congenital symmetric circumferential skin creases 1

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 TUBB gene on chromosome 6p21.33.

Signs and symptoms

• Epicanthus
• Narrow mouth
• Short palpebral fissure
• Intellectual disability
• Microcephaly
• Circumferential skin creases on extremities
• Low-set ears
• Wide intermamillary distance
• Posteriorly rotated ears
• Cleft palate

Also known as: CSCSC1