XFE progeroid syndrome

XFE progeroid syndrome is a condition marked by unusual aging features. People with this condition may have a bird-like facial appearance, reduced body fat, small stature (dwarfism), and a small head (microcephaly). Other noted features include sensitivity to the sun from birth, cachexia (severe weight loss and muscle wasting), learning difficulties, hearing loss, and visual impairment. The condition has a clear genetic cause related to a mutation in the ERCC4 gene.

Common signs and symptoms include an aged, bird-like facial appearance, lack of subcutaneous fat, dwarfism, cachexia, and microcephaly. Additional features are sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.

This condition is caused by a genetic mutation. In particular, a homozygous mutation in the ERCC4 gene on chromosome 16p13 is associated with the syndrome. This genetic change affects many systems in the body and contributes to the features seen in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.