Coffin-Siris syndrome

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Disease Overview

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or SMARCE1 genes.[15406] 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 mutation.[6176] Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.[6177]


Synonyms

  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx

For more information, visit GARD.

National Organization for Rare Disorders