Ear, Patella, Short Stature Syndrome
National Organization for Rare Disorders, Inc.
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.
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.
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: firstname.lastname@example.org
- Website: http://www.betterhearing.org
Birth Defect Research for Children, Inc.
- 976 Lake Baldwin Lane
- Orlando, FL 32814
- Tel: (407)895-0802
- Email: email@example.com
- 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: firstname.lastname@example.org
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: email@example.com
- 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: firstname.lastname@example.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: email@example.com
- Website: http://www.nidcd.nih.gov
- 7400 E. Caley Ave.
- Centennial, CO 80111
- Tel: (303)770-9223
- Email: firstname.lastname@example.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 email@example.com
Last Updated: 12/13/1969
Copyright 2007 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.