rhizomelic chondrodysplasia punctata (DOID:2580)
Alliance: disease page
Synonyms: Chondrodysplasia Punctata, Rhizomelic Form
Alt IDs: ICD10CM:E71.540, MESH:D018902, NCI:C85047, OMIM:PS215100, ORDO:177, UMLS_CUI:C0282529
Definition: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.