Osteopetrosis autosomal recessive 7

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Disease Overview

Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[11886][11888] 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.[11886] Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessiveautosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. 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.[11887]


Synonyms

  • OPTB7
  • Autosomal recessive osteopetrosis type 7
  • Osteopetrosis osteoclast-poor with hypogammaglobulinemia
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia

For more information, visit GARD.

National Organization for Rare Disorders