Coffin-Siris syndrome 9

An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on c

An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.

Signs and symptoms

• Mild intellectual disability
• Short stature
• Hypoplastic fifth toenail
• Hypoplastic fifth fingernail
• Hypertrichosis
• Clinodactyly
• Posteriorly rotated ears
• Microcephaly
• Everted lower lip vermilion
• Full cheeks

Also known as: MRD27; autosomal dominant mental retardation 27; autosomal dominant non-syndromic intellectual disability 27