Schimke Immunoosseous Dysplasia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency.

**Synonyms:** - Schimke Immuno-Osseous Dysplasia