Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic disease · Progeroid syndrome
XFE progeroid syndrome
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.
This condition has no sub-types.