Select a specific condition below to view its details.
- Albers-schonberg disease
Osteopetrosis is characterized by overly dense bones throughout the body. 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.
Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type, Read More
- Ekman-lobstein disease
There are four distinct genes that control collagen synthesis. In individuals with OI, some or all of these genes may be impacted with ekman-lobstein disease. Type 1 OI through type 8 OI are the eight subtypes of brittle bone disease that can result from defective genes. The four primary OI categories are as follows: 1. The most prevalent and mildest form of brittle bone disease is type 1 OI. Your body creates hig Read More
- Marble bones
Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. There are three major types of osteopetrosis: the malignant infantile form, the intermediate for Read More