| Metadata | |
|---|---|
| ID | DOID:2580 |
| Name | rhizomelic chondrodysplasia punctata |
| 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. http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, https://www.ncbi.nlm.nih.gov/pubmed/15679822 |
| Xrefs |
SNOMEDCT_US_2023_03_01:56692003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Chondrodysplasia Punctata, Rhizomelic Form [EXACT] |
| Parent Relationships |