Conditions / Syndrome
Keipert syndrome
info · Syndrome
A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
Signs and symptoms
- Hypertelorism
- Wide nose
- Intellectual disability
- Midface retrusion
- Broad hallux
- Prominent forehead
- Downturned corners of mouth
- Macrocephaly
- Broad distal phalanx of finger
- Brachydactyly
Also known as: KPTS; nasodigitoacoustic syndrome