dyssegmental dysplasia—Silverman-Handmaker type

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dyssegmental dysplasia—Silverman-Handmaker type2016-11-25T19:03:43+00:00

dyssegmental dysplasia—Silverman-Handmaker type 

GENETICS  

Definition A severe lethal form (OMIM:224410) of dyssegmental dysplasia* characterised by flat facies micrognathia, cleft palate, reduced joint mobility, and encephalocoele. The endochondral growth plate is short, calcospherites** are unfused, and there is mucoid degeneration of resting cartilage.

Comments *Dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with anisospondyly and micromelia. There is also the milder Rolland-Desbuquois form. **Spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes.

Molecular pathology Defects of HSPG2, which encodes perlecan, a multidomain proteoglycan that is a major component of basement membranes, where it is involved in stabilising other molecules, cause dyssegmental dysplasia—Silverman-Handmaker type. 

Synonyms Anisospondylic camptomicromelic dyssegmantal dwarfism, dyssegmental dwarfism Silverman-Handmaker type

References http://www.uniprot.org/uniprot/P98160#section_comments

http://www.omim.org/entry/224410

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