Coffin-Siris syndrome 10

A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on

A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3.

Signs and symptoms

• Exaggerated cupid's bow
• Intellectual disability
• Wide mouth
• Delayed speech and language development
• Global developmental delay
• Clinodactyly of the 5th finger
• Anteverted nares
• Delayed ability to walk
• Infra-orbital crease
• Epicanthus

Also known as: CSS10