Conditions / Syndrome
Floating-Harbor syndrome
info · Syndrome
A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips
A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
Signs and symptoms
- Aggressive behavior
- Expressive language delay
- Glanular hypospadias
- Prominent nose
- Bulbous nose
- Low hanging columella
- Generalized hypertrichosis
- Delayed speech and language development
- Atopic dermatitis
- Underdeveloped nasal alae
Also known as: FLHS