wrinkly skin syndrome

A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound h

A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31.

Signs and symptoms

• Epicanthus
• Congenital hip dislocation
• Hypertelorism
• Pes planus
• Progeroid facial appearance
• Redundant skin
• Umbilical hernia
• Low-set ears
• Scaphocephaly
• Long philtrum

Also known as: WSS