What is Jeune Syndrome?
Jeune Syndrome which is also known by the name of asphyxiating thoracic muscular dystrophy is an extremely uncommon genetic condition which is characterized by defect in the development of the gristle and bones , especially in the pelvis , ribs , arms , and leg .
Children born with Jeune Syndrome tend to have shorter and more narrow-minded than normal rib cage which results in the lung not being able-bodied to develop amply make believe it tough for the child to inhale and exhale ordinarily . It is estimated that about 1 in 100,000 kid are affected by Jeune Syndrome in the United States .
It follows an autosomal recessive trait stand for that copies of the faulty gene are required from each parent for the kid to develop Jeune Syndrome . The lung in children with Jeune Syndrome may grow normally but they do not have enough place to grow due to the minute and short costa cage which results in problems with breathing .
This trouble with ventilation in some cases tends to improve as the child grows or may expect surgery of the rib cage so as to produce space for the lung to turn and expand unremarkably .
to boot , children with Jeune Syndrome may have problem with alimentation and may require a alimentation tube be placed . Kidney and liver disfunction are also one of the presenting features of Jeune Syndrome . Dwarfism is also one of the features of Jeune Syndrome .
What are the Causes of Jeune Syndrome?
The root cause for the growing of Jeune Syndrome is not yet known but a number of different factor are believe to be responsible for it . The mutations in genes IFT80 , DYNC2H1 , WDR19 , IFT140 and TTC21B have been identify by research worker as to be the potential faulty genes that may be responsible for the development of Jeune Syndrome .
These cistron are responsible for production of a protein found in cilia . Investigations are still on as to identify the theatrical role of cilia in the development of symptoms of Jeune Syndrome .
What are the Symptoms of Jeune Syndrome?
The classical presenting characteristic of Jeune Syndrome is a small and minute rib cage which will be understandably seeable . The rib cage is usually in the shape of a bell . Additionally , the child will have rapid breathing with very little expansion of the chest .
The tyke will also have bother breathe due to the unfitness of the lung expand fully as a effect of the modest costa batting cage which may later on lead to several lung infections . blue discoloration is also one of the classic presenting feature of Jeune Syndrome as a answer of lack of O because of the lung not being able-bodied to expand usually . nanism is yet another symptom of Jeune Syndrome with abnormally short arms and legs . In some cases surplus toes or finger’s breadth may also be present in fry with Jeune Syndrome .
Children with Jeune Syndrome often have problem rust to the point where a gastric pipe may need to be enter for nutritional purposes due to Jeune Syndrome .
How is Jeune Syndrome Diagnosed?
In certain illustration , a prenatal ultrasound scan may alert the physician that the baby to be deliver has symptom of Jeune Syndrome due to the abnormally scant and bell shaped rib cage and abnormally brusk arms and legs . put up the birth of the small fry , the follow tests may be done in ordination to confirm the diagnosis of Jeune Syndrome . Radiological work in the form of x - rays , CT and MRI scans to depend at the size and condition of the rib John Cage and of the pelvis and upper and humble extremity .
uranalysis to check off the status of kidney as to whether it is go commonly or not
Check the status of the lungs with a pulmonary function test to see whether exchange of oxygen and C di oxide is occurring normally or not .
to boot inherited testing for sport of the genes will confirmatively name Jeune Syndrome .
How is Jeune Syndrome Treated?
The discourse for Jeune Syndrome ask a multidisciplinary plan of attack for a variety of different health care providers including pediatricians , orthopedists , pulmonologists , thoracic surgery , nutritional consultation who can contrive a treatment program best suited for the child with Jeune Syndrome .
The first and the foremost matter to do in treatment for babe with Jeune Syndrome is to improve the ventilation ability of the child . For this , they may command either breathing gadget assistance in some cases or surgery in which the rib cage is expanded so that there is more way for the lungs to expand and thus the child may be able to breathe more freely .
In cases of lung infection , the child may be given antibiotics . In casing where the nipper has problems with feeding then a eating tube may need to be placed for nutritionary determination as a musical mode of discussion for Jeune Syndrome .
