fragile X syndrome

info · Syndrome · ICD-10: Q99.2

A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.

Signs and symptoms

Moderate intellectual disability
Hyperactivity
Reduced eye contact
Seizure
Coarse facial features
Periventricular heterotopia
Autism
Macrocephaly
Pes planus
Abnormal head movements

Also known as: FRAGILE X MENTAL RETARDATION SYNDROME; MARKER X SYNDROME; MARTIN-BELL SYNDROME