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Opitz kaveggia syndrome cause

Opitz-Kaveggia syndrome (FG syndrome): Learn mor

OMIM Entry - # 305450 - OPITZ-KAVEGGIA SYNDROME; OK

  1. The -Opitz-Kaveggia- syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Previously, the molecular basis of this condition was unknown
  2. Computer-aided facial recognition of individuals with FG (Opitz-Kaveggia) syndrome caused by p.Arg961Trp mutation in MED12 1. Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Rabin Medical Center and and Felsenstein Medical Research Center, Petah Tikva, Israel 2. FDNA Ltd., Herzlyia, Israel 3
  3. Opitz-Kaveggia Syndrome (FGS): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis
  4. FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, its major clinical features.

Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. 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 FG syndrome is inherited in an X-linked recessive pattern.The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes.In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition One X-linked mental retardation (XLMR) syndrome in need of molecular resolution is Opitz-Kaveggia syndrome (also named FG syndrome, for the original family's initials; OMIM #305450), which was..

Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Opitz-Kaveggia syndrome is a rare X-linked multiple congen.. Gilbert syndrome is a liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia). Most people with Gilbert syndrome do not have symptoms or have mild jaundice.In some cases, jaundice is triggered or made worse.

FG Syndrome Type 1 - NORD (National Organization for Rare

MED12 and Opitz-Kaveggia Syndrome - Oxford Medicin

- Caused by mutation in the homolog of S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 gene (MED12, 300188.0001 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 FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to.

Opitz and Kaveggia [1974] reported on a family of 5 affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [2007] identified an identical mutation (p.R961W) in MED12 in 6 families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974 What does opitz-kaveggia-syndrome mean? FG syndrome. (noun Mutations in the X-linked gene MED12 cause at least three different, but closely related, entities of syndromic intellectual disability. Recently, a new syndrome caused by MED13L deleterious. Similarly, what mutation causes sickle cell anemia? Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11. Beside above, is the mutation found in sickle cell hemoglobin A. Lujan syndrome (also known as Lujan-Fryns Syndrome) and FG syndrome Type 1 (also known as Opitz-Kaveggia Syndrome) and Ohdo syndrome, MKB type are inherited in an X-linked recessive manner and are caused by pathogenic variants in the MED12 gene. The majority of unique MED12 pathogenic variants were found in patients with intellectual disability

Opitz-Kaveggia syndrome is a rare X‐linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty‐three affected males from 10 families with this mutation in the MED12 gene have been described so far Opitz-Kaveggia syndrome: Is Sickle-Cell Anemia a deletion? These structures cause red blood cells to become stiff, assuming a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue. Sickle cells are destroyed rapidly in the bodies of people with the disease, causing anemia

Greetings, People call me FG Syndrome, but my real name is Opitz-Kaveggia syndrome. My nickname FG came from the first letters of the surnames of the first patients that were diagnosed. I'm a rare genetic syndrome caused by having one or more recessive genes that happen to be located on the X chromosome Symptoms of early dumping syndrome may include pain in your abdomen and feeling tired or needing to lie down. Late dumping syndrome. Symptoms of late dumping syndrome occur 1 to 3 hours after you eat a meal. The symptoms of late dumping syndrome are caused by low blood glucose, also called low blood sugar or hypoglycemia. Symptoms of late.

About the -Opitz-Kaveggia- syndrome - Thyroid Disease

  1. TEXT. A number sign (#) is used with this entry because of evidence that the Opitz-Kaveggia syndrome, also known as FG syndrome-1 (FGS1), is caused by mutation in the MED12 gene (300188) on chromosome Xq13. Description. Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic
  2. Takotsubo cardiomyopathy, also called broken-heart syndrome, is a weakening of the left ventricle that is usually the result of severe stress. Its symptoms resemble those of a heart attack, and treatment is usually the same as that for heart failure
  3. Clinical test for Anemia, nonspherocytic hemolytic, due to G6PD deficiency offered by Reference Laboratory Genetic
  4. Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene

Overview. 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. Deficiencies in the protein complexes that help form and reinforce these DNA loops can cause multiple syndromes and diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, schizophrenia, and. Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene John M Graham Jr1, Jeannie Visootsak2, Elisabeth Dykens3, Lillie Huddleston2, Robin D Clark4, Kenneth L Jones5, John B Moeschler6, John M Opitz7, Jackie Morford8, Richard Simensen9, R. Curtis Rogers9, Charles E Schwartz9, Michael J. Rump, P. et al. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin. Genet. 79, 183-188 (2011). CAS Article Google Scholar 28. Lyons MJ. MED12-Related Disorders. 2008.

  1. Opitz-Kaveggia syndrome (1974) [FG syndrome type 3] X-linked recessive mental retardation syndrome syndrome characterized by the R961W mutation of MED12. A helpful diagnostic finding is the relatively small ears
  2. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
  3. Sotos syndrome; Marshall-Smith syndrome; MED12-related intellectual disability syndromes (including Lujan-Fryns syndrome, Opitz-Kaveggia syndrome, and Ohdo syndrome) Waisman syndrome; Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) Epilepsy with variable learning disabilities and behavior disorder
  4. ent forehead with frontal hair upsweep, and broad thumbs and halluces

Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner (MKB) type, which, in contrast to the others, is characterized by X-linked inheritance and facial. Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and X-linked Ohdo syndrome. We report a family with two severely micrognathic male sibs, a 10½ year old boy and a fetus, in which hemizygosity for a previously. Functionally this relation could be caused by the GLI3-MED12 interaction at the MBD: pathogenic DNA variants in MED12 can cause Opitz-Kaveggia syndrome, a syndrome in which presentation includes corpus callosum agenesis, broad halluces and thumbs.4 MED12 cause such diseases as Lujan syndrome, Opitz-Kaveggia syndrome, uterine fibroids and prostate cancer. Investigation into the relationship be-tween mutations and diseases is still in the beginning. It is predictable that more diseases will be found to be linked with MED12 mutations. Comparison of the gene expression profiles between pa Mutations of the MED12 gene can cause MED12-related syndrome, a disease that varies in its clinical manifestations (Charzewska et al., 2018) and currently has at least four different subtypes: Opitz-Kaveggia syndrome (FGS1); Lujan syndrome (LS); Ohdo syndrome, the Maat-Kievit-Brunner type (OSMKB); and nonspecific intellectual disability (NSID.

Opitz-Kaveggia Syndrome (FGS): Symptoms, Diagnosis and

Lujan-Fryns syndrome (LFS) is an X-linked disorder characterized by varying degrees of symptoms, including mental retardation, Marfanoid habitus, facial deformities, hyper nasal speech, and psychopathology and related behavioral abnormalities. The prevalence and full spectrum of LFS's clinical symptoms remain unknown, but the disease is reportedly caused by at least one mutation in the. I think we have a fundamental new insight into the underlying causes of several neurological and developmental diseases, including Opitz-Kaveggia syndrome, Lujan syndrome and Cornelia de Lange syndrome, says Whitehead Institute Member Richard Young. And it comes with a surprising new understanding of the control of genes Mutations in this gene account for a restricted number of FGS patients with a more distinctive phenotype, referred to as the Opitz-Kaveggia phenotype. We report here that a p.R28L (c.83G/T) missense mutation in CASK causes FGS phenotype in an Italian family previously mapped to Xp11.4-p11.3 (FGS4) Other names for FG syndrome include Opitz-Kaveggia Syndrome and Keller syndrome. Genetic profile. FG syndrome (FGS) is caused by mutations on the long arm of the X-chromosome. Studies in 1998 and 2000 found that individuals affected by FGS can have a mutation on the X-chromosome in two different locations on the long arm (q) of the X-chromosome.

Search for: Rare Disease Profiles; 5 Facts; Rare IQ; Rare Mystery; Its causal role appears to be restricted to the Opitz-Kaveggia phenotype, which seems to represent a specific phenotype within the broad spectrum of FGS. 9 A different p.N1007S (c.3020A→G) missense mutation in MED12 has also been found in the original family with Lujan-Fryns syndrome (MIM 309520) and in another distinct family. 17 In addition. Lujan Syndrome (LS; also known as Lujan-Fryns Syndrome) and FG Syndrome Type 1 (FGS1; also known as Opitz-Kaveggia Syndrome) are allelic disorders with overlapping clinical phenotypes. LS and FGS1 share the clinical findings of cognitive impairment and hypotonia (Lyons et al. J Med Genet 46:9-13, 2009). However, LS is further characterized by a Marfan-like appearance, which include a marfanoid. With this approach, the Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A phenotypic boundaries of Lujan syndrome (ie, those cases with recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia mutations in the MED12 gene) may be determined. syndrome

The CIA is tapping the lead officer involved in the hunt for Osama bin Laden to find the cause of Havana Syndrome. The mysterious illness has impacted diplomats and spies in Cuba, China, Austria. MyGene2 connects families with rare conditions, clinicians, and researchers who are interested in publicly sharing health and genetic information with one another The Kaveggia syndrome or Neuhäuser-Kaveggia syndrome is a very rare, not certain independent congenital disease with the main characteristics of the most severe mental handicap, spasticity and athetosis, short stature and facial dysmorphism.. Synonyms are: BD syndrome. The name refers to the authors of the first description from 1975 by the neuropediatrist Gerhard Neuhäuser, the American.

FG syndrome - Wikipedi

Opitz-Kaveggia syndrome: Likewise, silent mutations that cause such skipping of exon excision have been identified in genes thought to play roles in genetic disorders such as Laron dwarfism, Crouzon syndrome, β+-thalassemia, and phenylalanine hydroxylase deficiency (phenylketonuria (PKU)) KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another

FG syndrome Genetic and Rare Diseases Information Center

Stathopulu et al. (2003, PMID 12784307) describe a 16-year-old male with phenotypic features of Lujan-Fryns syndrome and a submucous cleft palate. Little literature linking Opitz-Kaveggia syndrome and clefting. Rated red as clefting does not appear to be a major phenotype in MED12-associated disorders. Created: 31 May 2017, 11 a.m May cause diseases like Opitz-Kaveggia syndrome. 3. Define: 3. nitrogen base- an organic molecule with a nitrogen atom that has the chemical properties of a base. 4. base pairing- two DNA bases that are complementary to one another and join in strands to form the double-helix that is characteristic of DNA

FG syndrome: MedlinePlus Genetic

The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. The DNA loop structure is essential fo Summaries for Opitz-Kaveggia Syndrome. MedlinePlus Genetics : 43 FG syndrome 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 family diagnosed with the disorder.FG syndrome affects intelligence and behavior. Almost everyone with the condition has. Opitz-Kaveggia Syndrome (FG Syndrome) OMIM# 305450 Born out of decades of research and data collection, London Medical Databases (LMD) is the most comprehensive resource for photos and information about syndromes, genes and clinical phenotypes In adulthood, deaths caused by Opitz-Kaveggia syndrome are rare. genetics. The cause of the FG syndrome are mutations in the MED12 gene ( mediator complex subunit 12). The affected gene is located on the X chromosome, gene locus 13.1. It is 25 kB in size and consists of 44 exons

Opitz G/BBB syndrome: MedlinePlus Genetic

Graham JM, Visootsak J, Ykens E. Clinical and behavioral features in patients with FG (Opitz-Kaveggia) syndrome and a recurrent mutation, p.R961W, in the MED12 gene. Presented at the 13th International Workshop on Fragile X and X-linked Mental Retardation In Opitz-Kaveggia syndrome, also known as FG syndrome, the mutation involves the MED12 gene, which is located on Xq13 and is a member of the large mediator complex; it has a relevant role in RNA polymerase II transcription. The mutations of MED12 can cause, in addition to the FG syndrome, the Lujan syndrome and Ohdo syndrome 114. Problems with the loop structure can cause multiple syndromes and diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, schizophrenia and Cornelia de Lange syndrome

An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd. 1974;117:1-18. Article CAS PubMed Google Scholar 21. Risheg H, Graham Jr JM, Clark RD, Rogers RC, Opitz JM, Moeschler JB, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome Gilbert's syndrome is a genetic condition that's passed down from your parents. It's caused by a mutation in the UGT1A1 gene. This mutation results in your body creating less bilirubin-UGT. Variants in MED12 are associated with 3+ intellectual disability syndrome (Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome are the ones mentioned on OMIM). The overall phenotype for each syndrome seems to overlap and the criteria used to distinguish between the different syndromes can be different for each paper Opitz-Kavaggia syndrome An X-linked recessive mental retardation syndrome (OMIM:305450) characterised by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces; accompanied by hypotonia, constipation and partial agenesis of the corpus callosum; variably accompanied by.

Missense mutations of MED12 can cause X-linked mental retardation, notably Opitz-Kaveggia syndrome (also known as FG syndrome) and Lujan-Fryns syndrome. 7, 8 The protein encoded by MED12L shares 67% amino acid sequence similarity to MED12 and contains MED12-like proline-rich, glutamine-rich, and leucine-rich (PQL) and glutamine-rich (OPA. Lujan Fryns syndrome is a condition characterized by intellectual disability, behavioral problems and certain physical features. It is an uncommon condition with unknown prevalence caused by atleast one mutation in the MED12 gene. We report a case which has been diagnosed with Lujan Fryns syndrome topics: opitz-kaveggia-syndrome, mental-retardation, mediator complex, fg syndrome, blepharophimosis, yeast, gene, coactivator, proteins, diseas Opitz-Kaveggia syndrome What is the difference between a point mutation and a silent mutation? If the mutation is caused by the exchange of one base pair, it is a point mutation, no matter if it resulted in no change in the overall protein (silence mutation), in a change in one aminoacid (missense mutation) or in a stop codon (no-sense mutation)

A recurrent mutation in MED12 leading to R961W causes

MED12 Opitz-Kaveggia syndrome Mutations in MED12 have been identified in patients with Opitz-Kaveggia syndrome. This X-linked intellectual disability syndrome is characterized by dysmorphic features, relative macrocephaly, hypotonia, constipation and characteristic brain MRI imaging. A single missense mutation (p.N1007S) in th Causes of Frontal upsweep of hair. Some of the causes of the condition may include: Causes of Frontal Upsweep Of Hair: Aminopterin Syndrome Sine Aminopterin; Johanson-Blizzard Syndrome; Macdermot-Winter Syndrome Nablus Mask-Like Facial Syndrome; Opitz-Kaveggia Syndrome; Pallister W Syndrome; Prader-Willi Syndrome; Rubinstein-Taybi Syndrome 1. 3.. Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, et al. (2007) A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 39: 451-453. View Article Google Scholar 23 FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. [1] First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, [2] its major clinical. Example: Opitz-Kaveggia syndrome, Cri du chat syndrome, Some cancers, and One form of leukemia. 4. Point. A point mutation or substitution is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. Example: One form of beta-thalassemia, Sickle-cell anemia, and Cystic.

Gilbert syndrome Genetic and Rare Diseases Information

MED23 is a subunit of the Mediator complex, a key regulator of protein-coding gene expression. Here, we report a missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability. This mutation specifically impaired the response of JUN and FOS immediate early genes (IEGs) to serum mitogens by altering the interaction between enhancer-bound. Brain. 2014;137(6):1579-1613. By 20 weeks post-conception, the final shape of the corpus callosum is complete, although exuberant axonal growth continues until 2 months after birth; this is then. Zespół Opitza-Kaveggi - rzadki, uwarunkowany genetycznie zespół wad wrodzonych o dziedziczeniu związanym z chromosomem X, charakteryzujący się opóźnieniem umysłowym, niskorosłością, przykurczami stawowymi, hipotonią mięśniową, malformacjami odbytu i odbytnicy, makrocefalią, charakterystycznym zestawem cech dysmorficznych twarzy, drgawkami, niekiedy głuchotą czuciowo-nerwową

FG syndrome 1 (Concept Id: C0220769

Opitz-Kaveggia syndrome What is the rarest genetic disorder? According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history Pallister Killian syndrome is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12 (chromosome 12p), which usually cytogenetically presents as an extra isochromosome 12p 9). Wide phenotypic variability in Pallister Killian syndrome has been reported, ranging from pre.

A de novo splice site mutation in CASK causes FG syndrome

Computer-aided facial recognition of individuals with FG (Opitz-Kaveggia) syndrome caused by p.Arg961Trp mutation in MED12 November 6, 2012 FDNA presented Computer-aided facial recognition of individuals with FG (Opitz-Kaveggia) syndrome caused by p.Arg961Trp mutation in MED12 at the 62nd Annual Meeting of the American Society of Human. Abstract: Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far (d) Increased incidence of keloids in patients with some genetic syndromes like Turner syndrome, Opitz- Kaveggia syndrome, Rubinstein Taybi syndrome and Ehlers Danlos syndrome [31,32]. Proposed inheritance patterns include autosomal recessive, autosomal dominant with incomplete penetrance, and variable expression [4,26]

The pinna is a prominent facial feature well recognised to affect self-esteem when appearance deviates from the perceived norm. Johns et al. showed that correction of external ear deformities can reduce anxiety and depression in children and improve social skills [].From the literature, it is clear that auricular reconstruction is a complex task owing to the intricate three-dimensional structure Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and.. Lujan-Fryns syndrome is a rare genetic disorder which causes mental retardation and physical characteristics similar to those found in Marfan syndrome. Acknowledgement Acknowledgement of Lujan-Fryns Syndrome has not been added yet MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009] Databases FG syndrome. Rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. Wikipedia. Coffin-Siris syndrome. Rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991