NIH

Zebra of the Week: Coffin-Siris syndrome

May 5, 2025

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped fifth toenails or fingernails, and distinct facial features. It can be caused by a change in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance; however, it usually occurs for the first time in a family due to a new genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.

• Population estimate: Fewer than 1,000 people in the U.S. have this disease.
• Symptoms: May start to appear as a newborn.

Source:

NIH GARD. (Accessed 2025, May 2). Coffin-Siris syndrome. https://rarediseases.info.nih.gov/diseases/6124/coffin-siris-syndrome