Conditions / Syndrome
Klippel-Feil syndrome 1
info · Syndrome
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Signs and symptoms
- Abnormal vertebral segmentation and fusion
- Short neck
- Limited neck range of motion
- Cervical C2/C3 vertebral fusion
- Hearing impairment
- Scoliosis
- Low posterior hairline
- Congenital muscular torticollis
- Cervicomedullary schisis
- Webbed neck