Ear, Patella, Short Stature SyndromeNational Organization for Rare Disorders, Inc.
Important
General DiscussionEar-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 OrganizationsBetter Hearing Institute
Birth Defect Research for Children, Inc.
Ear Anomalies Reconstructed: Atresia/Microtia Support Group
Genetic and Rare Diseases (GARD) Information Center
Human Growth Foundation
Little People of America, Inc.
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
NIH/National Institute on Deafness and Other Communication Disorders
Potentials Foundation
For a Complete ReportThis 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".
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Ear, Patella, Short Stature SyndromeNational Organization for Rare Disorders, Inc. |
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