Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ear, Patella, Short Stature Syndrome


Synonyms of Ear, Patella, Short Stature Syndrome
  • EPS
  • Meier-Gorlin Syndrome
  • Microtia, Absent Patellae, Micrognathia Syndrome

Disorder Subdivisions



    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.

    Organizations related to Ear, Patella, Short Stature Syndrome
    • Better Hearing Institute
      515 King Street, Suite 420
      Alexandria VA 22314
      Phone #: 703-684-3391
      800 #: 800-327-9355
      e-mail: mail@betterhearing.org
      Home page: http://www.betterhearing.org
    • Birth Defect Research for Children
      930 Woodcock Rd
      Orlando FL 32803
      Phone #: 407-895-0802
      800 #: --
      e-mail: staff@birthdefects.org
      Home page: http://www.birthdefects.org
    • Ear Anomalies Reconstructed: Atresia/Microtia Support Group
      72 Durand Road
      Maplewood NJ 07040
      Phone #: 973-761-5438
      800 #: --
      e-mail: atresiamicrotia-subscribe@yahoogroups.com
      Home page: N/A
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: hgf1@hgfound.org
      Home page: http://www.hgfound.org/
    • Little People of America, Inc.
      250 El Camino Real
      Tustin CA 92780
      Phone #: 714-368-3689
      800 #: 888-572-2001
      e-mail: info@lpaonline.org
      Home page: http://www.lpaonline.org
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      Bethesda MD 20892-3456
      Phone #: 301-402-0900
      800 #: 800-241-1044
      e-mail: nidcdinfo@nidcd.nih.gov
      Home page: http://www.nidcd.nih.gov
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). 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