FG syndrome https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome https://www.malacards.org/card/opitz_kaveggia_syndrome intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum ICD9:759.89 SCTID:49984004 MEDGEN:113106 DOID:14711 FGS1 FGS icd11.foundation:156523187 OMIMPS:305450 EFO:0009297 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 firstindividuals diagnosed with the disorder.People withFG 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,alarge 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. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. 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.Individualized early intervention and educational services are important so that each child can reach their fullest potential. Opitz-Kaveggia syndrome mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum UMLS:C0220769 MONDO:0002010 Keller syndrome Orphanet:323 syndromic disease hereditary disease