Silverman-Handmaker type dyssegmental dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type https://www.malacards.org/card/dyssegmental_dysplasia_silverman_handmaker_type_2 OMIM:224410 DDSH dyssegmental dysplasia, Silverman-Handmaker type UMLS:C1857100 ICD9:759.89 MEDGEN:347372 Orphanet:1865 dyssegmental dwarfism Silverman-Handmaker type 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. SCTID:93132001 GARD:0002026 dyssegmental dysplasia Silverman-Handmaker type MONDO:0009140 DOID:0090032 MESH:C537998 Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type neuromuscular disease caused by qualitative or quantitative defects of perlecan spondyloepiphyseal dysplasia