Nager Syndrome

National Organization for Rare Disorders, Inc.

Skip to the navigation

It is possible that the main title of the report Nager Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Nager syndrome is a rare inherited disorder characterized by craniofacial malformations occurring in association with abnormalities of the thumb and forearm. Craniofacial malformations include underdevelopment of the cheekbones (malar hypoplasia) resulting in downward slanting palpebral fissures; incomplete development of the lower jaw (mandibular hypoplasia), causing the jaw to appear abnormally small (micrognathia); and small (microtia) and/or malformed (dysplastic) external ears (pinnae), often with a blind ending or absent external ear canals, resulting in hearing impairment (conductive hearing loss). Nager syndrome is distinguished from other forms of acrofacial dysostosis by the limb abnormalities, which are primarily on the thumb (radial) side of the hand and forearm including underdevelopment or absence of the thumbs and the radius bone in the forearm, and abnormal fusion of bones in the forearms (radioulnar synostosis). The fingers and the feet are usually normal. Intelligence is usually not affected. Nager syndrome is typically inherited as an autosomal dominant trait caused by mutations in the SF3B4 gene on chromosome 1q12-q21. Although an individual with Nager syndrome can transmit the condition to his/her children, many cases occur randomly (sporadic) as a new gene change (de novo mutation) in the family.
Nager syndrome was first described in the medical literature in 1948 by doctors Nager and De Reynier. Nager syndrome belongs to a group of disorders collectively known as acrofacial dysostoses or AFDs. These disorders are characterized by craniofacial and limb abnormalities. AFDs are generally broken down into preaxial and postaxial types. Nager syndrome is a preaxial form; the term preaxial refers to the bones of the arms and legs that are on the thumb and big toe sides of the body.

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 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:  5/20/2015
Copyright  2015 National Organization for Rare Disorders, Inc.