Coffin-Siris syndrome; fifth digit syndrome

Genetics

• usually occurs for first time in a family due to a new mutation
• autosomal dominant
• mutations in ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1

Clinical manifestations

• variable learning disability, developmental delay
• underdeveloped toenails or fingernails
• distinct facial features
  • wide mouth, thick lips, thick eyelashes & brows, wide nose, & flat nasal bridge
  • extra hair growth on the face & body
• sparse scalp hair

Management

• occupational therapy, physical therapy, &/or speech therapy

More general terms

• genetic syndrome (multisystem disorder)