Sclerosteosis 2

Overview

Type of disease: Genetic, autosomal recessive | Genetic, autosomal dominant | Rare conditions

Sclerosteosis 2 is a disorder that causes excessive bone formation. This results in bones that are denser and wider than normal. Individuals with this condition have tall or webbed fingers and abnormal nail growth often first noticed at birth or early childhood.

Symptoms of sclerosteosis 2 may include enlarged bones, especially the skull. Abnormal skull growth can cause pinching of nerves in the brain, resulting in an inability to properly move, hear, smell, or see. Enlarged facial bones cause deep eye sockets, misaligned teeth, and large jaws. The individual might also have frequent headaches.

Sclerosteosis 2 is caused by a changed (mutated) SOST2 gene. Genes are inherited in pairs, one from the mother and one from the father. The SOST2 gene is responsible for making sclerostin, a protein that normally functions in preventing bone formation. Sclerosteosis 2 is inherited in an autosomal recessive manner meaning that two mutated genes needs to be present, one from the mother and one from the father, to have the disorder. Most individuals with this disorder will have parents with the condition, or their parents will be carriers, meaning they only have one mutated gene and do not show any symptoms.

Physicians can diagnose sclerosteosis 2 by examining the patient for abnormal bone growth or by ordering x-rays for confirmation. Genetic testing is also available to determine if an individual has sclerosteosis 2. Genetic counseling may accompany testing as well to help patients with their decision-making process.

Upon diagnosis, pain therapy for joints and drug therapy exist to help manage the symptoms. Surgery is also available as a treatment option. If you or a family member has been diagnosed with sclerosteosis 2, talk with your doctor about the most current treatment options. Support groups may also provide resources for support and information.

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