Numerous aetiological associations have been reported in the literature, including various haematological malignancies and drugs. Fg syndrome type 1 nord national organization for rare. Fg syndrome 1 fg syndrome 2 fg syndrome 3 fg syndrome 4 fg syndrome 5. For a phenotypic description and a discussion of genetic heterogeneity of fg syndrome, see fgs1. Fg syndrome genetic and rare diseases information center. If you have problems viewing pdf files, download the latest version of adobe reader. Fg syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. Approximately % of individuals have intellectual disability id, which is. Treatment the symptoms of fgs1 syndrome are treated individually.
We summarized data from previous reports and compared them with our data. Fg syndrome, an xlinked multiple congenital anomaly. The phenotypic spectrum of med12related disorders, which is still being defined, includes at a minimum the phenotypes of fg syndrome type 1 fgs1, lujan syndrome ls, and xlinked ohdo syndrome. Behavior of 10 patients with fg syndrome opitzkaveggia. Handbook of genetic counselingfg syndrome wikibooks. For medicare advantage aortic dysfunction or dilation e. Aortic dilatation is defined by a diameter larger than 110% of reference value determined by age, sex, and body surface area. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention. Fg syndrome type 1 fgs1 is an xlinked genetic disorder that is characterized by poor. Fg syndrome, opitzkaveggia syndrome, multiple congenital anomalies, congenital hypotonia, megalencephaly. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. The name fg derives from the first description of the disorder fgs1. Gen genetic test national database for autism research.
Nos, asperger syndrome, and autistic disorder classic autism are the most common. Alterations or mutations of these genes leads to disorders that are termed x. The med12 related disorders are fg syndrome, lujan syndrome and the xlinked recessive form of ohdo syndrome. Fetal alcohol syndrome centers for disease control. R961w mutation to illustrate how their behavior changes with age. The framework was developed to provide an overview of the entire identification, referral, diagnosis, and treatment process. Fg syndrome family alliance genetic and rare diseases. At the moment fgs1 socalled opitzkaveggia syndrome is defined on the basis of the phenotype of the original fg family 3 x 3 opitz, j. Fg syndrome, initially considered a rare, completely recessive xlinked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the gbbb opitz syndrome.
Spectrum of xlinked hydrocephalus hsas, masa syndrome. Enable javascript to view the expandcollapse boxes. Pubmed is a searchable database of medical literature and lists journal articles that discuss fg syndrome. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for fg syndrome. Familial nonsyndromic taad may be due to a pathogenic variant in one of the same genes that cause marfan syndrome and lds, or in one of a number of other genes, including acta2 17, lox 18,19, mat2a 20, mfap5 21, myh11 22, mylk 23, prkg1 24. We suggest that the sporadic cases, but not the familiar cases, likely had fg syndrome because they do not meet the criteria for megalocornea.
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. Fg syndrome is a rare genetic syndrome caused by one or more recessive genes located on the x chromosome and causing physical anomalies and developmental delays. Sweet syndrome is a rare disorder that is manifested by constellation of clinical features, including fever, neutrophilic leucocytosis, raised painful plaques on skin and dermal infiltration by neutrophils. Fg syndrome omim 305450 is an xlinked condition comprising mental retardation, congenital hypotonia, constipation or anal malformations, and a distinctive appearance with disproportionately.
Absence agenesis or malformation of the tissue connecting the left and right halves of the brain corpus callosum also. Previous work has demonstrated the range of anomalies seen in fg syndrome, but no single study has presented all of. Fgs1 is further characterized by absolute or relative macrocephaly, tall. Genetic testing for marfan syndrome, thoracic aortic. Surviving males had congenital hypotonia with constipation, and during early childhood they were friendly, inquisitive, and hyperactive with a very short attention span. Fg syndrome is an xlinked, recessive, multiple congenital anomaly described originally by opitz and kaveggia in 1974. Keller ma, jones kl, nyhan wl, francke u, dixson b.
The oldest patient case 3 in our report with moderate mental retardation. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Fg syndrome was named after the first letters of the surnames of the first patients noted with the disease. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Although the phenotype is not completely typical of the fg syndrome and the coincidence of the fmr1 mutation and segregation of the mcamr phenotype are highly unlikely, the fmr1 mutation may affect morphogenesis more extensively and differently than the martinbell syndrome does to effect an fg syndromelike phenotype in certain families. The x chromosome carries around 2000 genes and makes up about 5% of the total dna in women and 2. Problems in genetic counseling and prenatal diagnosis, the possible overlap with xlinked corpus callosum agenesis and fg syndrome, and the different forms of xlinked complicated spastic paraplegia are. Fg syndrome, also known as opitzkaveggia syndrome is a genetic condition affecting intelligence and behaviour. Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia, and a characteristic facial appearance including macroc.
Fgs1 and ls share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. Although these syndromes differ, they also have the overlapping features listed on page 2. Individuals with this disorder have mild to severe intellectual disability. Fg syndrome 1 fg syndrome 2 fg syndrome 3 fg syndrome 4 fg syndrome. Fg syndrome, initially considered a rare, completely recessive xlinked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the gbbb. For language access assistance, contact the ncats public information officer. The way that these conditions are inherited is called xlinked or xlinked recessive. Or full of woe, or base, or fraught with shame, but i have seen it in thy woes and mine. We present case studies of two older males with fg syndrome and the p. Coffinlowry syndrome cls is a syndromic form of xlinked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Click on the link to view a sample search on this topic. The fg syndrome is a distinctive genetic disorder which is characterized by mental retardation, hypotonia, anal stenosis andor obstipation, macrocephaly and characteristic facial anomalies.
Clinical variability appears to be great, even within families. He had agenesis of the corpus collosom and fg syndrome screen writer for rain man met him. A healthcare providers role by pamela gillen, nd, rn, csn, sharon langendoerfer, md and karen fehringer, phd, otr fetal alcohol spectrum disorder 1 online post test see page 8 for details. They compared the findings in this family with those of 56 reported patients. The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Review of the literature and further phenotype delineation. Fg or opitz fg syndrome provides one of the best examples of syndrome splitting. Fg syndrome is a rare xlinked multiple congenital anomalycognitive impairment disorder caused by the p. Fg represents the surname initials of the first family diagnosed with the disorder. Mental retardation with or without nystagmus is also caused by mutation in the cask gene. Hypotonia with joint hyperlaxity evolves into spasticity with joint contractures later in life.
Handbook of genetic counselingfg syndrome2 wikibooks. Genetic testing for marfan syndrome, thoracic aortic 2. Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation motor and sensory neuropathy. Strengthening nurses knowledge and newborns health nursecurrents november 2012 volume 6, issue 3. X chromosomal inheritance an overview sciencedirect topics. However, there are many differences between the patients i and my colleagues studied and those with the fg syndrome. Treatment is difficult as the pathophysiology is incompletely understood.
Behavioral features in young adults with fg syndrome. They described a family with fg syndrome in 2 males and mild features in their mother. Although the parlance diseasecausing gene is common, it is the occurrence of an abnormality in these genes that causes the disease. The first page of the pdf of this article appears above. A rare association of megalocornea and mental retardation. Treatment of fg syndrome after discontinuation of ect volume 14 issue 2. This condition, first described by opitz and kaveggia, 53 presents with macrocephaly, downslanting palpebral fissures, imperforate anus or severe constipation, broad and flat thumbs and large toes, hypotonia, and id. An xlinked recessive syndrome of multiple congenital anomalies and mental retardation. The fg syndromes online mendelian inheritance in man. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems piya lahiry, jian wang, john f. The symptoms of this disorder overlap the symptoms of similar disorders.
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