Marshall syndrome

Marshall syndrome is a rare malformation syndrome recorded by Orphanet under ORPHAcode 560. Orphanet defines it by a particular combination of features: distinctive differences in the face, severe underdevelopment of the nasal bones and the frontal sinuses, involvement of the eyes, hearing loss that begins early in life, abnormalities of the skeleton and of tissues of ectodermal origin without sweating, and short stature with spondyloepiphyseal dysplasia, a disorder of the growing ends of the long bones and the spine. People with it also develop osteoarthritis at an early age. The Atlas places it among the congenital malformation conditions because Orphanet types it as a malformation syndrome and cross-references it to the ICD-10 code Q87.0, which sits in the chapter on congenital malformations, deformations and chromosomal abnormalities.