dyssegmental dysplasia Silverman-Handmaker type (DDSH)
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Epidemiology
rare
Pathology
Genetics
- autosomal recessive
- associated with defects in perlecan (HSPG2)
Clinical manifestations
- lethal, neonatal form of dyssegmental dwarfism
- anisospondyly, micromelia
- flat face, micrognathia, cleft palate
- reduced joint mobility
- frequently have an encephalocoele
- the endochondral growth plate is short
- calcospherites are unfused
- mucoid degeneration of resting cartilage
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/224410
- ↑ Arikawa-Hirasawa et al Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nature Genetics 27:431-34 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11279527