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.

Disorder Subdivisions

  • None

General Discussion

Miller syndrome, also known as postaxial acrofacial dysostosis, is a rare genetic disorder characterized by craniofacial malformations occurring along with abnormalities of the arms, hands and/or feet. Craniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small lower jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue (colobomas) from the lower eyelids. Limb abnormalities may include incomplete development, webbing (syndactyly), and/or closure or absence of certain fingers and/or toes; and/or improper development and/or abnormal fusion of bones in the forearms (radioulnar synostosis), causing the forearms to appear unusually short. Additional physical abnormalities can occur in some cases. Intelligence is not affected. Miller syndrome is inherited as an autosomal recessive trait caused by mutations in the DHODH gene.

Miller syndrome was first described in the medical field between 1969 and 1979 through several independent reports. The disorder is refereed by several names derived from some of the physicians who first reported the disorder including M. Miller, H.R. Wiedemann, and E. Genee. Some researchers believe that Miller syndrome represents a distinct entity under the broader term of "postaxial acrofacial dysostosis," which would include other disorders with similar and overlapping craniofacial and limb abnormalities, but ultimately distinct symptoms.

Supporting Organizations


PO Box 751112
Las Vegas, NV 89136
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209

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

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643

Cleft Lip and Palate Association

Green Man Tower First Floor
332B Goswell Road
London, EC1V 7LQ
United Kingdom
Tel: 2078334883
Fax: 2078335999

Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335

Craniofacial Foundation of America

975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223

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

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

Let's Face It

University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
Tel: (360)676-7325

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  6/9/2015
Copyright  2015 National Organization for Rare Disorders, Inc.