autosomal dominant cutis laxa 3

An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with bri

An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Signs and symptoms

• Corneal opacity
• Dermal translucency
• Hypotonia
• Prominent forehead
• Broad forehead
• Protruding ear
• Cutis laxa
• Joint hypermobility
• Global developmental delay
• Premature skin wrinkling

Also known as: ADCL3