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. [ GARD:0002317 ]
Synonyms: Keller syndrome
Term information
- UMLS:C0220769 (MONDO:equivalentTo)
- SCTID:49984004 (MONDO:equivalentTo)
- DOID:14711 (MONDO:equivalentTo)
- ICD9:759.89 (MONDO:relatedTo)
- Orphanet:323 (MONDO:equivalentObsolete)
- OMIMPS:305450 (MONDO:equivalentTo)
rare, orphanet_rare
https://omim.org/phenotypicSeries/PS305450
http://identifiers.org/snomedct/49984004
http://purl.obolibrary.org/obo/DOID_14711
http://linkedlifedata.com/resource/umls/id/C0220769
mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
FGS
intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum