Osteopetrosis autosomal dominant type 1

Alternate names

OPTA1; Autosomal dominant osteopetrosis type 1

Definition

Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.

Cause

Osteopetrosis may be caused by mutations in at least 10 genes.

Inheritance

Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.

Signs and symptoms

• Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray.
• Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia.
• In rare cases, there may be neurological impairment or involvement of other body systems.

Diagnosis

Molecular Genetics Tests includes:

• Targeted variant analysis
• Sequence analysis of the entire coding region
• Deletion/duplication analysis

Treatment

• Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery.
• Adult osteopetrosis requires no treatment by itself, but complications may require intervention.

NIH genetic and rare disease info

• NIH info on Osteopetrosis autosomal dominant type 1

Osteopetrosis autosomal dominant type 1 is a rare disease.

Osteopetrosis autosomal dominant type 1 Resources
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