Acrofacial dysostosis, Nager type

Below you will find more information about Acrofacial dysostosis, Nager type from Medigest. If you believe that you are suffering from any of the symptoms of Acrofacial dysostosis, Nager type it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Acrofacial dysostosis, Nager type and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Acrofacial dysostosis, Nager type comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Acrofacial dysostosis or Nager syndrome is a term that was coined by Nager and DeReynier in 1948. This condition is described as a syndrome which involves the upper limbs and 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; and absent or hypoplastic radii or thumbs.


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.


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.

Symptoms and Signs

The most major symptoms of Nager syndrome often include the underdevelopment of the jaw and 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); and feeding and 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; and 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; and respiratory problems.


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 and it is possible that the ZFP-37 gene could also be involved.

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