Conditions / Genetic

Wieacker-Wolff syndrome

info ยท Genetic

A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.

Signs and symptoms

  • Mild intellectual disability
  • Dystonia
  • Short stature
  • Apraxia
  • Seizure
  • Hypotonia
  • U-Shaped upper lip vermilion
  • Generalized hypotonia
  • Palmar hyperkeratosis
  • Smooth philtrum

Also known as: MCS; MRXS4; Miles-Carpenter syndrome; WRWF; X-linked intellectual disability, Miles-Carpenter type