Read about acrofacial dysostosis, nager type medical facts: what is the definition of acrofacial dysostosis, nager type, what are the signs and symptoms, medical treatment & how to treat acrofacial dysostosis, nager type, information about the causes, prevalence, and related acrofacial dysostosis, nager type diseases.

Definition: What is "Acrofacial dysostosis, Nager type"?


Acrofacial dysostosis, nager type definition: Acrofacial dysostosis or Nager syndrome is a term that was coined by Nager & DeReynier in 1948. This condition is described as a syndrome which involves the upper limbs & skull. The most ordinary type of acrofacial dysostosis is the Nager Type (NAFD) of the so-called pre-axial acrofacial dysostosis. Generally, the effects of Nager type acrofacial dysostosis are palpebral fissures that are down-slanted; micrognathia; coloboma of the lower eyelids; & absent or hypoplastic radii or thumbs.

Symptoms & Signs

The most major symptoms of Nager syndrome often include the underdevelopment of the jaw & cheek areas; a jaw that may appear smaller than the usual or normal jaw; the absence or lack of eyelashes; hearing problems (and some defects on the external or internal ear area); cleft palate (which is a congenital defect of the mouth or the lip); the absence or underdevelopment of the thumb or thumbs; forearms that appear short (the forearms could altogether be absent of the radius bone); the bones of the forearms could also fuse; poor elbow movements (or limited extension of this body part); ears that appear to be backwards rotated; the ears could also manifest some skin tags (or it could be low-set); & feeding & breathing problems (most especially among infants who are afflicted with this syndrome). Other patients show difficulty in speech articulation; underdeveloped bones of the cheeks; the bridge of the nose appears to be high; the eyelids appear down-slanted; & conductive deafness (any loss of hearing or impairment that is caused by a certain defect in the ear which conducts sound). More severe symptoms of Nager type acrofacial dysostosis are: the early delivery of an infant (the fetus is younger than 37 weeks) or premature birth; & respiratory problems.

Treatment: How to Treat "Acrofacial dysostosis, Nager type"?

The treatment is totally dependent on what symptoms manifest. If the patient suffers from speech retardation, then it is a speech therapist that could help the patient. Physicians who specialize in ear problems can also help. They may not totally cure the condition but they can help in managing the symptoms.


This disorder is often sporadic although it, too, can be inherited. Some studies have shown that the gene which causes the illness might be located around 9q32 & it is possible that the ZFP-37 gene could also be involved.


This disorder is categorized by the Office of Rare Diseases in the United States as a rare illness, thus, it has only affected less than 200,000 of the country's population.

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