Floating-harbor syndrome

A rare hereditary autosomal dominant disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips, Mutations in the SRCAP gene have been identified. OMIM: 136140

Also Known As:

FLHS; Leisti-Hollander-Rimoin Syndrome; Pelletier-Leisti syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Heart Septal Defects: 41
        Ventricular Heart Septal Defects: 2271
        Floating-harbor syndrome: 78
  - Multiple Abnormalities: 211
    - Floating-harbor syndrome: 78
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Floating-harbor syndrome: 78
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Floating-harbor syndrome: 78
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Heart Septal Defects: 41
      - Ventricular Heart Septal Defects: 2271
        Floating-harbor syndrome: 78
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Heart Septal Defects: 41
      - Ventricular Heart Septal Defects: 2271
        Floating-harbor syndrome: 78
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Floating-harbor syndrome: 78

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Disease

Drug/Important Bio-Agent (IBA)