Ontology highlight
ABSTRACT:
SUBMITTER: Sweeney E
PROVIDER: S-EPMC1735400 | biostudies-other | 2003 Mar
REPOSITORIES: biostudies-other
Sweeney E E Fryer A A Mountford R R Green A A McIntosh I I
Journal of medical genetics 20030301 3
Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes, and iliac horns on x ray. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. There is marked inter- and intrafamilial variability. The results of a British study involving 123 NPS patients are compared with previously published studies an ...[more]