Jeune Syndrome: Is There Any Hope?

Jeune syndrome or asphyxiating thoracic dysplasia is a disease which affects the cartilage and bones. It is a rare disease with a prevalence of 1 in 100.000 to 130.000 people. Typical signs and symptoms include small chest and short ribs which restricts expansion of the lungs. This ‘bell-shaped’ chest often cause life-threatening breathing difficulties. Moreover, other abnormalities may include shorten bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes (polydactyly). Other symptoms are high blood pressure, liver disease, pancreas disease, dental abnormalities, and eye disease. 

Jeune syndrome is inherited in an autosomal recessive manner. This means that the parents of affected person do not show signs or symptoms of the condition, but actually they brought the mutated genes (carrier). When the carrier met, each child has a 25% risk to have Jeune syndrome, a 50% risk to be a carrier like each of the parents, and a 25% chance to not have any Jeune syndrome and carrier. Mutations in several different (among 11 genes) have been identified to be correlated to this disease. 

In several cases, Jeune syndrome may be suspected before birth by ultrasound examination. However, Jeune syndrome is often suspected after birth. Recurrent breathing difficulties and skeletal deformity (especially chest deformity) found by chest X-ray strengthen the suspicion. Nevertheless, Jeune syndrome must be confirmed with genetic texting. 
The treatment of Jeune syndrome is still based on the signs and symptoms of each patient.

Most patients experience breathing difficulties. They may be getting worse as compounded by infection. In some cases, mechanical ventilation may be necessary helping them breathing. As the time goes by, surgical interventions should be considered to correct the chest deformity. The prognosis of Jeune syndrome varies significantly from patient to patient. The survival rate increases as early as the diagnosis confirmed. Based on literature, the risk of respiratory complications decreases after 2 years of age. After that, the renal involvement may become the major prognostic factor. Renal condition, hepar, pancreas, dental, and eyes should be regularly monitored to detect abnormalities as early as possible. 

References:
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=474
https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy#synonyms
https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome

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