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: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Heart Septal Defects: 42
        Ventricular Heart Septal Defects: 2294
        Floating-harbor syndrome: 90
  - Multiple Abnormalities: 213
    - Floating-harbor syndrome: 90
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Floating-harbor syndrome: 90
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Growth Disorders: 2351
    - Floating-harbor syndrome: 90
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Heart Septal Defects: 42
      - Ventricular Heart Septal Defects: 2294
        Floating-harbor syndrome: 90
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Heart Septal Defects: 42
      - Ventricular Heart Septal Defects: 2294
        Floating-harbor syndrome: 90
Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Floating-harbor syndrome: 90

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