Conditions / Syndrome
Klippel-Feil syndrome 2
info · Syndrome
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
Signs and symptoms
- Cleft palate
- Scoliosis
- Low posterior hairline
- Short neck
- Ventricular septal defect
- Sensorineural hearing impairment
- Fused cervical vertebrae
- Sprengel anomaly
- Conductive hearing impairment
- Limited neck range of motion