clinical features
Last reviewed 01/2018
This syndrome is characterised by:
- distinct facies
- abnormalities of hands and feet:
- broad thumbs and toes
- clinodactyly
- dislocation of the radial head
- hip dislocation
- proportionate short stature
- occasionally mental retardation
- undescended testes
The distinct facies includes:
- prominent supraorbital ridges
- a broad nasal root
- flattening of the midface
- micrognathia
- anti-mongoloid slant of eyes
There is an association between cleft palate and conductive deafness.
mental retardation (term that has been replaced by intellectual developmental disorder)