Silverman-Handmaker type dyssegmental dysplasia
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.
MONDO:0016151
neuromuscular disease caused by qualitative or quantitative defects of perlecan
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MONDO:0016761
spondyloepiphyseal dysplasia
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Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
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DDSH
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dyssegmental dwarfism Silverman-Handmaker type
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dyssegmental dysplasia Silverman-Handmaker type
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dyssegmental dysplasia, Silverman-Handmaker type
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