Miller Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Miller Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.



Disorder Subdivisions

  • None

General Discussion

Miller Syndrome, also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive craniofacial malformations occurring in association with abnormalities of the outer aspects of the forearms and lower legs (postaxial limb deficiency). Craniofacial malformations may include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue from (colobomas) and/or drooping of the lower eyelids, exposing the conjunctivae, the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (ectropion). In infants and children with Miller Syndrome, limb abnormalities may include incomplete development (hypoplasia), webbing (syndactyly), and/or absence of certain fingers and/or toes (e.g., the fifth digits and, in some cases, the fourth and third digits) and/or underdevelopment (hypoplasia) of the bones on the "pinky" side (ulna) and, in some cases, the thumb side of the forearms (radius), causing the forearms to appear unusually short. Additional physical abnormalities may be present in some cases. Miller Syndrome is thought to be inherited as an autosomal recessive genetic trait.


Miller Syndrome is characterized by a lack of development of the lower jaw sometimes with clefting of the soft palate or lip. There is a lack of development of the long bones in the arms and legs causing a shortening of those limbs. The nose may be very broad at the base.

There may be missing, webbed or incompletely formed fingers or toes. Downward slanting of the eyelids and incomplete development (coloboma) of the lower eyelid may result in chronic eye infections. The ears may be cupped forward and be lower on the head than normal. Some deformities may cause breathing and swallowing difficulties in the newborn making insertion of breathing and feeding tubes necessary.

Occasionally, there may be other problems such as heart defects, the backward flow of stomach or kidney contents, extra nipples, problems with joints in the arms, legs and hips, undescended testicles and hearing loss.


Miller Syndrome is thought to be caused by autosomal recessive inheritance. However, the exact mode of transmission is still under investigation. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal. The risk is the same for each pregnancy.

Affected Populations

Miller Syndrome is a rare disorder that affects males slightly more often than females in the number of cases reported so far.

Standard Therapies

Treatment of Miller Syndrome may consist of surgery to insert breathing and feeding tubes in infants who are unable to breath or eat due to deformities of the palate or jaw. Tubes may also need to be inserted into the ears. There may be a need for multiple plastic surgeries to correct eye and jaw defects. Physical therapy is necessary for aid in walking and using hands. Surgery and speech therapy is often necessary when cleft palate or lip is present.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

A group at Johns Hopkins Medical School are in the midst of a research project designed to isolate and identify the gene for this disorder. Persons willing to submit blood samples in support of this fundamental goal, may contact:

Ethlyn Wang Jabs, MD

Director, Center for Craniofacial Development and Disorders

Institute of Genetic Medicine

Johns Hopkins University School of Medicine

Tel: 410-955-4160


Other scientists are studying various surgical methods to improve the appearance of patients with craniofacial and other birth defects affecting the head, eyes, and jaw.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



Jones KL., ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Co: 1997: 256-57.


Preis S, Raymakers-Buntinx I, Majewski F. Acrofacial dysostosis of an unknown type: nosology of the acrofacial dysostoses. Am J Med Genet. 1995;56:155-60.


Rotten D, Levaillant JM, Martinez H, et al. The fetal mandible; a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. Ultrasound Obstet Gynecol. 2002;19:122-30.

Howard TD, Guttmacher AE, McKinnon W, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to the chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. 1997;61:1405-12.

Neumann L, Pelz J. A new observation of two cases of acrofacial dysostosis type Genee-Wiedmann in a family - remarks on the mode of inheritance: report on two sibs. Am J Med Genet. 1996;64:556-62.

Madeira A, Donnai D. Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects. Clin Dysmorphol. 1994;3:171-74.

Chrzanowska K, Fryns JP. Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance. Clin Genet. 1993;43:270.

Chrzanowska K, Fryns JP. Miller postaxial acrofacial dysostosis. The phenotypic changes with age. Genet Couns. 1993;4:131-33.


McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 263750; Last Update: 3/12/94.


Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240


Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643



FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373



Foundation for Nager and Miller Syndromes

13210 SE 342nd Street

Auburn, WA 98092


Fax: (253)288-7679

Tel: (800)507-3667



American Society for Deaf Children

800 Florida Avenue NE


Washington, DC 20002-3695

Tel: (866)895-4206

Fax: (410)795-0965

Tel: (800)942-2732



Aniridia Network UK

22 Cornish House

Adelaide Lane

Sheffield, S3 8BJ

United Kingdom

Tel: 4407792867949



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see