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dyssegmental dysplasia Silverman-Handmaker type (DDSH)
Epidemiology: rare
Pathology: skeletal dysplasias
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
General
dwarfism (nanism)
genetic disease of bone/skeletal system
Database Correlations
OMIM correlations
References
- OMIM :accession 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: 11279527