Alternative titles and symbols : Cerebrofacioarticular syndrome;
Description : Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual
disability, typical craniofacial features, auditory malformations resulting in hearing
loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain
MRI typically shows periventricular nodular heterotopia (summary by Cappello et al.,
2013). - Genetic Heterogeneity of Van Maldergem Syndrome See also VMLDS2 (615546),
caused by mutation in the FAT4 gene (612411) on chromosome 4q28.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homolog of the Drosophila dachsous 1 gene (DCHS1, 603057.0001);