Schwartz-Jampel syndrome 1

info · Syndrome · ICD-10: G71.1

A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.

Signs and symptoms

Muscle stiffness
Mask-like facies
Micrognathia
Short stature
Skeletal muscle atrophy
Pursed lips
Skeletal muscle hypertrophy
Low-set ears
Quadriceps muscle weakness
High palate

Also known as: Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria