Term Name: | rhizomelic chondrodysplasia punctata |
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Synonyms: | Chondrodysplasia Punctata, Rhizomelic Form |
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. |
Ontology: | Human Disease [DOID:2580] ( DOID:2580 ) |