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Ear, Patella, Short Stature Syndrome

Abstract

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Synonyms of Ear, Patella, Short Stature Syndrome

  • EPS
  • Meier-Gorlin Syndrome
  • Microtia, Absent Patellae, Micrognathia Syndrome

Disorder Subdivisions

  • No subdivisions found.

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

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., ear abnormalities, short stature, skeletal malformations, etc.].)

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