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  THIRD EDITION

Factsheets

These factsheets give basic information on the top 100 conditions that every student needs to know.

Chromosomal disorders

  1. Trisomy 13
  2. Trisomy 18
  3. Trisomy 21
  4. XXY
  5. Turner syndrome
  6. XYY
  7. XXX
  8. Velo-cardio-facial/DiGeorge syndrome
  9. Prader-Willi syndrome
  10. Angelman syndrome
  11. Williams syndrome

Cancer Predispositon Syndromes

  1. Cowden syndrome
  2. Li-Fraumeni syndrome
  3. Hereditary breast and ovarian cancer
  4. Familial adenomatous polyposis
  5. Hereditary nonpolyposis colon cancer
  6. von Hippel-Lindau syndrome
  7. Neurofibromatosis
  8. Tuberous sclerosis complex
  9. Multiple endocrine neoplasia
  10. Retinoblastoma

Dermatologic disorders

  1. Incontinentia Pigmenti
  2. Ectodermal dysplasia
  3. Albinism
  4. Epidermolysis bullosa

Gastrointestinal disorders

  1. Hemochromatosis
  2. Wilson disease

Pulmonary disorders

  1. Cystic fibrosis
  2. α1-antitrypsin deficiency

Neurological disorders

  1. Huntington disease
  2. Holoprosencephaly
  3. Hereditary ataxia
  4. Fragile X syndrome
  5. Rett syndrome
  6. Canavan disease
  7. Hereditary dystonia
  8. Alzheimer disease
  9. Autism
  10. Ataxia-telangiectasia

Neuromuscular disorders

  1. Spinal muscular atrophy
  2. Duchenne/Becker muscular dystrophy
  3. Myotonic dystrophy
  4. Familial dysautonomia
  5. Hereditary motor and sensory neuropathy

Hematological disorders

  1. Hemoglobinopathies
  2. Hereditary angioedema
  3. Hemophilias
  4. Thrombophilia
  5. Hereditary hemorrhagic telangiectasia

DNA Repair disorders

  1. Bloom syndrome
  2. Xeroderma pigmentosum
  3. Fanconi anemia

Congenital anomaly

  1. Neural tube defect
  2. CHARGE syndrome
  3. Beckwith-Wiedemann
  4. VACTERL association
  5. Noonan syndrome
  6. Progeria
  7. Craniosynostosis
  8. Hirschsprung disease

Renal/Genital Disorders

  1. Polycystic kidney disease
  2. Androgen insensitivity syndrome
  3. Y chromosome infertility

Skeletal/Connective Tissue

  1. Osteogenesis imperfecta
  2. Marfan syndrome
  3. Ehlers-Danlos syndrome
  4. Achondroplasia

Endocrine Disorders

  1. Congenital adrenal hyperplasia
  2. Diabetes mellitus

Cardiovascular disorders

  1. Cardiomyopathy
  2. Holt-Oram syndrome
  3. Long QT syndrome

Inborn Errors of Metabolism

  1. Phenylketonuria
  2. Maple syrup urine disease
  3. Organic acidemia
  4. Alkaptonuria
  5. Adrenoleukodystrophy/peroxisomal disorders
  6. Fatty acid oxidation disorders
  7. Fabry disease
  8. Gaucher disease
  9. Niemann-Pick disease
  10. Tay-Sachs disease
  11. Menkes disease
  12. Smith-Lemli-Opitz syndrome
  13. Glycogen storage disease
  14. Mucopolysaccharidosis
  15. Urea cycle disorders
  16. Familial hypercholesterolemia
  17. Homocystinuria
  18. Lesch-Nyhan syndrome
  19. MELAS
  20. MERFF
  21. Leber hereditary optic neuropathy
  22. Acute intermittent porphyria
  23. Tangier disease
  24. Galactosemia
  25. Tyrosinemia

Sensory disorders

  1. Hereditary deafness
  2. Color blindness
  3. Retinitis pigmentosum
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