Congenital Thymic Aplasia and Receiving Disability
Congenital thymic aplasia is a rare congenital disease. What congenital means is that it is something that is present at birth, something that you were born with.
The severity of congenital thymic aplasia and the host of difficulties that it may bring about vary widely. Congenital thymic aplasia leads to the poor development of several of your bodys systems.
One of the bad things about congenital thymic aplasia is that there are several different medical problems that are connected with this disease. Some of these medical problems include:
A cleft palate
Poor function of your immune system
Poor function of your parathyroid glands
Pediatric endocrinologist Angelo DiGeorge was the first to describe this disease. He described it in 1968.
Congenital thymic aplasia is referred to in other ways. It is also known as Strong syndrome, thymic hypoplasia, 22q11.2 deletion syndrome, Shprintzen syndrome, velo-cardio-facial syndrome, DiGeorge syndrome and conotruncal anomaly face syndrome.
Thankfully, congenital thymic aplasia is a rare disease. It occurs in around 1 in every 4,000 live births in the United States.
As mentioned at the beginning, congenital thymic aplasia is a disease that you are born with (congenital). The disease is the result of the deletion of a part of chromosome 22. However, the cause of this deletion has not yet been discovered.
The area of chromosome 22 that is deleted is referred to as 22q11.2. Researchers think that the wide variance in the signs and symptoms that congenital thymic aplasia produces in people is a result of the amount of genetic material that is lost in the chromosomal 22 deletion.
The signs and symptoms that are the result of congenital thymic aplasia may vary greatly both in their type and in their severity. The significant thing about this is that this is true even in the case of members of the same family who are afflicted with congenital thymic aplasia.
If you are experiencing sign and symptoms of congenital thymic aplasia, you may qualify for social security disability benefits like SSI or SSDI. It is always a wise move to contact one of the experienced social security attorneys at disabilitycasereview.com to checkout the disability benefits options that are open to you. Possible signs and symptoms that you may experience with congenital thymic aplasia may involve some combination of these things:
A cleft palate (a gap in the roof of the mouth) or other problems with your palate
Spasms or twitching around your mouth, throat, hands or arms
Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in your upper lip
Poor muscle tone
Delay in the development of your speech
A bluish appearance of your skin that results from the poor circulation of oxygen-rich blood
Delays or difficulties with learning
Infections that occur frequently
Failure to thrive
Weakness or getting tired easily
Failure to gain weight
Shortness of breath
Congenital heart disease
Renal (kidney) anomalies
Hypocalcaemia (low serum calcium levels in your blood)