Fibrochondrogenesis is a rare congenital disorder characterised by distinctive facial features and skeletal abnormalities. Affected individuals have shortened long bones with dumbbell shaped ends, flattened vertebral bodies, underdeveloped pelvic bones and a narrow chest. Fibrochondrogenesis is neonatally lethal and in those patients who survive infancy, auditory and ocular defects have been observed. Compound heterozygous mutation in the COL11A1 gene is known to cause fibrochondrogenesis 1.