What is Jeune Syndrome
Synonyms: asphyxiating thoracic dysplasia, thoraco-pelvico-phalangeal dystrophy
At the Jeune Syndrome it is an autosomal recessive inherited malformation syndrome that is associated with short rib dysplasia, a narrow thorax, short extremities and other skeletal malformations.
The triggering molecular mechanisms are currently (2017) not yet fully understood. Genes involved in Jeune syndrome are:
These genes encode flagella proteins. A flagellum, for example, is partly responsible for the movement of cells. As a result, Jeune syndrome is classified as a ciliopathy.
The severity of the symptoms is variable. Bone growth can also be anywhere near normal. Typical features of Jeune syndrome are:
3.1 Rare complications
Jeune syndrome can be diagnosed prenatally using prenatal diagnostics and ultrasound or at birth. The clinical examination and the noticeable narrow thorax and possibly also the shortened extremities give clues after the birth. Further diagnostics to detect malformations and possible organ involvement:
The therapeutic approach depends on the severity of the symptoms. If breathing is severely impaired, supportive ventilation may be necessary at birth. Any respiratory infections that may occur must be treated as quickly as possible. If the children survive, lung function usually recovers as they grow.
It is also possible to carry out a sternotomy with subsequent installation of a prosthesis in order to enlarge the thorax diameter and to enable a better expansion of the lungs in the thorax.
The skeletal malformations can be corrected surgically in the course of life, if necessary. If organs are involved, further therapeutic measures may be necessary.
The prognosis varies considerably with the extent of the disease and symptoms. The increased morbidity and mortality are mainly due to respiratory complications.
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