Silverman-Handmaker type dyssegmental dysplasia

Term ID

DOID:0090032

Synonyms

Definition

An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (2)

References

• ICD10CM:Q77.7
• OMIM:224410
• ORDO:1865

Ontology

Human Disease   ( DOID:0090032 )