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Osteoporosis - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 15 June 2022

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Juvenile primary osteoporosis

"Juvenile primary osteoporosis is a skeletal disorder that begins in childhood and is characterized by bone thinning. " Generally, affected people have multiple fractures in the long bones of the arms and legs, especially in the areas where new bone formation is prevalent. Multiple fractures can cause bone pain and lead to mobility difficulties, and can lead to mobility difficulties.

Source link: https://medlineplus.gov/genetics/condition/juvenile-primary-osteoporosis


Osteoporosis-pseudoglioma syndrome

"Osteoporosis-pseudoglioma syndrome is a rare disease that causes bone thinning and eye abnormalities that lead to vision loss. Osterosis is common in early childhood in people with this disorder. Many bone fractures are common in the spine bones, which include multiple bone fractures. Decreased bone mineral content can also lead to softening or thinning of the skull. Vision problems are usually caused by one of several eye disorders linked together as pseudoglioma, which affect the light-sensitive tissue at the back of the eye, although other eye disorders have been documented in affected individuals. Pseudogliomas are so named because, on examination, the signs resemble an eye tumor classified as a retinal glioma. Often, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual impairment, reduced muscle tone, abnormally elastic joints, or seizures. ".

Source link: https://medlineplus.gov/genetics/condition/osteoporosis-pseudoglioma-syndrome


Hajdu-Cheney syndrome

"In Hajdu-Cheney syndrome, bone abnormalities throughout the body are common. " The appearance and durability of the long bones in the arms and legs is also affected by Hajdu-Cheney syndrome. The bones of the face are also affected by Hajdu-Cheney syndrome, which also causes abnormalities of the skull bones. Some affected children are born with a cleft palate or a high arched palate. Normalities that result in Hajdu-Cheney syndrome, which affect approximately half of all affected people, include platybasia and basilar invagination. Playbasia is a flattening of the skull base caused by thinning and softening of the skull bones. The invagination of Basilar occurs when the bones are softened, allowing a portion of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower portions of the brain. Hajdu-Cheney syndrome signs and symptoms vary widely among affected individuals, even among members of the same family. Over time, the risk of experiencing platybasia and basilar invagination has risen. Hajdu-Cheney syndrome's signs and symptoms are closely related to those of a condition called serpentine fibula-polycystic kidney disease. Many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same disease based on these similarities.

Source link: https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome


Snyder-Robinson syndrome

"Snyder-Robinson syndrome" is a medical disorder that is associated with intellectual impairment, muscle and bone abnormalities, and other developmental problems. Males with Snyder-Robinson syndrome have delayed growth and intellectual impairment since in early childhood. Speech often arrives late, and speech difficulties are common. Snyder-Robinson syndrome is a chronic disease of the bones, especially thinning of the bones that begins in early childhood. Osteoporosis causes the bones to be brittle and to break easily, often during daily activities. Broken bones occur most often in the arms and legs in people with Snyder-Robinson syndrome. Snyder-Robinson syndrome is characterized by a prominent lower lip; a high, narrow roof of the mouth; or an opening in the roof of the mouth; and differences in the size and shape of the right and left sides of the mouth.

Source link: https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome


Lysinuric protein intolerance

"Lysinuric protein intolerance is a result of the body's inability to digest and use certain protein building blocks, namely lysine, arginine, and ornithine. People with lysinuric protein intolerance have enlarged liver and spleen, short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture. Infants are typically weaned and receive greater amounts of protein from solid foods, and lysinuric protein intolerance are present.

Source link: https://medlineplus.gov/genetics/condition/lysinuric-protein-intolerance


Cushing disease

"Affected individuals may have stretch marks on their thighs and abdomen, as well as bruises quickly. " Individuals with Cushing disease can have a hump on their upper back that can be caused by abnormal fat deposits. Cushing disease can cause mood disorders such as nausea, irritability, and depression. People with Cushing disease have an elevated risk of having elevated blood pressure and diabetes. Women with Cushing disease may have irregular menstruation and excessive hair growth on their face, abdomen, and legs. Erectile dysfunction can be present in men with Cushing disease. Children with Cushing disease are expected to grow slowly as a result of poor growth.

Source link: https://medlineplus.gov/genetics/condition/cushing-disease

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions