FG syndrome: Difference between revisions
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{{Infobox Disease | {{Infobox Disease | ||
| Name = FG syndrome | | Name = FG syndrome | ||
| Image = | | Image = Peek1.jpg|100px|thumb | ||
| Caption = | | Caption = [[Kim Peek]] (1951–2009) probably had FG syndrome | ||
| DiseasesDB = 32162 | | DiseasesDB = 32162 | ||
| ICD10 = | | ICD10 = | ||
| Line 21: | Line 21: | ||
{{CMG}}; {{AE}} {{KD}} | {{CMG}}; {{AE}} {{KD}} | ||
{{SK}} Opitz-Kaveggia syndrome; Keller syndrome; FGS; FGS1; mental retardation | {{SK}} Opitz-Kaveggia syndrome; Keller syndrome; FGS; FGS1; mental retardation, large head, imperforate anus; congenital hypotonia, and partial agenesis of the corpus callosum; OKS | ||
==Overview== | ==Overview== | ||
'''FG syndrome''' is a rare genetic syndrome linked to the [[X chromosome]] and causing physical anomalies and developmental | '''FG syndrome''' is a rare genetic syndrome linked to the [[X chromosome]] and causing physical anomalies and [[developmental delay]]s. | ||
==Historical Perspective== | ==Historical Perspective== | ||
First reported by Opitz and Kaveggia in 1974, | 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. | 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== | ==Pathophysiology== | ||
===Genetics=== | ===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. | * 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. | * 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. | * 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. | ||
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==Epidemiology and Demographics== | ==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 | 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== | ==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. | 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== | ==Diagnosis== | ||
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* [[Macrocephaly]] | * [[Macrocephaly]] | ||
* | * Prominent forehead | ||
====Eyes==== | ====Eyes==== | ||
* [[Hypertelorism]] | * [[Hypertelorism]] | ||
* | * Down-slanting palpebral fissures | ||
====Throat==== | ====Throat==== | ||
* Droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip due to [[hypotonia]] | * Droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip due to [[hypotonia]] | ||
====Abdomen==== | ====Abdomen==== | ||
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* [[Imperforate anus]] may be present | * [[Imperforate anus]] may be present | ||
* [[Undescended testes]] ([[cryptorchidism]]) | * [[Undescended testes]] ([[cryptorchidism]]) | ||
===Laboratory Findings=== | |||
====MRI==== | |||
Partial or complete loss of [[corpus callosum]] | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category: | [[Category:Pediatrics]] | ||
[[es:Síndrome FG]] | [[es:Síndrome FG]] | ||
[[fr:Syndrome FG]] | [[fr:Syndrome FG]] | ||
Latest revision as of 19:28, 3 August 2012
| FG syndrome | |
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| Kim Peek (1951–2009) probably had FG syndrome | |
| OMIM | 305450 |
| DiseasesDB | 32162 |
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WikiDoc Resources for FG syndrome |
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Most recent articles on FG syndrome Most cited articles on FG syndrome |
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Powerpoint slides on FG syndrome |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on FG syndrome at Clinical Trials.gov Clinical Trials on FG syndrome at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on FG syndrome
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Patient resources on FG syndrome Discussion groups on FG syndrome Patient Handouts on FG syndrome Directions to Hospitals Treating FG syndrome Risk calculators and risk factors for FG syndrome
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Healthcare Provider Resources |
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Causes & Risk Factors for FG syndrome |
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Continuing Medical Education (CME) |
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International |
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Experimental / Informatics |
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
- Mental retardation usually severe;
- Hyperactive behavior, often with an outgoing personality;
- Severe constipation
- Seizures
Physical Examination
Appearance of the Patient
Head
- Macrocephaly
- Prominent forehead
Eyes
- Hypertelorism
- Down-slanting palpebral fissures
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
- Severe hypotonia
Others
- Imperforate anus may be present
- Undescended testes (cryptorchidism)
Laboratory Findings
MRI
Partial or complete loss of corpus callosum