Schwartz-Jampel syndrome 1 (DOID:0090005)
Alliance: disease page
Synonyms: Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome
Alt IDs: OMIM:255800, ICD10CM:G71.1, ORDO:800
Definition: A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.