Nager Syndrome lifespan – A rare Congenital Disease

Nager Syndrome lifespan – A rare Congenital Disease

Nager Syndrome is a rare disease that affects face, hands and arms. This disease have described in year 1948 by Doctor Nager and his colleague Doctor Reynier. The malformations causes because of the first and second branchial arches and limb buds development disorder. This syndrome is the most common acrofacial malformation syndrome also.

Nager Syndrome genetics:

Most cases, developed with fresh mutations. With it, autosomal dominant and autosomal recessive forms have reported also. Nager syndrome incidence is 1-2 of 1,000,000 newborns. The genetic defect is most common by %60 rate on SF3B4 gene that is localised in 1’th chromosome. But in some cases this defective gene does not exist. In some patients the genetic defects may not identified also.

Nager Syndrome symptoms and findings:

  • Severe micrognathia that cause to restricted jaw mobility have reported. The hypoplastic mandible causes to abnormal tongue posture.
  • Bilateral or unilateral preaxial limb defects may seen. With it, hypoplasia of the thumb is common in this disease.
  • The absence or malformations of soft palate impairs the speech production.
  • Even if there are normal auricles and open external auditory canals, the ossicular chain have often malformed and a conductive hearing loss is present. For this reason, auditory stimulation and learning have reduced because of hearing loss.
  • Because of life-threatening breathing problems, surgical traceotomy may follow to unsuccessful tongue tethering. Tracheostomies preclude normal vocal play that impairs the speech production also.
  • To fix the tongue and lip stance, some surgical process should necessary. With it, tongue and lip sutures prevent normal sucking behavior.
  • Some of this patient may not feeded normaly and gavage feeding and gastrostomy tubes may necessary. This materials may prevent the normal oralmotor development through prespeech feeding activities also.
  • Nasal pathway obstruction, and other structural abnormalities have reported also.

Nager Syndrome treatment:

Oral language stimulation should be trained from infancy. Nutritional training may required also. To the patients that not need feeding tubes, maximum sucking and chewing experience training may helpful. The parents that have feeding tubes patients, must trained to have tube feed experience. For hearing problem, bone conduction devices may helpful in selected cases. Because most children with Nager syndrome have normal cognitive abilities. For this reason, it have importance that their skills will highlighted. Psychiatric findings like depression can seen in these patients at later ages. For this reason, psychiatric support is important in the presence of a psychologist if necessary.

Nager Syndrome patients lifespan:

After nutrition and breathing problems corrected in infancy, most patients are healthy and they will have a normal lifespan.

 

To read about Canavan Disease click this link

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1 Comment

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