| Metadata | |
|---|---|
| ID | DOID:0060225 |
| Name | 3MC syndrome |
| Definition | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. https://www.ncbi.nlm.nih.gov/pubmed/16096999 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
craniofacial-ulnar-renal syndrome [EXACT] oculopalatoskeletal syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has symptom some ptosis has material basis in some autosomal recessive inheritance |