Schwartz-Jampel syndrome 1

Term ID

DOID:0090005

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

Definition

A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (3)

References

• GARD:250
• ICD10CM:G71.1
• OMIM:255800
• ORDO:800

Ontology

Human Disease   ( DOID:0090005 )