Details of Disease

General Information of Disease (ID: DISV9YP7)

• Disease Name: Van Maldergem syndrome
• Synonyms: Van Maldergem Wetzburger Verloes syndrome; cerebro-facio-articular syndrome of Van Maldergem; Van Maldergem syndrome; cerebro-facio-articular syndrome
• Definition: 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 Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISV9YP7: Van Maldergem syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017813
  MESH ID: C536530
  UMLS CUI: C1832390
  MedGen ID: 318616
  Orphanet ID: 314679
  SNOMED CT ID: 763353000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCHS1	OTW3GX62	Supportive	Autosomal recessive	[1]
FAT4	OT7QONNV	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.