Coffin-Siris syndrome 5

A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene

A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.

Signs and symptoms

• Short stature
• Coarse facial features
• Recurrent infections
• Short distal phalanx of finger
• Hypoplastic toenails
• Dandy-Walker malformation
• Thin upper lip vermilion
• Thick lower lip vermilion
• Intellectual disability
• Wide mouth

Also known as: CSS5