Conditions / Syndrome
Klippel-Feil syndrome 4
info · Syndrome
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
Signs and symptoms
- Low posterior hairline
- Bulbous nose
- Microcephaly
- Ptosis
- Webbed neck
- Cervical C2/C3 vertebral fusion
- Narrow forehead
- Long philtrum
- Short stature
- Myopathy