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Ear, Patella, Short Stature Syndrome
National Organization for Rare Disorders, Inc.
- Meier-Gorlin Syndrome
- Microtia, Absent Patellae, Micrognathia Syndrome
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.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Little People of America, Inc.
250 El Camino Real
Tustin, CA 92780
Better Hearing Institute
1444 I Street NW
Washington, D.C. 20005
Ear Anomalies Reconstructed: Atresia/Microtia Support Group
72 Durand Road
Maplewood, NJ 07040
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Communication Avenue. Bethesda, MD 20892-3456
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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 myCigna.com. 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 http://www.rarediseases.org/search/rdblist.html.
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 firstname.lastname@example.org
Last Updated: 4/6/2007
Copyright 1996, 1997, 2001, 2002, 2004, 2007 National Organization for Rare Disorders, Inc.