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DOID:0060238 - Van Maldergem syndrome
Disease Ontology 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.
Synonyms: cerebro-facio-articular syndrome
Xenbase Genes
:
fat4,
dchs1
| MONDO:0017813 - van Maldergem syndrome |
| MIM:601390 - VAN MALDERGEM SYNDROME 1; VMLDS1 |
| MIM:615546 - VAN MALDERGEM SYNDROME 2; VMLDS2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)