Jeune Syndrome causes a variety of symptoms in several organ systems. The list below gives a rough guide to what to expect and look out for.
Please be aware however, that although some people with Jeune Syndrome might have all of these difficulties, many of them have only a few.
Please present this information to your General Practitioner who may never have even heard of Jeune Syndrome before.
This information can be found online at https://www.jeunes.org.uk/common-signs-and-symptoms/
This information was taken from Richard Pauli MD 2009.
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Small stature has been reported but not normally severe. There is considerable variability but some people with Jeune Syndrome may reach normal range of stature.
No intervention needed.
Around 75% of people with Jeune Syndrome have severe, restrictive pulmonary disease, secondary to a constricted chest causing pulmonary hypoplasia. However some people with Jeune Syndrome have only mild or minimal respiratory difficulty. In those that do not have life threatening problems in infancy, pulmonological problems are not progressive and should cause no subsequent problems. Affected individuals usually “grow out” of respiratory problems after the age of 2 years.
Early comprehensive pulmonologic assessment is critical. Pulmonary function tests should be carried out between 6-7 years and then every 3-4 years until maturity.
If restrictive lung disease is severe, then intubated ventilatory support or tracheostomy may be needed. Chest expansion surgery for the most severe cases can be considered.
Up to 30% will develop renal abnormalities, most often cystic dysplasia or nephronophthisis. Frequency might depend on which gene is defective. Usually this is recognised in later childhood.
Creatinine, BUN (blood urea nitrogen), urinalysis and renal ultrasound at time of diagnosis. Yearly creatinine, BUN and urinalysis thereafter.
Referral to a nephrologist for assessment. Renal transplantation is an option for the most severe cases.
Only a small proportion develop hepatic problems, which include dysgenesis, cirrhosis or fibrosis.
Complete blood tests including direct and indirect bilirubin and liver enzymes yearly.
If liver problems are apparent ursodeoxycholic acid treatment has been effective.
Retinal disease including rod cone dystrophy and retintis pigmentosa has been observed in Jeune patients. Frequency might depend on the underlying genetic defect as observed for renal disease. Can occur as early as 5 years of age and may initially lead to night blindness and/or tunnel vision.
Opthalmologic assessment at time of diagnosis and then every three years thereafter. Electroretinography should be completed at around 6-7 years of age.
If retinal disease is found, various adaptions, education modifications and involvement of low vision specialists will be needed.
Although infrequent, this has been found to occur.