Van Maldergem syndrome

Definition:

Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.

References:

[1]. Silvia Cappello, et al. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. [Content Brief]

[2]. T M Neuhann, et al. A further patient with van Maldergem syndrome. Eur J Med Genet. 2012 Jun;55(6-7):423-8. [Content Brief]

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