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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1782
Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
Less than 30 cases have been reported in the literature to date.
The disease is characterized by sclerosis of the skull base, ribs, clavicles, scapulae, mid-diaphyses and increased bone fragility. Patients have a prominent forehead, narrow midface, flattening of the vertebral bodies and dental anomalies. Short stature, optic atrophy, hearing impairment, epilepsy, skin changes, and progressive psychomotor deficit are frequent.
The disease is caused by mutations in SLC29A33. This gene encodes a nucleoside transporter. Mutations in this gene may also cause Faisalabad histiocytosis, RosaÔ-Dorfman disease, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (see these terms). Parental consanguinity has been noted in some cases.
Dysosteosclerosis is inherited in an autosomal recessive manner, but an X-linked pedigree has also been reported.
The overall prognosis is generally poor.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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