Biomedical Links



Diseases and Disorders
Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities
 
Alert! Patients looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider.
 
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Contents:
Achondroplasia - Acrocephalosyndactylia - Adenomatous Polyposis Coli - Adrenal Hyperplasia, Congenital - Adrenoleukodystrophy - Afibrinogenemia - Aicardi Syndrome (not on MeSH) - Alagille Syndrome - Albinism - Albinism, Ocular - Alexander Disease - Alkaptonuria - alpha-Mannosidosis - Amino Acid Metabolism, Inborn Errors - Amniotic Band Syndrome - Androgen-Insensitivity Syndrome - Anemia, Hemolytic, Congenital Nonspherocytic - Anemia, Sickle Cell - Anencephaly - Angelman Syndrome - Aniridia - Anophthalmos - Antithrombin III Deficiency - Arachnoid Cysts - Arnold-Chiari Malformation - Arrhythmogenic Right Ventricular Dysplasia - Arteriovenous Malformations - Arthrogryposis - Ataxia Telangiectasia - Bannayan-Zonana Syndrome - Barth Syndrome (not on MeSH) - Basal Cell Nevus Syndrome - Beckwith-Wiedemann Syndrome - Bernard-Soulier Syndrome - Biliary Atresia - Biotinidase Deficiency - Bladder Exstrophy - Bloom Syndrome - Branchio-Oto-Renal Syndrome - Bronchopulmonary Dysplasia - Canavan Disease - Carbohydrate-Deficient Glycoprotein Syndrome - Caroli Disease - Cat Eye Syndrome (not on MeSH) - Cerebral Gigantism (not on MeSH) - Charcot-Marie-Tooth Disease - CHARGE Syndrome (not on MeSH) - Cherubism - Choledochal Cyst - Choroideremia - Chromosome 16 Abnormalities (not on MeSH) - Chromosome 17 Abnormalities (not on MeSH) - Chromosome 18 Abnormalities (not on MeSH) - Chromosome 20 Abnormalities (not on MeSH) - Chromosome 22 Abnormalities (not on MeSH) - Chromosome Disorders - Cleft Lip - Cleidocranial Dysplasia - Coloboma - Congenital Abnormalities - Congenital Hypothyroidism - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Corneal Dystrophies, Hereditary - Costello Syndrome (not on MeSH) - Craniofacial Dysostosis - Craniosynostoses - Cri-du-Chat Syndrome - Cryptorchidism - Currarino Syndrome (not on MeSH) - Cutis Laxa - Cystic Fibrosis - Cystinosis - Cystinuria - Dandy-Walker Syndrome - De Lange Syndrome - DiGeorge Syndrome - Distal Trisomy 10q (not on MeSH) - Down Syndrome - Duane Retraction Syndrome - Dwarfism - Dysautonomia, Familial - Ebstein Anomaly - Ectodermal Dysplasia - Ehlers-Danlos Syndrome - Eisenmenger Complex - Ellis-Van Creveld Syndrome - Encephalocele - Epidermolysis Bullosa - Erythroblastosis, Fetal - Esophageal Atresia - Eye Abnormalities - Fabry Disease - Factor V Deficiency - Factor VII Deficiency - Factor X Deficiency - Factor XI Deficiency - Factor XII Deficiency - Familial Mediterranean Fever - Fanconi Anemia - Fetal Alcohol Syndrome - Fetal Diseases - Fetal Growth Retardation - Fetofetal Transfusion - Fragile X Syndrome - Freeman-Sheldon Syndrome (not on MeSH) - Friedreich Ataxia - Fucosidosis - Funnel Chest - Galactosemias - Gastroschisis - Gaucher Disease - Genetic Diseases, Inborn - Gerstmann-Straussler-Scheinker Disease - Gilbert Disease - Glucosephosphate Dehydrogenase Deficiency - Glycogen Storage Disease - Goldenhar Syndrome - Gout - Granulomatous Disease, Chronic - Gyrate Atrophy - Hamartoma Syndrome, Multiple - Hartnup Disease - Heart Defects, Congenital - Heart Septal Defects - Hemochromatosis - Hemoglobinopathies - Hemophilia A - Hemophilia B - Hemorrhagic Disease of Newborn - Hepatolenticular Degeneration - Hereditary Motor and Sensory Neuropathies - Hereditary Sensory and Autonomic Neuropathies - Hermanski-Pudlak Syndrome - Hermaphroditism - Hernia, Umbilical - Hip Dislocation, Congenital - Hirschsprung Disease - Holoprosencephaly - Homocystinuria - Huntington Disease - Hydrocephalus - Hyperbilirubinemia, Hereditary - Hyperlipidemia, Familial Combined - Hyperostosis, Cortical, Congenital - Hypophosphatasia - Hypoplastic Left Heart Syndrome - Hypospadias - Ichthyosis - Incontinentia Pigmenti - Infant, Newborn, Diseases - Ivemark Syndrome (not on MeSH) - Jacobsen Syndrome - Jaundice, Chronic Idiopathic - Jaundice, Neonatal - Kallmann Syndrome - Kartagener Syndrome - Kernicterus - Klinefelter Syndrome - Klippel-Feil Syndrome - Lactose Intolerance - Larsen Syndrome (not on MeSH) - Laurence-Moon Syndrome - Leigh Disease - Lesch-Nyhan Syndrome - Leukodystrophy, Globoid Cell - Leukodystrophy, Metachromatic - Lissencephaly - Long QT Syndrome - Lysosomal Storage Diseases - Machado-Joseph Disease - Mandibulofacial Dysostosis - Maple Syrup Urine Disease - Marfan Syndrome - Meckel Diverticulum - Meconium Aspiration Syndrome - MELAS Syndrome - Menkes Kinky Hair Syndrome - Metabolism, Inborn Errors - Microcephaly - Microphthalmos - Monosomy 9p- (not on MeSH) - Mucolipidoses - Mucopolysaccharidoses - Multicystic Dysplastic Kidney - Muscular Dystrophies - Musculoskeletal Abnormalities - Nail-Patella Syndrome - Nephritis, Hereditary - Neural Tube Defects - Neurofibromatoses - Neuronal Ceroid-Lipofuscinoses - Niemann-Pick Diseases - Noonan Syndrome - Ochoa Syndrome (Urofacial Syndrome, Hydronephrosis with Peculiar Facial Expression; not on MeSH) - Oculocerebrorenal Syndrome - Olivopontocerebellar Atrophies - Optic Atrophies, Hereditary - Ornithine Carbamoyltransferase Deficiency Disease - Osteogenesis Imperfecta - Pallister-Killian Syndrome (not on MeSH) - Pantothenate Kinase-Associated Neurodegeneration - Paralyses, Familial Periodic - Pemphigus, Benign Familial - Peroxisomal Disorders - Peutz-Jeghers Syndrome - Phenylketonurias - Pierre Robin Syndrome - Plagiocephaly, Nonsynostotic - POEMS Syndrome - Poland Syndrome - Porphyria, Erythropoietic - Porphyrias - Port-Wine Stain - Prader-Willi Syndrome - Progeria - Prognathism - Protein C Deficiency - Proteus Syndrome - Prune Belly Syndrome - Pseudoxanthoma Elasticum - Pulmonary Atresia - Refsum Disease - Respiratory Distress Syndrome, Newborn - Retinitis Pigmentosa - Retinopathy of Prematurity - Rett Syndrome - Robinow Syndrome (not on MeSH) - Rubinstein-Taybi Syndrome - Sandhoff Disease - Schizencephaly - Scimitar Syndrome - Septo-Optic Dysplasia - Severe Combined Immunodeficiency - Situs Inversus - Smith-Lemli-Opitz Syndrome - Smith-Magenis Syndrome (not on MeSH) - Spherocytosis, Hereditary - Spina Bifida Occulta - Spinal Dysraphism - Spinal Muscular Atrophies of Childhood - Syphilis, Congenital - Tangier Disease - Tay-Sachs Disease - Telangiectasia, Hereditary Hemorrhagic - Tetralogy of Fallot - Thalassemia - Thanatophoric Dysplasia - Thrombasthenia - Tourette Syndrome - Trichothiodystrophy Syndromes - Tricuspid Atresia - Triple-X Females (not on MeSH) - Trisomy 13 (Patau Syndrome; not on MeSH) - Trisomy 9 (not on MeSH) - Tuberous Sclerosis - Turner Syndrome - Twins, Conjoined - Tyrosinemias - Usher Syndrome - Waardenburg's Syndrome - Werner Syndrome - Williams Syndrome - Wilms Tumor - Wiskott-Aldrich Syndrome - Wolff-Parkinson-White Syndrome - Wolf-Hirschhorn Syndrome - Wolfram Syndrome - Wolman Disease - von Willebrand Disease - Xeroderma Pigmentosum - Zellweger Syndrome -


  Congenital, Hereditary, and Neonatal Diseases and Abnormalities   
  The Office of Rare Diseases - NIH (US)
  The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations
  Information about some rare diseases [a Swedish perspective] - Swedish National Board of Health and Welfare (SE)
  M-Power database (rare diseases in children) - Madisons Foundation
  A Short History of Mapping [B Mertz] - Access Excellence
  Genetic Diseases [links] - Open Directory
  GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR)
  wikigenes [search for genes, chemicals, pathologies, ...]
  OrphaNet [rare diseases], and the OrphaNet Journal of Rare Diseases [open access]
  On Birth Defects and Developmental Disorders - CDC (US)
  The NIGMS Human Genetic Cell Respository - Coriell Institute Medical Research
  Clinical Growth Charts - CDC (US)
  Prenatal Diagnosis [images; EC Klatt]
  Let's Face It - Resources for People with Facial Difference [annotated links] - Lets Face It
  I.B.I.S., International Birth Defects Information Systems
  On Screening for some Genetic Disorders - Save Babies Through Screening Foundation, Inc
  ZYGOTE , about Developmental Biology [S Gilbert] - Swarthmore College, PA (US)
  Development of the Human Heart [C. Wellman] - Loyola University (US)
  Why Folic Acid is so Important - CDC (US)
  On Neural Tube Defects (NTDs) - DUKE Center for Human Genetics (US)
  About Neural Tube Defects - Surgical-Tutor (UK)

   Congenital Abnormalities   
   A list of Preventable Causes of Congenital Abnormalities [S Page], 1999 - Medicine Australia/Women's Health (AU)
   Search Jablonski's MCA/MR Syndromes Database , NOTE: no longer maintained, but archived and accessible - NLM (US)
   Cephalic Disorders - NINDS/NIH (US)
   VACTERL association - The Fetus
   Abnormalities of the Hands and Feet in the Fetus: Sonographic Findings [Bromley and Benacerraf]
   Hypoplastic Thumb - Wheeless Online
   Information about Thalidomide - (CA)

     Alagille Syndrome   
    See another page

     Angelman Syndrome   
     About the human Chromosome 15 - Wikipedia
     Angelman Syndrome Information - UK Support Group via F van Hof (NL)
     Angelman Syndrome Foundation, USA
     Angelman Syndrome - Socialstyrelsen (SE)
     The Angelman, Rett, and Prader-Willi Syndrome Consortium
     The Australian Angelman Syndrome Association
     Angelman Syndrome - GeneReviews (US)
     Case of the Month, Dec 97 - U of Wisconsin/Waisman C (US)

     Basal Cell Nevus Syndrome   
     A case of Oral Cysts and Numerous Skin Lesions (Naevoid Basal Cell Carcinoma) - UPMC (US)
     Basal Cell Nevus Syndrome - OMIM (US)

     Beckwith-Wiedemann Syndrome   
     About Beckwith-Wiedemann Syndrome
     Beckwith-Wiedemann Syndrome [RJ Ferry] - eMedicine
     The Beckwith-Wiedemann Syndrome Support Group

    Usher Syndrome
     Usher Syndrome - NIDCD/NIH /US)
     About Usher Syndrome - Boys Town National Research Hospital, NE (US)
     Usher Syndrome & Other Related Diseases - The Foundation Fighting Blindness (US)
     About Usher Syndrome - Wikipedia

     Bloom Syndrome   
     Bloom Syndrome (Congenital Telangiectatic Erythema) [A Bajoghli] - eMedicine
     On Bloom Syndrome - GeneCards, Weizmann Univ. (IL)

    CHARGE Syndrome (not on MeSH)
     The CHARGE Syndrome Canada and a List of Diagnostic Criteria
     About CHARGE syndrome, and some personal stories - SpecialChild
     CHARGE Syndrome database record (info may be outdated) - MCA/MR, NLM (US)
     CHARGE Syndrome [K Moss, '96] - TSBVI
     CHARGE Syndrome Foundation, Inc. - (US)

     Branchio-Oto-Renal Syndrome   
     Pendred/BOR Home Page - Univ of Iowa (US)
     Branchiootorenal syndrome - GeneReviews
     A family with Branchio-oto-renal syndrome: clinical and genetic correlations [Pierides et al.] - Nephrol Dialys Transplant, 2002

     Cri-du-Chat Syndrome   
     Cri-Du-Chat Syndrome [H Chen] - eMedicine
     The UK Cri du Chat Support Group including a Handbook for Parents and professionals
     About the Cri du chat syndrome (5p deletion syndrome) - Socialstyrelsen (SE)
     About Cri-du-Chat Syndrome [OMIM; McKusik] - NCBI (US)

     De Lange Syndrome   
     Cornelia de Lange Syndrome Foundation, Inc. - (US)
     Cornelia de Lange (Bachmann-de Lange) Syndrome [Tekin and Bodurtha] - eMedicine
     Cornelia de Lange syndrome - Genetics Home Reference, NLM (US)
     Cornelia de Lange Syndrome - GeneReviews

     Deaf-Blind Disorders   

      Wolfram Syndrome   
     See another page


     Down Syndrome   
     Down Syndrome: Health Issues [L Leshin] including a collection of Recommended Down Syndrome Sites on the Internet [L Leshin]
     Trisomy 21 (Down Syndrome) - UNSW (AU)
     Down Syndrome Online - Down Syndrome Education International (UK)
     The US Nat'l Down Syndrome Society - New York
     About the World Down Syndrome Day, March 21st
     The Down Syndrome Family Empowerment - (US)
     Growth Charts for Children With Down Syndrome [G Richards]
     About Nuchal Translucency - Diagnostic Ultrasound (UK)
     Nuchal Translucency and Chromosome Abnormalities - Mt Sinai Hosp, Toronto (CA)
     On Screening for Downs syndrome - BabyCenter
     Facial features [image; EC Klatt]
     Non-invasive prenatal diagnosis hits the national news - phg foundation, Jun 2008
     About Trisomy 21 [OMIM; McKusik] - NCBI (US)
     Karyotype of Trisomy 21 [Wendin et al] - Cytogenetics Gallery, U of Washington (US)

    Chromosome 22 Abnormalities (not on MeSH)
     The Chromosome 22 Central [all Chr 22 related disorders] - (CA)
     see also under DiGeorge Syndrome [links] - KIB (SE)
     About Cat Eye Syndrome - OMIM
     About the 22q11 deletion syndrome (DiGeorge syndrome, Velo-cardio-facial syndrome, CATCH 22) - Socialstyrelsen (SE)
     22q13.3 syndrome (Phelan-McDermid syndrome) [MC Phelan] - Orphanet J Rare Dis, May 2008
     Velo-Cardio-Facial Syndrome Educational Foundation , Inc.
     Velocardiofacial Syndrome [Gothelf and Lombroso] - J Am Acad Child and Adolescent Psychiatry
     Case of the Month, July 1997 - U of Wisconsin/Waisman C (US)
     Research on Velo-Cardio-Facial Syndrome and related 22q11 syndromes - CAP/Stanford U. (US)
     About the Emanuel Syndrome (Supernumurary DER(22) Syndrome) - OMIM

     Ectodermal Dysplasia   
     About Ectodermal Dysplasia types - US Nat'l Foundation for Ectodermal Dysplasias
     The Ectodermal Dysplasia Society
     Hypohidrotic Ectodermal Dysplasia - GHR/NLM (US)
     About Ectodermal Dysplasia [Shah and Duran-McKinster] - eMedicine
     Hypohidrotic Ectodermal Dysplasia - Socialstyrelsen (SE)

      Ellis-Van Creveld Syndrome   
     See another page


     Holoprosencephaly   
     The Carter Centers for Brain Research
     Holoprosencephaly photos [Jorde et al.] - Medical Genetics, 2nd ed.

    Trisomy 9 (not on MeSH)
     Conditions related to genes on Chromosome 9 - NLM/NIH
     Trisomy 9 Mosaicism - (CA)
     Karen's and Mandy's Trisomy On-Line Webpage

    Trisomy 13 (Patau Syndrome; not on MeSH)
     Support Organization for Trisomy 18, 13 and Related Disorders - S.O.F.T.
     Information about Trisomy 13 - Ask Dr Greene
     Patau Syndrome [Best et al.] - eMedicine
     Patau Syndrome [Jorde et al.] - Medical Genetics/Univ of Utah
     Karen's and Mandy's Trisomy On-Line Webpage
     Trisomy 13 karyotype [in Portuguese] - U. of Saõ Paulo (BR)

    Chromosome 16 Abnormalities (not on MeSH)
     About Chromosome 16 - GHR/NLM (US)
     Trisomy 16 Mosaicism - Chromosomal Mosaicism

    Chromosome 17 Abnormalities (not on MeSH)
     Conditions related to genes on Chromsome 17 - GHR/NLM (US)
     On the Potocki-Lupski Syndrome - Baylor College of Medicine

    Chromosome 18 Abnormalities (not on MeSH)
     The most frequent abnormalities of chromosome 18 , and about Growth Hormone Deficiency and Chromosome 18q- Abnormality from the Chromosome 18 Registry & Research Society - San Antonio, TX (US)
     Support Organization for Trisomy 18, 13 and Related Disorders - S.O.F.T.
     Karen's and Mandy's Trisomy On-Line Webpage
     Abigail's story: A trisomy 18 journey
     Trisomy 18 Syndrome (Edward Syndrome) - Adam, via MedlinePlus
     Trisomy 18 (Edwards Syndrome) - UNSW Embryology (AU)
     A case of Clenched fist in Trisomy 18 , and some more images - The Fetus
     Trisomy 18 - UBC (CA)

    Chromosome 20 Abnormalities (not on MeSH)
     Conditions related to genes on chromosome 20 - GHR/NLM (US)

     Incontinentia Pigmenti   
     Incontinentia Pigmenti (Bloch-Sulzberger/Siemens Syndrome) [CH Chang] - eMedicine
     The Incontinentia Pigmenti International Foundation
     About the NEMO gene - The Andy Fund (MX)
     Incontinentia Pigmenti information - NINDS/NIH

     Laurence-Moon Syndrome   
     Laurence-Moon-Bardet-Biedl Network Home Page [M Morris]
     The Laurence-Moon-Bardet-Biedl Society - (UK)
     On the history of the Laurence-Moon-Bardet-Biedl Syndrome - (NL)
     About the Bardet-Biedl Syndrome - Athena Diagnostics Lab.

    Smith-Magenis Syndrome (not on MeSH)
     Smith-Magenis Syndrome - PRISMS
     Smith-Magenis Syndrome [del(17p11.2)] information - (US)
     A Case of Smith-Magenis Syndrome - Special Child
     Smith-Magenis Syndrome - OMIM (US)

     Marfan Syndrome   
    See another page

     Nail-Patella Syndrome   
     Nail-Patella Syndrome and Glaucoma - Kellogg Eye Center
     Nail-Patella Syndrome Worldwide

     Oculocerebrorenal Syndrome   
     The Int'l Lowe Syndrome Association, Inc.

    Aicardi Syndrome (not on MeSH)
     Aicardi Syndrome Foundation - (US)
     Aicardi Syndrome information - NINDS/NIH (US)
     Aicardi Syndrome [DiFazio and Davis] - eMedicine

     POEMS Syndrome   
    See another page

     Prader-Willi Syndrome   
     About the human Chromosome 15 - Wikipedia
     Prader-Willi Syndrome Association - (US)
     The Prader-Willi Alliance of New York
     Vocational Guidance and Prader-Willi Syndrome - J of Rehabilitation, Jan-Mar 2003
     Prader-Willi Syndrome: Genes, Brain, and Behavior [State and Dykens] - J Am Acad Child and Adolescent Psychiatry
     Prader-Willi sufferers struggle with uncontrollable appetite - ABC News, Apr 2005
     The Angelman, Rett, and Prader-Willi Syndrome Consortium
     Prader-Willi Syndrome - GeneReviews

     Proteus Syndrome   
     Proteus Syndrome [OMIM; McKusik] - NCBI (US)
     Proteus Syndrome Foundation - (US)
     The Joseph Carey Merrick Memorial Site
     About The Elephant Man [M Kugler]

    Bannayan-Zonana Syndrome
     About Bannayan-Zonana Syndrome - The Doctor's Doctor
     Macrocephaly, Multiple Lipomas and Hemangiomata [OMIM; McKusik] - NCBI (US)

     Prune Belly Syndrome   
     Prune Belly Syndrome Network
     About Prune Belly Syndrome [I Franco] - eMedicine
     Prune Belly Syndrome - The Fetus

     Rubinstein-Taybi Syndrome   
     About Rubinstein-Taybi Syndrome [Baxter & Wardlow] - (US)
     Rubinstein Taybi Syndrome Support Group - (UK)
     Rubinstein Syndrome [OMIM; McKusik] - NCBI (US)

     Smith-Lemli-Opitz Syndrome   
     Smith-Lemli-Opitz Syndrome [Steiner and Martin] - eMedicine
     Smith-Lemli-Opitz syndrome - Socialstyrelsen (SE)
     Smith-Lemli-Opitz Syndrome - GeneReviews
     Smith-Lemli-Opitz syndrome - Kennedy Krieger Inst., Johns Hopkins (US)
     Precise cause of Smith-Lemli-Opitz syndrome found [T Sheldon] - BMJ Sep 1998
     A 3 week old girl ... [Wang et al] - U of Pittsburgh

     Trichothiodystrophy Syndromes   
     About Trichothiodystrophy - Keratin.Com
     On Trichothiodystrophy - humpath.com
     Amish brittle hair syndrome (TTD) and Tay syndrome (TTD 2) (info may be outdated) [S Jablonski] - MCA/MR Syndromes

     Waardenburg's Syndrome   
     About Waardenburg Syndrome - Boystown Hospital
     A 29 year old man with visual symptoms and headaches (Waardenburg Syndrome) - DJO, Harvard (US)
     The PAX3 Gene (Chromosome 22) - NCBI (US)
     Waardenburg syndrome - Wikipedia
     Waardenburg Syndrome Type 1 [OMIM; McKusik] - NCBI (US)

     Wolf-Hirschhorn Syndrome   
     Wolf-Hirschhorn Syndrome [H Chen] - eMedicine
     The UK 4p- Syndrome Support Group
     About Wolf-Hirschhorn (4p-) Syndrome [L Bentley]

     Wolfram Syndrome   
    See another page

     Zellweger Syndrome   
    See another page


    Cardiovascular Abnormalities   

     Heart Defects, Congenital   
    See another page

      Alagille Syndrome   
     See another page

      Arrhythmogenic Right Ventricular Dysplasia   
     See another page

      Dextrocardia   

       Kartagener Syndrome   
      See another page


      Ebstein Anomaly   
     See another page

      Eisenmenger Complex   
     See another page

      Heart Septal Defects   
     See another page

      Hypoplastic Left Heart Syndrome   
     See another page

      Long QT Syndrome   
     See another page

      Marfan Syndrome   
     See another page

      Tetralogy of Fallot   
     See another page

      Tricuspid Atresia   
     See another page

      Wolff-Parkinson-White Syndrome   
     See another page


     Vascular Malformations   

      Arteriovenous Malformations   
     See another page

      Pulmonary Atresia   
     See another page

      Scimitar Syndrome   
     See another page

      Telangiectasia, Hereditary Hemorrhagic   
     See another page


    Chromosome Disorders   
    An introduction to Chromosomes - CDO
    How Chromosomes are Labeled - Univ of South Dakota (US)
    Chromosome Disorders registered with Chromosome Deletion Outreach, Inc.
    Chromosome Disorders [M Kugler; links] - About.Com
    Unique: Support Group for Rare Chromosome Disorders , the Little Yellow Book [about chromosomes and rare chromosome disorders] and Collection of Chromosome Disorder Leaflets [membership required]
    Types of abnormalities detectable by cytogenetics - Univ of Wisconsin (US)
    Human Chromosomal Abnormalities including a Glossary of Terms [D O'Neil] - Palomar College
    XYY -- Stereotype of the Karyotype - PathGuy
    The XXYY Project
    About the 49, XXXXY Syndrome
    Tetrasomy and Pentasomy X Syndromes
    The Chromosome Help Station

     Monosomy 9p- (not on MeSH)
      9P- syndrome (Alfi's syndrome) Network [R&T Rosenheim]
      Monosomy 9P syndrome - OMIM

     Distal Trisomy 10q (not on MeSH)
      Distal Trisomy 10q Families [D & L Anderson] - Oregon (US)

     Jacobsen Syndrome
      European chromosome 11q network
      About Jacobsen Syndrome [OMIM; McKusik] - NCBI (US)

     Pallister-Killian Syndrome (not on MeSH)
      About Pallister-Killian Syndrome (Tetrasomy 12p)
      A case of Pallister-Killian Syndrome - The Fetus Net
      Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing [Polityko et al.] - J Histochem Cytochem, 2005

     Angelman Syndrome   
    See another location

     Beckwith-Wiedemann Syndrome   
    See another location

     Branchio-Oto-Renal Syndrome   
    See another location

     Cri-du-Chat Syndrome   
    See another location

     De Lange Syndrome   
    See another location

     Down Syndrome   
    See another location

     Holoprosencephaly   
    See another location

     Prader-Willi Syndrome   
    See another location

     Rubinstein-Taybi Syndrome   
    See another location

     Sex Chromosome Disorders   

      Fragile X Syndrome   
      About the Fragile X Syndrome (Martin Bell syndrome) - FRAXA Research Foundation (US)
      Fragile X Research Foundation of Canada
      About Fragile X Syndrome - Cold Spring Harbor Lab. (US)
      The Nat'l Fragile X Foundation - (US)
      Fragile X Association of S California - (US)
      About Fragile X-Associated Tremor/Ataxia Syndrome - Public Health Genetics Foundation (UK)
      Brief note about the FMR1 Gene and Fragile X Syndrome - NCBI, and about FMR1-Related disorders - GeneReviews
      Testing for Fragile X - GeneCare, Inc. (US)

     Triple-X Females (not on MeSH)
      Triple-X Females - The Turner Center, Risskov (DK)
      Triplo-X Syndrome [Sherman, Koss & Gordon?]

     Costello Syndrome (not on MeSH)
      Costello Kids - (UK)
      About the Costello Syndrome [OMIM; McKusik] - NCBI (US)

     Cat Eye Syndrome (not on MeSH)
      About Cat Eye Syndrome - Wikipedia, and an image (iris coloboma) - MedlinePlus/A.D.A.M.
      Chromosome 22 Central (Chr 22 related disorders)
      A video clip about Cat Eye Syndrome [K Moore] - YouTube
      Cat Eye Syndrome - OMIM

     Larsen Syndrome (not on MeSH)
      About Larsen Syndrome, Recessive [OMIM; McKusik] - NCBI (US)
      The Larsen Syndrome Research Project at Cedars-Sinai (US)
      About Larsen Syndrome, Dominant [OMIM; McKusik] - NCBI (US)

      Klinefelter Syndrome   
      Understanding Klinefelter Syndrome [R Bock] - NICHD/NIH, 1997 (US)
      Klinefelter Syndrome and Associates Home Page - Roseville, CA (US)
      American Association for Klinefelter Syndrome Information and Support
      Klinefelter Syndrome Support Group [S Schwarz?] - (US)
      Klinefelter Syndrome [Wattendorf and Muenke] - AAFP, 2005
      David Brager's story
      Klinefelter's Syndrome: XXY males [SL Zierler-Brown] - US Pharmacist, 2006
      The Klinefelter Syndrom of Ohio - (US)
      Brief note on KS and Chromosomal Aneuploid - U of Arizona (US)

      Turner Syndrome   
      The Turner Syndrome Society of the United States
      Turner syndrome: Diagnosis and Management [T Morgan] - AAFP, Aug 2007
      Turner's syndrome: What to loook for - Society for Endocrinology (UK)
      Efficacy of Growth Hormone Therapy in Turner's Syndrome [Gault and Donaldson] - via British Soc for Paediatric Endocrinology
      About Turner Ullrich Syndrome [links] - I.B.I.S.
      Turner's Syndrome Support Society - (UK)
      The Turner Syndrome division at the MAGIC Foundation
      XO syndrome (Morgagni-Turner-Albright Syndrome) database record (info may be outdated) - MCA/MR, NLM (US)
      Health Supervision for Children With Turner Syndrome [policy statement 2003] and a Turner Syndrome growth curve - AAFP


     Williams Syndrome   
    See another page

     Wolf-Hirschhorn Syndrome   
    See another location


    DiGeorge Syndrome   
   See another page

    Digestive System Abnormalities   

     Biliary Atresia   
    See another page

     Choledochal Cyst   
    See another page

      Caroli Disease   
     See another page


     Esophageal Atresia   
    See another page

     Hirschsprung Disease   
    See another page

     Meckel Diverticulum   
    See another page


    Eye Abnormalities   
   See another page

     Aniridia   
    See another page

     Anophthalmos   
    See another page

     Coloboma   
    See another page

     Microphthalmos   
    See another page


    Monsters   

     Anencephaly   
     About Anencephaly - Wikipedia
     The Anencephaly Support Foundation - (US)
     The Anencephaly Support List
     On the Use of anencephalic newborns as organ donors ( Ethical Considerations ) - Canadian Paediatric Soc. 2005, 2008
     Anencephaly [picture; EC Klatt]

     Twins, Conjoined   
     About Conjoined twins , and Parasitic twin - Wikipedia
     Siamese Twins, Craniothoracopagus , and Siamese Twins, Thoracopagus [pictures; EC Klatt]
     A Social History of Conjoined Twins [exhibition] - Mütter Museum, Philadelphia
     Eng and Chang Bunker, The Siamese Twins
     Health Effects of the Separation of Conjoined Twins - Georgia State Univ. (US)
     On the separation of Jodie and Mary - Pro+Chioce Forum

    Freeman-Sheldon Syndrome (not on MeSH)
     The Freeman Sheldon Parent Support Group
     Clinical features of the Freeman Sheldon syndrome - Geneva Foundation Med Educ Res (CH)
     Whistling Face Syndrome - OMIM


    Musculoskeletal Abnormalities   
   See another page

     Arthrogryposis   
    See another page

     Craniofacial Abnormalities   

      Cleidocranial Dysplasia   
     See another page

      Craniofacial Dysostosis   
     See another page

       Mandibulofacial Dysostosis   
      See another page

        Goldenhar Syndrome   
       See another page


      Craniosynostoses   
     See another page

       Acrocephalosyndactylia   
      See another page


      Holoprosencephaly   
     See another location

      Maxillofacial Abnormalities   

       Cherubism   
      See another page

       Jaw Abnormalities   

        Pierre Robin Syndrome   
       See another page

        Prognathism   
       See another page


      Microcephaly   
      Microcephaly - NINDS/NIH (US)
      On Microcephaly vera - Socialstyrelsen (SE)
      Microcephaly - Wikipedia
      Microcephaly Support Group - (UK)
      Microcephaly - OMIM (US)
      The Microcephaly Discussion List

      Noonan Syndrome   
      Noonan Syndrome Information & Resources - NS Support Group, Inc. (US)
      Noonan Syndrome - I.B.I.S
      Noonan Syndrome 1 - OMIM (US)
      About the Noonan Syndrome - Athena Diagnostics Lab.

     Ochoa Syndrome (Urofacial Syndrome, Hydronephrosis with Peculiar Facial Expression; not on MeSH)
      A case report of a 5-year-old girl with Ochoa Syndrome [FN Al-Qahtani] - Saudi J Kidney Dis Transplant, 2003
      Urofacial (ochoa) syndrome [Ochoa and Gorlin; abstract] - Am J Med Genet 1987

      Plagiocephaly, Nonsynostotic   
     See another page

      Rubinstein-Taybi Syndrome   
     See another location


     Funnel Chest   
    See another page

     Gastroschisis   
     About Gastroschisis - Center for Fetal Diagnosis and Treatment, Philadelphia (US)
     Omphalocele and Gastroschisis [JG Glasser] - eMedicine
     Gastroschisis [pathol., image] - WebPath
     Outcome of antenatally diagnosed abdominal wall defects [Fratelli et al.; abstract] - PubMed/Ultrasound Obstet Gynecol, 2007

     Hip Dislocation, Congenital   
    See another page

     Klippel-Feil Syndrome   
    See another page

     Limb Deformities, Congenital   

      Proteus Syndrome   
     See another location

      Syndactyly   

       Acrocephalosyndactylia   
      See another page

       Poland Syndrome   
      See another page


      Thanatophoric Dysplasia   
     See another page


     Synostosis   

      Craniosynostoses   
     See another page

       Acrocephalosyndactylia   
      See another page


      Syndactyly   

       Acrocephalosyndactylia   
      See another page

       Poland Syndrome   
      See another page


     Central Nervous System Cysts   

      Arachnoid Cysts   
     See another page


     Dandy-Walker Syndrome   
    See another page

     Hereditary Motor and Sensory Neuropathies   
    See another page

      Charcot-Marie-Tooth Disease   
     See another page

      Refsum Disease   
     See another page


     Hereditary Sensory and Autonomic Neuropathies   
    See another page

      Dysautonomia, Familial   
     See another page


     Holoprosencephaly   
    See another location

     Malformations of Cortical Development   

      Lissencephaly   
      About Lissencephaly - Wikipedia
      The Lissencephaly Contact GRoup - (UK)
      About Lissencephaly, Familial , and Lissencephaly, X-Linked [OMIM; McKusik] - NCBI (US)

     Schizencephaly
      About Cephalic disorders - Neurology Channel/HealthCommunities, Inc.
      About Schizencephaly [Close and Naul] - eMedicine
      Schizencephaly [patient info sheet] - Christopher A Waslsh Lab.
      Bilateral Closed-lip Schizencephaly [Baujan & Berlin] - Rainbow Babies & Children Hosp. (US)

     Robinow Syndrome (not on MeSH)
      About Robinow Syndrome - Wikipedia
      Robinow Syndrome Fact Sheet (info may be outdated) - Jablonski's Syndromes Database/NLM (US)
      Robinow Syndrome (Fetal Face) Foundation - (US)
      Le Syndrome de Robinow [in French] - (FR)

      Microcephaly   
     See another location

      Tuberous Sclerosis   
     See another page


     Neural Tube Defects   
    See another page

      Anencephaly   
     See another location

      Arnold-Chiari Malformation   
     See another page

      Encephalocele   
     See another page

      Spinal Dysraphism   
     See another page

       Spina Bifida Occulta   
      See another page


     Septo-Optic Dysplasia   
    See another page


    Respiratory System Abnormalities   

     Kartagener Syndrome   
    See another page

     Scimitar Syndrome   
    See another page


    Situs Inversus   
    The sources of symmetry [H Gee] - nature
    A case of Situs inversus - U of Alabama/Radiology (US)
    Situs Inversus Viscerum (large abdominal organs) [OMIM; McKusik] - NCBI (US)
    Situs inversus (iv) Mutation [in mice; Sundberg & Collins] - Jackson Laboratory (US)

   Ivemark Syndrome (not on MeSH)
    Asplenia with Cardiovascular Anomalies [OMIM; McKusik] - NCBI (US)
    Ivemark syndrome - ivemark.com
    About Asplenia [M Kumar] - eMedicine

      Kartagener Syndrome   
     See another page


    Skin Abnormalities   

     Ectodermal Dysplasia   
    See another location

      Ellis-Van Creveld Syndrome   
     See another page


     Ehlers-Danlos Syndrome   
    See another page

     Epidermolysis Bullosa   
    See another page

     Ichthyosis   
    See another page

     Incontinentia Pigmenti   
    See another location

     Port-Wine Stain   
    See another page

     Pseudoxanthoma Elasticum   
    See another page

     Trichothiodystrophy Syndromes   
    See another location

     Xeroderma Pigmentosum   
    See another page


    Stomatognathic System Abnormalities   

     Maxillofacial Abnormalities   

      Jaw Abnormalities   

       Pierre Robin Syndrome   
      See another page

       Prognathism   
      See another page


     Mouth Abnormalities   

      Cleft Lip   
     See another page


    Urogenital Abnormalities   

     Bladder Exstrophy   
    See another page

     Cryptorchidism   
    See another page

     Hypospadias   
    See another page

     Multicystic Dysplastic Kidney   
    See another page

     Nephritis, Hereditary   
    See another page

     Sex Differentiation Disorders   

      Gonadal Dysgenesis   

       Turner Syndrome   
      See another location


      Hermaphroditism   
     See another page

        Androgen-Insensitivity Syndrome   
       See another page


      Kallmann Syndrome   
     See another page

      Klinefelter Syndrome   
     See another location


   Fetal Diseases   
   A note about Fetal monitoring , and about Fetal blood sampling - Children's Hosp. Wisconsin (US)
   Fetal surgery issues - Fetal Care Center of Cincinnati (US)
   The fetal origins of adult disease [editorial] - BMJ, Feb 2001

    Erythroblastosis, Fetal   
   See another page

    Fetal Alcohol Syndrome   
    The US Nat'l Organization on Fetal Alcohol Syndrome
    On Fetal Alcohol Syndrome - NIAAA/NIH (US)
    The Fetal Alcohol and Drug Unit at Univ of Washington (US)
    Fetal Alcohol Syndrome Branch at CDC (US)
    Fetal Alcohol Syndrome - The TRIUMF Project (CA)

    Fetal Growth Retardation   
   See another page

    Meconium Aspiration Syndrome   
   See another page


   Genetic Diseases, Inborn   
   The Gene Gateway Workbook - US Dept of Energy
   Medical Genetics, 2nd ed. [Jorde et al.], 2000
   What Are Genetic Disorders? - Univ of Utah, SOM/Genetics (US)
   Information for Genetic Professionals [links ; D Collins] - KUMC (US)
   Genetic Fact Sheets [and links] from Emory Univ. (US)
   On Mitochondrial Inheritance - Genetic Drift, 1994
   Mitochondrial Inheritance - Wikipedia
   The HuGE Navigator (genome epidemiology) - CDC US)
   How are disease genes identified? - Access Excellence, and about linking gene : disease, positional cloning - Beynod Discovery
   A list of Genetic disorders - Wikipedia
   Genetics Home Reference , about Genes and Disease and the Online Mendelian Inheritance in Man [OMIM; VA McKusik et al.] - NCBI/NLM (US)
   Human Gene Mutation Database [Cooper et al.] - Cardiff (UK)
   Kim Davis - Can A Genetic Disease Be Cured? - A Mother's Dilemma [case study; MS Hudecki]
   The GeneCards Encyclopedia - Weizmann Institute (IL)
   GeneReviews - NCBI/NLM (US)
   Info on some Genetic Diseases , from the perspective of Preimplantation genetic diagnosis - Tyler Medical Clinic (US)
   Developmental and Genetic Diseases , with images - Geneva Foundation for Medicla Education and Research (CH)
   Search for US Support Groups for various Genetic Conditions - Genetic Alliance
   Genetics Education Center - University of Kansas Medical Center (US)
   The (Genetic) Disorder Zone Archive at Special Child
   Blazing A Genetic Trail - Howard Hughes Med Inst (US)
   On Genetic Disorders [E. Friedlander] - (US)
   Genetic Disorders: The Link to Diet [S Simmons] - CTDS
   Understanding Genetic Testing - Access Excellence
   Genetic Testing Information from GeneCare, Inc. (US)
   EDDNAL: European Directory of DNA Diagnostic Laboratories

    Adrenal Hyperplasia, Congenital   
   See another page

    Alagille Syndrome   
   See another page

    Anemia, Hemolytic, Congenital   

     Anemia, Hemolytic, Congenital Nonspherocytic   
    See another page

     Anemia, Sickle Cell   
    See another page

     Glucosephosphate Dehydrogenase Deficiency   
    See another page

     Spherocytosis, Hereditary   
    See another page

     Thalassemia   
    See another page


    Anemia, Hypoplastic, Congenital   

     Fanconi Anemia   
    See another page


    Ataxia Telangiectasia   
    About Ataxia Telangiectasia - Immune Deficiency Foundation
    Facts about Ataxia Telangiectasia - US Nat'l Cancer Institute
    About Ataxia Telangiectasia - NINDS/NIH (US)
    The Ataxia-Telangiectasia Society - (UK)
    A-T Project Online [for children]
    Ataxia Telangiectasia [Jozwiak and Janniger] - eMedicine
    Genetic aspects of Ataxia telangiectasia - OMIM
    About the A-T gene - NCBI/NLM

    Blood Coagulation Disorders, Inherited   

     Afibrinogenemia   
    See another page

     Antithrombin III Deficiency   
    See another page

     Bernard-Soulier Syndrome   
    See another page

     Factor V Deficiency   
    See another page

     Factor VII Deficiency   
    See another page

     Factor X Deficiency   
    See another page

     Factor XI Deficiency   
    See another page

     Factor XII Deficiency   
    See another page

     Hemophilia A   
    See another page

     Hemophilia B   
    See another page

     Hermanski-Pudlak Syndrome   
    See another page

     Protein C Deficiency   
    See another page

     Thrombasthenia   
    See another page

     von Willebrand Disease   
    See another page

     Wiskott-Aldrich Syndrome   
    See another page


    Cherubism   
   See another page

    Chromosome Disorders   
   See another location

     Angelman Syndrome   
    See another location

     Beckwith-Wiedemann Syndrome   
    See another location

     Branchio-Oto-Renal Syndrome   
    See another location

     Cri-du-Chat Syndrome   
    See another location

     De Lange Syndrome   
    See another location

     Down Syndrome   
    See another location

     Holoprosencephaly   
    See another location

     Prader-Willi Syndrome   
    See another location

     Rubinstein-Taybi Syndrome   
    See another location

     Sex Chromosome Disorders   

      Fragile X Syndrome   
     See another location

      Klinefelter Syndrome   
     See another location

      Turner Syndrome   
     See another location


     Williams Syndrome   
    See another page

     Wolf-Hirschhorn Syndrome   
    See another location


    Cystic Fibrosis   
    The US Cystic Fibrosis Foundation , and Cystic Fibrosis Worldwide
    Cystic Fibrosis - Wikipedia
    About Cystic Fibrosis , an animated presentation - Dolan DNA Learning Center
    Cystic Fibrosis in the Adult (scroll down --> page 10) [GA do Pico] - PCCU/CHEST (US)
    A collection of articles on Cystic Fibrosis at Cystic Fibrosis Medicine, 2002
    A Cystic Fibrosis Directory [links]
    Handbook compiled by the Cystic-L service
    Cystic Fibrosis Carrier Testing , 2004 - Emory Univ./Human Genetics (US)
    Sweat Chloride Testing - U of Wisconsin/Pediatrics (US)
    Testing for Cystic Fibrosis , 2004 - GeneCare, Inc. (US)
    Cystic Fibrosis Mutation Database - CF Genetic Analysis Consort. (CA)
    About CF and Ibuprofen - Case Western Reserve Univ., 1997
    See also under Burkholderia Infections [links]

    Dwarfism   
   See another page

     Achondroplasia   
    See another page

     Congenital Hypothyroidism   
    See another page


    Eye Diseases, Hereditary   

     Albinism   
    See another page

      Albinism, Ocular   
     See another page

      Albinism, Oculocutaneous   

       Hermanski-Pudlak Syndrome   
      See another page


     Aniridia   
    See another page

     Choroideremia   
    See another page

     Corneal Dystrophies, Hereditary   
    See another page

     Duane Retraction Syndrome   
    See another page

     Gyrate Atrophy   
    See another page

     Optic Atrophies, Hereditary   
    See another page

      Wolfram Syndrome   
     See another page


     Retinitis Pigmentosa   
    See another page


    Familial Mediterranean Fever   
   See another page

    Genetic Diseases, X-Linked   

     Androgen-Insensitivity Syndrome   
    See another page

     Choroideremia   
    See another page

     Fabry Disease   
    See another page

     Granulomatous Disease, Chronic   
    See another page

     Hemophilia B   
    See another page

     Mental Retardation, X-Linked   

      Adrenoleukodystrophy   
     See another page

      Fragile X Syndrome   
     See another location

      Lesch-Nyhan Syndrome   
     See another page

      Menkes Kinky Hair Syndrome   
     See another page

      Rett Syndrome   
      The International Rett Syndrome Association
      Association Francaise du Syndrome de RETT
      Rett Syndrome Association UK
      About Rett Syndrome - Socialstyrelsen (SE)
      Rett Syndrome Traced to Defective Gene "Silencer" - HHMI, Sep 1999 (US)
      Rett Syndrome - WeMove
      Your daughter has been diagnosed with Rett syndrome [KI Greenblatt]
      The Angelman, Rett, and Prader-Willi Syndrome Consortium
      The Indiana Rett Syndrome Group - (US)


     Oculocerebrorenal Syndrome   
    See another location

     Wiskott-Aldrich Syndrome   
    See another page


    Hemoglobinopathies   
   See another page

     Anemia, Sickle Cell   
    See another page

     Thalassemia   
    See another page


    Heredodegenerative Disorders, Nervous System   

     Alexander Disease   
    See another page

     Canavan Disease   
    See another page

     Gerstmann-Straussler-Scheinker Disease   
    See another page

     Hepatolenticular Degeneration   
    See another page

     Pantothenate Kinase-Associated Neurodegeneration   
    See another page

     Hereditary Motor and Sensory Neuropathies   
    See another page

      Charcot-Marie-Tooth Disease   
     See another page

      Refsum Disease   
     See another page


     Hereditary Sensory and Autonomic Neuropathies   
    See another page

      Dysautonomia, Familial   
     See another page


     Huntington Disease   
    See another page

     Lesch-Nyhan Syndrome   
    See another page

     Menkes Kinky Hair Syndrome   
    See another page

     Mental Retardation, X-Linked   

      Adrenoleukodystrophy   
     See another page

      Fragile X Syndrome   
     See another location

      Lesch-Nyhan Syndrome   
     See another page

      Menkes Kinky Hair Syndrome   
     See another page

      Rett Syndrome   
     See another location


     Neurofibromatoses   
     About Neurofibromatosis - and more specifically, about NF 1 (von Recklinghausen NF, Peripheral NF) , NF 2 (Bilateral Acoustic NF) , and Schwannomatosis - Children's Tumor Foundation
     Neurofibromatosis Type 1, NF1 (von Recklinghausen Disease) - OMIM
     NF2 Crew
     The Neurofibromatosis Clinic at MGH/Harvard
     Neurofibromatosis, Inc. - Chicago (US)
     Neurofibromatosis (NF1, NF2) - DNA Learning Center
     The Neurofibromatosis Association in the UK
     Association Neurofibromatoses et Recklinghausen [in French] - Blagnac (FR)
     NF2 Gene (Chromosome 22) - NCBI (US)

    Cerebral Gigantism (not on MeSH)
     Sotos Syndrome - Wikipedia
     Sotos Syndrome - GeneReviews
     Sotos Syndrome Home Page - SSSA (US)

     Neuronal Ceroid-Lipofuscinoses   
     About Batten Disease - Nat'l Inst. of Neurological Disorders & Stroke (US)
     The Batten Disease Support & Research Assoc.
     The Batten Disease Family Association - (UK)
     Batten Disease Unites Parents, Dog (Tibetan Terrier) Owners [K Levine] - NPR 2007
     The Batten Disease/Pediatric Storage Disorders Laboratory - Inst Psychiatry, Kings College, London (UK)
     Juvenile Batten's Disease - SeeAbility

    Barth Syndrome (not on MeSH)
     Barth Syndrome Foundation
     Barth Syndrome - X-linked Cardiomyopathy and Neutropenia - Clinical Mass Spectrometry Lab., Kennedy Krieger Institute
     About Barth Syndrome - Kennedy Krieger Institute (US)

    Currarino Syndrome (not on MeSH)
     Currarino Syndrome/Triad - OMIM
     About the Currarino Triad - OrphaNet
     Amy's Home Page (Currarino Triad)
     Currarino triad: diagnostic dilemma and a combined surgical approach [Samuel et al.; abstract only] - J Pediatr Surg, Dec 2000 ; via PubMed
     Images of Currarino Syndrome - Geneva Foundation Med Educ Research (CH)

     Optic Atrophies, Hereditary   
    See another page

      Wolfram Syndrome   
     See another page


     Rett Syndrome   
    See another location

     Spinal Muscular Atrophies of Childhood   
    See another page

     Spinocerebellar Degenerations   

      Friedreich Ataxia   
     See another page

      Olivopontocerebellar Atrophies   
     See another page

      Spinocerebellar Ataxias   

       Machado-Joseph Disease   
      See another page


     Tourette Syndrome   
    See another page

     Tuberous Sclerosis   
    See another page


    Kallmann Syndrome   
   See another page

    Kartagener Syndrome   
   See another page

    Marfan Syndrome   
   See another page

    Metabolism, Inborn Errors   
   See another page

     Amino Acid Metabolism, Inborn Errors   
    See another page

      Albinism   
     See another page

       Albinism, Ocular   
      See another page

       Albinism, Oculocutaneous   

        Hermanski-Pudlak Syndrome   
       See another page


      Alkaptonuria   
     See another page

      Homocystinuria   
     See another page

      Maple Syrup Urine Disease   
     See another page

      Multiple Carboxylase Deficiency   

       Biotinidase Deficiency   
      See another page


      Ornithine Carbamoyltransferase Deficiency Disease   
     See another page

      Phenylketonurias   
     See another page

      Tyrosinemias   
     See another page


     Amino Acid Transport Disorders, Inborn   

      Hartnup Disease   
     See another page

      Oculocerebrorenal Syndrome   
     See another location


     Brain Diseases, Metabolic, Inborn   

      Galactosemias   
     See another page

      Hartnup Disease   
     See another page

      Hepatolenticular Degeneration   
     See another page

      Homocystinuria   
     See another page

      Leigh Disease   
     See another page

      Lesch-Nyhan Syndrome   
     See another page

      Lysosomal Storage Diseases, Nervous System   

       Fucosidosis   
      See another page

       Mucolipidoses   
      See another page

       Sphingolipidoses   

        Fabry Disease   
       See another page

        Gangliosidoses   

         Gangliosidoses, GM2   

          Sandhoff Disease   
         See another page

          Tay-Sachs Disease   
         See another page


         Sandhoff Disease   
        See another page


        Gaucher Disease   
       See another page

        Leukodystrophy, Globoid Cell   
       See another page

        Niemann-Pick Diseases   
       See another page

        Sulfatidosis   

         Leukodystrophy, Metachromatic   
        See another page


      Maple Syrup Urine Disease   
     See another page

      MELAS Syndrome   
     See another page

      Menkes Kinky Hair Syndrome   
     See another page

      Oculocerebrorenal Syndrome   
     See another location

      Ornithine Carbamoyltransferase Deficiency Disease   
     See another page

      Peroxisomal Disorders   
     See another page

       Adrenoleukodystrophy   
      See another page

       Refsum Disease   
      See another page

       Zellweger Syndrome   
      See another page


      Phenylketonurias   
     See another page

      Tyrosinemias   
     See another page


     Carbohydrate Metabolism, Inborn Errors   

      Carbohydrate-Deficient Glycoprotein Syndrome   
     See another page

      Fucosidosis   
     See another page

      Galactosemias   
     See another page

      Glucosephosphate Dehydrogenase Deficiency   
     See another page

      Glycogen Storage Disease   
     See another page

      Lactose Intolerance   
     See another page

      Mannosidase Deficiency Diseases   

       alpha-Mannosidosis   
      See another page


      Mucolipidoses   
     See another page

      Mucopolysaccharidoses   
     See another page

      Multiple Carboxylase Deficiency   

       Biotinidase Deficiency   
      See another page


      Pyruvate Metabolism, Inborn Errors   

       Leigh Disease   
      See another page


     Hyperbilirubinemia, Hereditary   
    See another page

      Gilbert Disease   
     See another page

      Jaundice, Chronic Idiopathic   
     See another page


     Lipid Metabolism, Inborn Errors   

      Hyperlipidemia, Familial Combined   
     See another page

      Hypolipoproteinemias   

       Hypoalphalipoproteinemias   

        Tangier Disease   
       See another page


       Cholesterol Ester Storage Disease   

        Wolman Disease   
       See another page


       Neuronal Ceroid-Lipofuscinoses   
      See another location

       Sphingolipidoses   

        Fabry Disease   
       See another page

        Gangliosidoses   

         Gangliosidoses, GM2   

          Sandhoff Disease   
         See another page

          Tay-Sachs Disease   
         See another page


        Gaucher Disease   
       See another page

        Leukodystrophy, Globoid Cell   
       See another page

        Niemann-Pick Diseases   
       See another page

        Sulfatidosis   

         Leukodystrophy, Metachromatic   
        See another page


      Smith-Lemli-Opitz Syndrome   
     See another location


     Lysosomal Storage Diseases   
    See another page

       Wolman Disease   
      See another page


      Cystinosis   
     See another page

      Lysosomal Storage Diseases, Nervous System   

       Fucosidosis   
      See another page

       Mucolipidoses   
      See another page

       Sphingolipidoses   

        Fabry Disease   
       See another page

        Gangliosidoses   

         Gangliosidoses, GM2   

          Sandhoff Disease   
         See another page

          Tay-Sachs Disease   
         See another page


        Gaucher Disease   
       See another page

        Leukodystrophy, Globoid Cell   
       See another page

        Niemann-Pick Diseases   
       See another page

        Sulfatidosis   

         Leukodystrophy, Metachromatic   
        See another page


      Mannosidase Deficiency Diseases   

       alpha-Mannosidosis   
      See another page


      Mucopolysaccharidoses   
     See another page


     Metal Metabolism, Inborn Errors   

      Hemochromatosis   
     See another page

      Hepatolenticular Degeneration   
     See another page

      Hypophosphatasia   
     See another page

      Menkes Kinky Hair Syndrome   
     See another page

      Paralyses, Familial Periodic   
     See another page


     Peroxisomal Disorders   
    See another page

      Adrenoleukodystrophy   
     See another page

      Refsum Disease   
     See another page

      Zellweger Syndrome   
     See another page


     Porphyrias   
    See another page

      Porphyria, Erythropoietic   
     See another page


     Progeria   
    See another page

     Purine-Pyrimidine Metabolism, Inborn Errors   

      Gout   
     See another page

      Lesch-Nyhan Syndrome   
     See another page


     Renal Tubular Transport, Inborn Errors   

      Oculocerebrorenal Syndrome   
     See another location

      Renal Aminoacidurias   

       Cystinuria   
      See another page

       Hartnup Disease   
      See another page


     Steroid Metabolism, Inborn Errors   

      Adrenal Hyperplasia, Congenital   
     See another page

      Smith-Lemli-Opitz Syndrome   
     See another location


    Muscular Dystrophies   
   See another page

    Nail-Patella Syndrome   
   See another location

    Neoplastic Syndromes, Hereditary   

     Adenomatous Polyposis Coli   
    See another page

     Basal Cell Nevus Syndrome   
    See another location

     Hamartoma Syndrome, Multiple   
    See another page

     Wilms Tumor   
    See another page

     Neurofibromatoses   
    See another location

     Peutz-Jeghers Syndrome   
    See another page


    Osteogenesis Imperfecta   
   See another page

    Skin Diseases, Genetic   

     Albinism   
    See another page

      Albinism, Ocular   
     See another page

      Albinism, Oculocutaneous   

       Hermanski-Pudlak Syndrome   
      See another page


     Cutis Laxa   
    See another page

     Darier Disease   
    See another page

     Ectodermal Dysplasia   
    See another location

      Ellis-Van Creveld Syndrome   
     See another page


     Ehlers-Danlos Syndrome   
    See another page

     Epidermolysis Bullosa   
    See another page

     Incontinentia Pigmenti   
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     Pemphigus, Benign Familial   
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     Porphyria, Erythropoietic   
    See another page

     Pseudoxanthoma Elasticum   
    See another page

     Trichothiodystrophy Syndromes   
    See another location

     Xeroderma Pigmentosum   
    See another page


    Werner Syndrome   
    Werner's Syndrome - NCBI
    Werner syndrome [Janniger and Wozniacka] - eMedicine
    Werner Syndrome - OMIM, NCBI (US)


   Infant, Newborn, Diseases   
   Evaluation and Care of the Normal Neonate (incl Ballard score/Gestational age) - Merck Manual
   Apgar Scoring for Newborns - Childbirth.org (US)
   Apgar Score calculator - MedCALC 3000
   Newborn Screening using Tandem Mass Spectrometry , and a Newborn Screening Practitioner's Manual - MSRGSNet, Arizona (US)
   Education & Assistance for Parents and Patients from Children's Hosp Med C/Cincinnati OH (US)
   Cochrane Reviews in Neonatology via NICHD/NIH (US)
   Birth Disorder Information Directory [links]
   Child (and Teen) health Topics - MedlinePlus, NLM
   infant: Journal of the Neonatal Nurses Assoc. - (UK)

    Amniotic Band Syndrome   
    About Amniotic Band Syndrome
    Amniotic Band Syndrome [Goncalves and Jeanty]
    Amniotic Banding [J Smiles]

    Anemia, Neonatal   

     Fetofetal Transfusion   
     About Twin to Twin Transfusion Syndrome [Zach and Ford] - eMedicine
     Twin2Twin - (UK)
     The Twin Twin Transfusion Syndrome Home Page
     About Acardiac Twin and the TRAP sequence - Fetal Treatment C, UC/SF (US)


    Cystic Fibrosis   
   See another location

    Erythroblastosis, Fetal   
   See another page

     Kernicterus   
    See another page


    Hemorrhagic Disease of Newborn   
   See another page

    Hernia, Umbilical   
    Umbilical Hernia in Children - Cincinnati Children's (US)
    About Umbilical Hernias from the North Penn Hernia Institute - (US)
    What is Omphalocele? - Center for Fetal Diagnosis and Treatment, Philadelphia (US)

    Hydrocephalus   
   See another page

     Dandy-Walker Syndrome   
    See another page


    Hyperbilirubinemia, Neonatal   

     Jaundice, Neonatal   
     A Practical Approach to Neonatal Jaundice [Moerschel et al.] - AAFP, May 2008
     About Jaundice in Newborn Infants - UpToDate.com
     Jaundice in Babies - Royal Prince Alfred Hospital (AU)
     Synopsis of Causes of Neonatal Jaundice - FPNoteBook
     Jaundice and Dehydration in the Early Discharged Healthy Term Newborn [M Ipp]

      Jaundice, Chronic Idiopathic   
     See another page


    Hyperostosis, Cortical, Congenital   
   See another page

    Ichthyosis   
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    Infant, Premature, Diseases   

     Bronchopulmonary Dysplasia   
    See another page

     Respiratory Distress Syndrome, Newborn   
    See another page

     Retinopathy of Prematurity   
    See another page


    Meconium Aspiration Syndrome   
   See another page

    Severe Combined Immunodeficiency   
   See another page

    Syphilis, Congenital   
    About Congenital Syphilis - MedlinePlus/ADAM (US)
    Treatment Guidelines for Congenital Syphilis - CDC, 2006

    Thanatophoric Dysplasia   
   See another page

    Wolman Disease   
   See another page

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