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FG Syndrome Type 1

Abstract

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NORD is very grateful to Michael J. Lyons, MD, Assistant Clinical Geneticist, Greenwood Genetic Center, for assistance in the preparation of this report.

Synonyms of FG Syndrome Type 1

  • FGS1
  • Opitz-Kaveggia syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), intellectual disability, constipation and or anal anomalies and complete or partial absence of the part of the brain that connects the two hemispheres of the brain (corpus callosum). Other features of the disorder are small and simple ears, tall and prominent forehead, wide and flat thumbs and great toes and downslanting eyes.

FGS1 is an X-linked genetic disorder caused by a recurrent abnormality (mutation) in the MED12 gene. The spectrum of disorders caused by mutations in this gene is still being defined. Some individuals previously diagnosed with FG syndrome do not have a MED12 gene mutation and, therefore, probably have a different reason for intellectual disability.

Organizations related to FG Syndrome Type 1

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