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Miller Syndrome and Nager Syndrome
Thursday, 09 September 2004
Thursday, 09 September 2004
Postaxial Acrofacial Dysostosis and Preaxial Acrofacial Dysostosis


Both Miller and Nager syndromes are rare genetic conditions that are characterized by face, arm and leg abnormalities. The defects found with these disorders result from problems with development of the structures that play a role in the formation of the face, ears and neck. The structures involved are named the first and second pharyngeal arches. This error in development is likely to occur early during the first trimester of pregnancy. These conditions are very similar and are often linked together under the name acrofacial dysostosis. The most significant difference between these syndromes is which finger is missing. Miller syndrome is also referred to as postaxial acrofacial dysostosis; the term postaxial refers to a missing fifth finger. Nager syndrome is also referred to as preaxial acrofacial dysostosis; the term preaxial refers to a missing thumb.


Both Miller and Nager syndromes affect males and females in equal numbers and seem to affect all ethnic groups. It is not known exactly how often these disorders occur, but both are very rare.

Signs and Symptoms

Common signs and symptoms found in children with these disorders include;

  • Facial abnormalities: underdeveloped cheek bones (malar hypoplasia), small lower jaw (micrognathia), droopy lower eyelids possibly with missing tissue (coloboma), downward slanting eyelids, lack of eyelashes
  • Limb abnormalities: missing digits, webbing of fingers and/or toes (syndactyly), underdevelopment of bones of the forearm (radius and ulna) so that forearms appear short. These problems may lead to limited range of motion at the elbow and other joints.
  • Cleft palate, sometimes cleft lip
  • Small, protruding “cup-shaped” ears Occasional problems include:
  • Hearing problems
  • Heart defects
  • Hair growing on sides of the face which may look like elongated sideburns

Possible Causes

Both conditions are hereditary. Miller syndrome is thought to be inherited in an autosomal recessive fashion. Nager syndrome is believed to be inherited in an autosomal dominant manner. We have two copies of each gene; one from each parent. Autosomal recessive disorders result when an affected child inherits two altered copies of the gene causing the syndrome, one from each parent. Individuals with one altered copy and one normal copy of the gene do not have the disease, but are called carriers. With autosomal dominant disorders only one gene needs to have a change for the disease to occur.


Both Miller and Nager syndromes are most commonly diagnosed at birth based on characteristic findings on physical exam. Imaging studies, such as X-rays, may be done to evaluate for other signs that cannot be found on physical examination. A thorough evaluation of other systems, especially cardiovascular and hearing, is also often done.


Early recognition of the problems associated with these syndromes is important in the care of children affected with these disorders. Many children experience breathing problems at birth because of the malformations of the jaw and neck region and may require intervention to correct this. For the same reasons, these children may have difficulty feeding and may require surgery to insert a feeding tube. Other symptoms, such as cleft palate or lip, may require plastic surgery. Plastic surgery at later times may also be useful in correcting other malformations of the face or hands. Physical therapy can be useful in expanding the range of motion of the arms or legs. Hearing problems, if present, will also need to be corrected, if possible. Children have normal intelligence so they will not usually need special education in school, however, psychological support is helpful to cope with the physical abnormalities.


Since these conditions are very rare, there is very little information about the prognosis of these patients. However, if any problems present in the newborn period are overcome, the prognosis is usually good. There are many support services available for children with Miller and Nager syndromes that will allow them to live happy and productive lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Foundation for Nager and Miller Syndromes
Site includes information about the syndromes, as well as a bulletin board for parents to share experiences. F

ACES: The National Craniofacial Association
Site provides information about the conditions, a list of craniofacial teams across the country, and some resources for dealing with financial issues.

Forward Face
The site has a lot of information about specific craniofacial defects. There is a variety of services, such as family support and networking, social events, a newsletter and possible financial assistance. Also, there are book reviews, including children’s books that deal with possible social situations.

Children’s Craniofacial Association
Source of information, as well as possible financial assistance (ever for those who have insurance).

Helping Hands
Site provides support and information to families of children with upper limb differences. Limb Differences Site provides support and information for families of kids with limb differences. There is an extensive links list, and a very active discussion board.

Development of Branchial Arches
Information about embryologic development pertaining to pharyngeal arches. Some technical language is used, but there are good figures and table.

Google Search for Miller Syndrome and Nager Syndrome

References and Sources

Miller Syndrome BC Health Guide Online: Miller Syndrome Nager Syndrome OMIM: Acrofacial Dysostosis, Nager Type Nager Syndrome Nager Syndrome BC Health Guide Online: Nager Syndrome Moore KL, Persaud TVN (1998). The Developing Human: Clinically Oriented Embryology, 6th Ed. Philadelphia, PA: W.B. Saunders Company.