Schwartz-Jampel syndrome
Findings
No curated finding names Schwartz-Jampel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin), and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
Definition from the Mondo Disease Ontology (MONDO:0009717), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
111 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Elevated circulating aldolase concentrationHPOHP:0012544
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
Show the remaining 99
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Metatarsus valgusHPOHP:0010508
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HSPG2HGNC:5273
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: Schwartz-Jampel syndrome
- Also called
- Aberfeld syndromeburton skeletal dysplasiaburton syndromeCatel-Hempel syndromeCatel-Hempel type dysostosis enchondralis metaepiphysariadysostosis enchondralis metaepiphysaria, Catel-Hempel typemyotonic chondrodystrophymyotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomaliesOsteochondromuscular dystrophySchwartz Jampel SyndromeSchwartz-Jampel-Aberfeld syndromeSJS