Dyssegmental dysplasia Silverman-Handmaker type
Alternate names[edit | edit source]
DDSH; Dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Dyssegmental dysplasia Silverman-Handmaker type is a rare disease.
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