Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal …show more content…
Males and females are affected in equal numbers. The adult type of osteopetrosis affects about 1,250 individuals in the United
States. One in every 200,000 individuals is affected by the adult type of osteopetrosis. The intermediate type of osteopetrosis is believed to affect males more often than females.
Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.The most severe type of osteopetrosis, malignant infantile type, is apparent from birth. Affected individuals may have an abnormally large head. Some affected individuals may have a condition called hydrocephalus that is characterized by inhibition of the normal flow of cerebrospinal fluid within and abnormal widening of the cerebral spaces of the brain, causing accumulation of CSF in the skull and potentially increased pressure on brain
7 tissue. Symptoms that may affect the eyes may include wasting away of the retina, eyes that appear widely spaced, eyes that are crossed, involuntary rhythmic movements of
Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal …show more content…
Males and females are affected in equal numbers. The adult type of osteopetrosis affects about 1,250 individuals in the United
States. One in every 200,000 individuals is affected by the adult type of osteopetrosis. The intermediate type of osteopetrosis is believed to affect males more often than females.
Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.The most severe type of osteopetrosis, malignant infantile type, is apparent from birth. Affected individuals may have an abnormally large head. Some affected individuals may have a condition called hydrocephalus that is characterized by inhibition of the normal flow of cerebrospinal fluid within and abnormal widening of the cerebral spaces of the brain, causing accumulation of CSF in the skull and potentially increased pressure on brain
7 tissue. Symptoms that may affect the eyes may include wasting away of the retina, eyes that appear widely spaced, eyes that are crossed, involuntary rhythmic movements of