Conditions / Syndrome
orofaciodigital syndrome XI
info · Syndrome
An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
Signs and symptoms
- Postaxial polydactyly
- Cleft palate
- Downslanted palpebral fissures
- Wide nasal bridge
- Hypoplasia of the odontoid process
- Seizure
- Gastroesophageal reflux
- Bulbous nose
- Kyphoscoliosis
- Intellectual disability