FG syndrome

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FG syndrome
Kim Peek (1951–2009) probably had FG syndrome
OMIM 305450
DiseasesDB 32162

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]

Synonyms and keywords: Opitz-Kaveggia syndrome; Keller syndrome; FGS; FGS1; mental retardation, large head, imperforate anus; congenital hypotonia, and partial agenesis of the corpus callosum; OKS

Overview

FG syndrome is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays.

Historical Perspective

First reported by Opitz and Kaveggia in 1974, the name of the syndrome comes from the initials of the surnames of two sisters, who had five sons with the syndrome. The first study of the syndrome, published in 1974, established that it was linked to inheritance of the X chromosome.

A 2008 study concluded that Kim Peek, who was the basis for the Dustin Hoffman character in the movie Rain Man, probably had FG syndrome.

Pathophysiology

Genetics

  • Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. In one of these regions, a mutation in a particular gene called MED12 has been found to cause the disorder. Researchers are investigating genes in other regions of the X chromosome that may also be associated with FG syndrome.
  • The MED12 gene provides instructions for making a protein that helps regulate gene activity. Specifically, the MED12 protein forms part of a large complex (a group of proteins that work together) that turns genes on and off. The MED12 protein is thought to play an essential role in development both before and after birth.
  • Researchers have identified one mutation in the MED12 gene in several people with FG syndrome. Although the mutation alters the structure of the MED12 protein, it is unclear how this change leads to intellectual disability, behavioral changes, and the physical features associated with this condition.
Type OMIM Gene Locus
FGS1 305450 MED12 Xq13
FGS2 300321 FLNA Xq28
FGS3 300406 ? Xp22.3
FGS4 300422 CASK Xp11.4-p11.3
FGS5 300581 ? Xq22.3

Epidemiology and Demographics

The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be over diagnosed because many of its signs and symptoms are also seen with other disorders.

Natural History, Complications and Prognosis

About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection; premature death is rare after infancy.

Diagnosis

Symptoms

Physical Examination

Appearance of the Patient

Head

Eyes

Throat

  • Droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip due to hypotonia

Abdomen

Extremities

  • Broad thumbs and great toes

Neurologic

Others

Laboratory Findings

MRI

Partial or complete loss of corpus callosum

References


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