Angiokeratoma mental retardation coarse face
Overview
A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
Symptoms
- Coarse face
- Coarse hair
- Thick hair
- Depressed nasal bridge
- Capillary hemangioma
- Respiratory distress
- Hypertonia
- Spasticity
- Rigidity
- Kyphosis
- Mental retardation
- Metabolism anomalies
- Restricted joint mobility
- Short stature
- Thick lips
- Thick skin
- Claw hand
- Epicanthic folds
- Increased body hair
- Movement disorder
- Retinal vascular changes