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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

GARD:1118

ICD10CM:Q87.8

OMIM:PS257920

ORDO:293843

Subsets

DO_rare_slim

Synonyms

craniofacial-ulnar-renal syndrome [EXACT]

oculopalatoskeletal syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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