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sclerosteosis 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
Uniprot Description A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
Mondo Term and Equivalent IDs
MONDO:0013679:  sclerosteosis 2
UMLS:C3280402: