Coffin-Siris syndrome 7

A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_

A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1.

Signs and symptoms

• Hypoplastic fifth toenail
• Intellectual disability
• Global developmental delay
• Delayed speech and language development
• Downslanted palpebral fissures
• Sparse scalp hair
• Constipation
• Delayed ability to walk
• Recurrent otitis media
• Prominent forehead

Also known as: CSS7