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