XFE progeroid syndrome

info · Syndrome

A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.

Signs and symptoms

Severe short stature
Premature ovarian insufficiency
Hearing impairment
Defective DNA repair after ultraviolet radiation damage
Renal insufficiency
Hypoalbuminemia
Failure to thrive
Dry skin
Enamel hypoplasia
Blindness

Also known as: XFEPS; XPF-ERCC1 progeroid syndrome