Terminology Service for NFDI4Health

Van Maldergem syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060238


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Van Maldergem syndrome

Synonyms
  • cerebro-facio-articular syndrome
database cross reference
Subsets

DO_rare_slim

comment

NT MGI.

created by

emitraka

creation date

2015-01-27T15:42:05Z

has obo namespace

disease_ontology

id

DOID:0060238