What is FG Syndrome*

Individuals who are affected by FG Syndrome, whether confirmed through DNA testing or otherwise, are known to have many similar physical, emotional, neurological, and intellectual traits, which you will find discussed in detail throughout these pages. FG Syndrome has come to represent a family of conditions, which fall generally under the following categories:

• Those who have received gene mutation confirmation through DNA testing. This group represents a very small portion of those diagnosed with FGS or related conditions. At present, only one form of FGS has DNA testing readily available, and is now often referred to as Opitz-Kaveggia Syndrome. This condition refers specifically to males with a mutation in MED12, a gene located at Xq13.
• Many other individuals are diagnosed clinically with FG Syndrome, for the commonly recognized physical and other characteristics often found in the syndrome. Research is ongoing, and further diagnostic testing options are expected in the not-too-distant future.
• Several families have learned, through new and improved micro-array testing, of chromosome mutations other than on the X-chromosome. Still other families have been given a diagnosis of “unknown origin,” yet the traits of children in both these categories are more FGS-related, and thus they remain active within our group, awaiting further scientific breakthroughs.

Individuals who are affected by FG Syndrome are known to have many similar physical, emotional, neurological, and intellectual characteristics. While there may be several different roads that lead to an FGS diagnosis, it is the symptoms and traits of the condition that bind us together and often require the most guidance and support.

Diagnosis

Opitz-Kaveggia Syndrome, or FGS1, can now be diagnosed through diagnostic testing shortly after birth. At the present time, most other forms of FG Syndrome and related conditions are diagnosed on the basis of commonly recognized physical characteristics, that may include low muscle tone, certain craniofacial anomalies and respiratory conditions. While most babies and children with FGS do very well once diagnosed and (if necessary) treated, it is important for newborn or young child suspected of having FGS to receive prompt and appropriate medical care. This is because certain traits of FGS, including respiratory concerns, may be easily treatable but dangerous, or even fatal, if unrecognized or left untreated.

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What is Opitz-Kaveggia Syndrome?

Opitz-Kaveggia Syndrome, also called FGS1, refers specifically to individuals with MED12 mutations, who are diagnosed through positive DNA testing. Drs. John Opitz and Elisabeth Kaveggia were the first to identify an X-linked genetic syndrome in the early 1970’s, which became known as FG Syndrome, after the original family diagnosed with the syndrome. Opitz-Kaveggia Syndrome affects males and is characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Individuals diagnosed with the syndrome have a recurrent mutation (2881C>T, leading to R961W) in MED12, a gene located at Xq13. More information can be found by clicking here or by contacting us.

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Cause

FG Syndrome and Opitz-Kaveggia Syndrome/FGS1 are caused by mutations on the X-Chromosome. Opitz-Kaveggia Syndrome/FGS1’s mutation occurs in MED12, a gene located at Xq13. Scientific research is ongoing and further diagnostic testing on other locations on the X-chromosome are anticipated in the not-too-distant-future. It is not known why these mutations occur. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy.

Who Gets FG Syndrome

While some forms may affect only boys, other forms of FGS and related conditions can affect both boys and girls. FGS is not known to be related to race, nationality, religion or socioeconomic status.

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Learning & Development

Children with FGS tend to vary greatly in how the condition affects their learning and development. It is important to remember that while children and adults with FGS and related conditions often experience developmental delays, and their care can be challenging, they also have many talents and gifts and should be given the opportunity and encouragement to develop them.

Early Intervention services, including occupational and physical therapies, speech/language pathology and educational interventions are often indicated. School-age children often attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program.

Children with FGS are all unique, and their success may depend on several factors, including their level of involvement with the syndrome and/or the amount and forms of intervention provided. Successful teaching often includes repetition and multi-modal methods that integrate several of the student’s senses. Each individual is different– research, trial and error and the support of others with similar experiences may be key to understanding strengths and weaknesses and what works best for a particular child.

Children with FGS often go on to graduate high school, and even participate in post-secondary education. Many are capable of working in the community, while others require more structure in their environment.

Health

Early diagnosis of FG Syndrome and related conditions is crucial. This is because while many individuals experience only minimal medical consequences, some health complications can be quite serious if left undiagnosed and unmonitored, especially in newborns and young children. These complications include respiratory, feeding and elimination, heart defects, and other concerns. See Common Symptoms & Traits for a more thorough list of possible health concerns related to FGS. Some conditions require surgery while others only require careful monitoring. Children with FGS also have a higher incidence of vision and hearing problems as well as other medical conditions. However, with appropriate medical care most children and adults with FGS can lead healthy lives. Adults with FG Syndrome who have received proper diagnosis and attention as children can anticipate the same average life expectancy as any other individual.

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History of FG Syndrome

FG Syndrome was first described in 1974 by Drs. John M. Opitz and Elisabeth G. Kaveggia as a multiple congenital anomaly/mental retardation syndrome. While FG Syndrome was originally diagnosed as rare, since the mid-1990s, clinical researchers have debated and studied the likelihood that it is more common than first suggested, manifesting in known traits that may or may not actually include intellectual disabilities. While some of the “known” traits of FG Syndrome have changed and/or researchers do not agree about all aspects of FG Syndrome, there are many common features discussed in this site. It is important to remember that a child can have the syndrome without having all of the characteristic features; in fact, it would be exceedingly rare for any one individual to have every known trait of FG Syndrome.

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*All information contained herein is for informational purposes only. Readers are encouraged to confirm the information contained herein with other sources. Readers should review the information carefully with their professional health care provider. The information is not intended to replace medical advice offered by physicians. The FG Syndrome Family Alliance, Inc. will not be liable for any direct, indirect, consequential, special, exemplary, or other damages arising herefrom.