congenital symmetric circumferential skin creases 2

A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutat

A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.

Signs and symptoms

• Intellectual disability
• Hypoplasia of the corpus callosum
• Microphthalmia
• Ventriculomegaly
• Wide nasal bridge
• Circumferential skin creases on extremities
• Short palpebral fissure
• Cleft palate
• Low-set ears
• Epicanthus

Also known as: CSCSC2