| H01777 | |
| H number | H01777 |
| Name | Schwartz-Jampel syndrome |
| Description | Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | HSPG2 [HSA:3339] [KO:K06255] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype. See also H00462 Stuve-Wiedemann syndrome and H00493 Heparan sulfate proteoglycan gene defects. |
| Other DBs | ICD-11: 8C71.1 ICD-10: G71.1 MeSH: D010009 OMIM: 255800 |
| Reference | PMID:27857801 AUTHORS Polat I, Karaoglu P, Yis U, Kurul SH TITLE Schwartz-Jampel syndrome with gastroduodenal bleeding. JOURNAL J Pediatr Neurosci 11:255-257 (2016) DOI:10.4103/1817-1745.193351 PMID:16927315 AUTHORS Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S TITLE Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. JOURNAL Hum Mutat 27:1082-91 (2006) DOI:10.1002/humu.20388 |