Conditions / Syndrome
Coffin-Lowry syndrome
info · Syndrome
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromoso
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
Signs and symptoms
- Thoracic lordosis
- Hearing impairment
- Short stature
- Short nose
- Broad columella
- Prominent forehead
- Hypertelorism
- Thick nasal septum
- Intellectual disability
- Downslanted palpebral fissures