Silverman-Handmaker type dyssegmental dysplasia

MONDO:0009140

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, 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.

Also known as: Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type, Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type, DDSH, dyssegmental dwarfism Silverman-Handmaker type, dyssegmental dwarfism, Silverman-Handmaker type, dyssegmental dysplasia Silverman-Handmaker type, dyssegmental dysplasia, Silverman-Handmaker type

0 clinical trials for this condition and its sub-types, 0 tagged with Silverman-Handmaker type dyssegmental dysplasia itself.

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↑ Spondyloepiphyseal dysplasia (8) ↑ Neuromuscular disease caused by qualitative or quantitative defects of perlecan (0)

Including sub-types (0) Tagged with Silverman-Handmaker type dyssegmental dysplasia (0)

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