The syndrome varies in severity. Patients have dysmorphic features, structural abnormalities affecting almost all areas of their body and learning disability.
Clinical features
- Holoprosencephaly - (HPE) is the failure of the prosencephalon, or forebrain, to develop normally
- Polydactyly
- Seizures
- Deafness
- Microcephaly
- Midline Cleft Lip/Palate
- Abnormal ears
- Sloping forehead
- Cutis aplasia - describes an area of skin that has not formed fully and is a congenital condition.
- Omphalocele
Complications
- Cardiac and renal anomalies