ZFIN Human Disease: Van Maldergem syndrome

OBO ID: DOID:0060238

OBO ID: DOID:0060238

Term Name:	Van Maldergem syndrome	Search Ontology:
Synonyms:	cerebro-facio-articular 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
References:	GARD:5456 MESH:C536530 OMIM:PS601390 ORDO:314679 UMLS_CUI:C1832390
Ontology:	Human Disease (DOID:0060238)

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms
has subtype:	Van Maldergem syndrome 1 Van Maldergem syndrome 2 Van Maldergem syndrome 1 Van Maldergem syndrome 2 Show first 5 Terms

OTHER Van Maldergem syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)

Home Help and Tips Glossary Committees Citing ZFIN Contact About ZFIN Jobs