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Metadata
ID DOID:0060238
Name Van Maldergem syndrome
Definition A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
https://www.ncbi.nlm.nih.gov/pubmed/1633641
Xrefs

MESH:C536530

OMIM:601390

OMIM:615546

ORDO:314679

UMLS_CUI:C1832390

Subsets

DO_rare_slim

Synonyms

cerebro-facio-articular syndrome [EXACT]

Parent Relationships

is_a syndrome

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