National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Miller Syndrome is not the name you expected.
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.
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- Las Vegas, NV 89136
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American Society for Deaf Children
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- Washington, DC 20002-3695
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- Fax: (410)795-0965
- Tel: (800)942-2732
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- Website: http://www.deafchildren.org
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- Tel: (214)570-9099
- Fax: (214)570-8811
- Tel: (800)535-3643
- Email: contactCCA@ccakids.com
- Website: http://www.ccakids.com
Cleft Lip and Palate Association
- Green Man Tower First Floor
- 332B Goswell Road
- London, EC1V 7LQ
- United Kingdom
- Tel: 2078334883
- Fax: 2078335999
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- Website: http://www.clapa.com
Cleft Lip and Palate Foundation of Smiles
- 2044 Michael Ave SW
- Wyoming, MI 49509
- Tel: (616)329-1335
- Email: Rachelmancuso09@comcast.net
- Website: http://www.cleftsmile.org
Craniofacial Foundation of America
- 975 East Third Street
- Chattanooga, TN 37403
- Tel: (423)778-9176
- Fax: (423)778-8172
- Tel: (800)418-3223
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- Website: http://www.craniofacialfoundation.org/www
FACES: The National Craniofacial Association
- PO Box 11082
- Chattanooga, TN 37401
- Tel: (423)266-1632
- Fax: (423)267-3124
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- Website: http://www.faces-cranio.org
Foundation for Nager and Miller Syndromes
- 13210 SE 342nd Street
- Auburn, WA 98092
- Fax: (253)288-7679
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- Website: http://www.fnms.net
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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- Website: http://rarediseases.info.nih.gov/GARD/
Let's Face It
- University of Michigan, School of Dentistry / Dentistry Library
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- Ann Arbor, MI 48109-1078
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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 www.rarediseases.org 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.
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