| Metadata | |
|---|---|
| ID | DOID:0060384 |
| Name | acrofacial dysostosis, Catania type |
| Definition | An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type |
| Xrefs |
SNOMEDCT_US_2023_03_01:720419000 |
| Subsets |
DO_rare_slim |
| Synonyms |
Opitz Mollica Sorge syndrome [EXACT] Opitz-Caltabiano syndrome [EXACT] |
| Parent Relationships |