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Atelosteogenesis, type II



Atelosteogenesis, type II Definition


Atelosteogenesis, type II is a rigorous disorder of the bone and cartilage growth. It is very unusual and baby with this disorder are usually stillborn, though some infant survive they die after caused by respiratory failure.


Atelosteogenesis, type II Genetics


Alteration in the SLC26A2 gene is one of a variety of skeletal disorders. The main function of this gene produces protein that is important for the usual growth of cartilage and for its transformation to bone. The alteration of the gene disturbs the formation of the growing cartilage, prevents bones from forming properly and causing skeletal complications distinguishable of atelosteogenesis, type 2.


Atelosteogenesis, type II Prevalence


According to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), Atelosteogenesis, type 2 is categorized as a “rare disease”. It affects less than 200,000 individuals in the population of US.


Atelosteogenesis, type II Symptoms and Signs


The symptoms for infants who have this disorder have a tapered chest, very short legs and arms and a rounded, major abdomen. Cleft palate is also a symptom for this disorder, distinguishing facial features, clubfoot, and commonly positioned thumbs or hitchhiker thumbs. The symptoms of atelosteogenesis, type 2 are related to those of skeletal disorder referred to as distrophic dysplasia but comparing to the other skeletal disorder atelosteogenesis, type 2 is more severe.


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