Dyssegmental dysplasia, Silverman-Handmaker type

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Dyssegmental dysplasia, Silverman-Handmaker type

Dyssegmental dysplasia Silverman-Handmaker type is a rare genetic primary bone dysplasia disorder and lethal form of neonatal short-limbed dwarfism characterized by anisospondyly severe short stature and limb shortening metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance abnormal ears short neck narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures bowed limbs talipes equinovarus) and urogenital and cardiovascular abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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