Conditions / Musculoskeletal

Hajdu-Cheney syndrome

info · Musculoskeletal

A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.

Signs and symptoms

Narrow mouth
Hypertelorism
Thick eyebrow
Conductive hearing impairment
Low-set ears
Long philtrum
Malar flattening
Wormian bones
Foot acroosteolysis
Osteoporosis

Also known as: Cheney syndrome; HJCYS; SFPKS; acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia