CLIFAHDD Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant inherited genetic syndrome affecting the face, nervous system, and extremities that is caused by, typically de novo, mutation(s) in the NALCN gene, encoding sodium leak channel NALCN. It is characterized by congenital contractures of the limbs and face, and presents with distinctive facial features, hypotonia, and developmental delay.

**Synonyms:** - CLIFAHDD - Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay