Van Maldergem Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI.

**Synonyms:** - VMLDS1