XFE progeroid syndrome
XFE progeroid syndrome
Definition
A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.
Also known as XFE progeroid syndrome, XFEPS, XPF-ERCC1 progeroid syndrome — per MONDO