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van Maldergem syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0017813:  van Maldergem syndrome
GARD:0005456: 
OMIMPS:601390: 
Orphanet:314679: 
UMLS:CN203783: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)