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.
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
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Birth Defect Research for Children, Inc.
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Genetic and Rare Diseases (GARD) Information Center
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Human Growth Foundation
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Little People of America, Inc.
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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NIH/National Institute on Deafness and Other Communication Disorders
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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.
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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: 4/6/2007
Copyright 2007 National Organization for Rare Disorders, Inc.
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