Bhaskar–Jagannathan Syndrome
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Bhaskar–Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it. Similar or related medical conditions are
arachnodactyly Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...
,
aminoaciduria Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of the blood, and the renal tubules then reabsorb over 95% of the filtered amino acids back into t ...
,
congenital A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
cataract A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble w ...
s,
cerebellar ataxia Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms ...
, and delayed
developmental milestones Child development stages are the theoretical milestones of child development, some of which are asserted in nativist theories. This article discusses the most widely accepted developmental stages in children. There exists a wide variation i ...
.


Signs and symptoms

Bhaskar–Jagannathan has symptoms such as long fingers, thin fingers, poor balance, incoordination, high levels of amino acids in urine, cataracts during infancy, and ataxia. Ataxia, which is a neurological sign and symptom made up of gross incoordination of muscle movements and is a specific clinical manifestation


Cause


Diagnose

There are three different ways to diagnose Bhaskar–Jagannathan. This disorder may be diagnosed by a urine test, a blood test, and an
X-ray An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10  picometers to 10  nanometers, corresponding to frequencies in the range 30&nb ...
of the eyes or other body parts.


Treatment

Treatment for this rare genetic disorder can be
physical therapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...
, there have been
antibiotics An antibiotic is a type of antimicrobial substance active against bacteria. It is the most important type of antibacterial agent for fighting bacterial infections, and antibiotic medications are widely used in the treatment and prevention o ...
found to be effective, and surgery has been found to be another solution. Bhaskar Jagannathan syndrome . RD - Right Diagnosis, 1 Feb. 2012. Web. 5 Apr. 2012. http://www.rightdiagnosis.com/b/bhaskar_jagannathan_syndrome/intro.htm#whatis


References

Congenital disorders Genetic disorders with no OMIM Rare syndromes Syndromes affecting the nervous system Syndromes affecting the eye {{congenital-malformation-stub