THE Nager syndrome is revealed from the birth of the infant, it can even be deity upstream, during pregnancy, because it modifies the physical aspect of the fetus. It is visible because it directly affects the evolution of the skull. It is said to cause “craniofacial dysostosis”, i.e. it causes a deformity”skull and facial bones resulting in premature closure of cranial sutures, and hypoplasia (insufficient development) of the facial bone“, explains theNational Academy of Medicine.
How does Nager syndrome manifest?
Concretely, children with Nager syndrome (NAFD) have a skull that is too small, which leads to a whole host of other problems such as an abnormally narrow jaw. They may also have a malformation in the outer ear. Finally, they may show drooping of the upper eyelid, a cleft palate (the palace is not closed) or malformations in the airways (choanal atresia).
According to Orphanetit is also possible that they are born with pre-axial anomalies of the limbs, and in particular an absence of the thumb (which is a characteristic sign of this syndrome).
How is the NAFD explained, where does it come from?
This syndrome is extremely rare because it has only been reported in the scientific literature a hundred times. We can’t even say what’s causing it 100%, because as Orphanet reports, “in approximately 50% of patients, NAFD is associated with heterozygous mutations in the gene SF3B4 (1q21.2), encoding a component of the splice complex“. That said, the research reported by EM Consult also point to this same genetic mutation. This syndrome can be transmitted if a parent is affected: the risk of recurrence is 50%, the researchers estimate.
How is the disease managed?
There is no no treatment to cure this syndrome, which is linked to a permanent genetic mutation. But we can treat the manifestations it causes. If the child suffers from respiratory distress because of the malformation of his airways, a tracheostomy can be done. If the cleft palate prevents him from eating properly, a gastrostomy can be performed, before repairing the clefts and other dysfunctions of the mandible. Each disorder is managed independently to gradually improve the patient’s quality of life.
If the list of the consequences of this syndrome is important, Orphanet nevertheless underlines: “After childhood, most patients are healthy and are likely to have a normal life expectancy“.
Sources: Orphanet, EM Consulte, National Academy of Medicine
