Atelosteogenesis, type II

Below you will find more information about Atelosteogenesis, type II from Medigest. If you believe that you are suffering from any of the symptoms of Atelosteogenesis, type II it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Atelosteogenesis, type II and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Atelosteogenesis, type II comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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.

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.

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