Ear, Patella, Short Stature Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Ear, Patella, Short Stature 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.


  • EPS
  • Meier-Gorlin Syndrome
  • Microtia, Absent Patellae, Micrognathia Syndrome

Disorder Subdivisions

  • None

General Discussion

Ear-patella-short stature syndrome (EPS), also known as Meier-Gorlin syndrome, is a rare genetic disorder characterized by small ears (microtia), absent or small knee caps (patellae), and short stature. Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. In addition, characteristic features of the head and face may be present including a small mouth (microstomia), with full lips, small circumference of the head (microcephaly), and/or underdevelopment (hypoplasia) of the upper (maxillary) and/or lower (mandibular) jaw bones (micrognathia). EPS is thought to be inherited as an autosomal recessive genetic disorder.

Supporting Organizations

Better Hearing Institute

1444 I Street NW
Suite 700
Washington, DC 20005
United States
Tel: (202)449-1100
Fax: (703)684-6048
Tel: (800)327-9355
Email: mail@betterhearing.org
Website: http://www.betterhearing.org

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane
Orlando, FL 32814
Tel: (407)895-0802
Email: staff@birthdefects.org
Website: http://www.birthdefects.org

Ear Anomalies Reconstructed: Atresia/Microtia Support Group

72 Durand Road
Maplewood, NJ 7040
Tel: (973)761-5438
Fax: (973)378-8930
Email: atresiamicrotia-subscribe@yahoogroups.com

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
Website: http://rarediseases.info.nih.gov/GARD/

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

Little People of America, Inc.

250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Website: http://www.lpaonline.org/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

NIH/National Institute on Deafness and Other Communication Disorders

31 Center Drive, MSC 2320
Communication Avenue
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

Potentials Foundation

7400 E. Caley Ave.
Centennial, CO 80111
Tel: (303)770-9223
Email: info@potentialsfoundation.org
Website: http://www.potentialsfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  12/13/1969
Copyright  2007 National Organization for Rare Disorders, Inc.