Learn About FG Syndrome

What is the definition of FG Syndrome?
FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. FG represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Genetic changes in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.
What are the alternative names for FG Syndrome?
  • FG syndrome
  • FGS
  • FGS1
  • Keller syndrome
  • Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
  • Opitz-Kaveggia syndrome
Who are the top FG Syndrome Local Doctors?
Advanced in FG Syndrome
Medical Genetics | Pediatrics
Advanced in FG Syndrome
Medical Genetics | Pediatrics

Florida Hospital Medical Group Inc

2600 Westhall Ln, 
Maitland, FL 
Languages Spoken:
English, Japanese
Accepting New Patients
Offers Telehealth

Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Advanced provider by MediFind in the treatment of FG Syndrome. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

Distinguished in FG Syndrome
Distinguished in FG Syndrome
Tours, FR 

Annick Toutain practices in Tours, France. Ms. Toutain is rated as a Distinguished expert by MediFind in the treatment of FG Syndrome. Her top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), and Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1).

 
 
 
 
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Distinguished in FG Syndrome
Distinguished in FG Syndrome
Berlin, BE, DE 

Vera Kalscheuer practices in Berlin, Germany. Ms. Kalscheuer is rated as a Distinguished expert by MediFind in the treatment of FG Syndrome. Her top areas of expertise are FG Syndrome, Early Infantile Epileptic Encephalopathy, Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius, and Kuster Syndrome.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center