Armfield syndrome

info · Genetic · ICD-10: Q87.8

A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.

Signs and symptoms

Short foot
Short stature
Seizure
Prominent forehead
Small hand
Intellectual disability
Abnormal hand morphology
Cleft palate
Strabismus
Malar flattening

Also known as: Armfield X-linked mental retardation syndrome; MRXSA; X-linked intellectual disability, Armfield type; mental retardation syndrome, X-linked, Armfield type; syndromic X-linked mental retardation Armfield type