Medical condition
Splenogonadal fusion-limb defects-micrognathia syndrome , also known by its abbreviation, SGFLD syndrome , is a rare genetic disorder characterized by abnormal fusion of the spleen and the gonad (splenogonadal fusion ) alongside limb defects and orofacial anomalies. It is a type of syndromic dysostosis .[ 2]
Children with this condition typically have abnormal fusion of the spleen and the gonad , amelia (or any kind of severe shortening of a limb), microglossia , cleft palate , bifid uvula , micrognathia . Additional symptoms include cryptorchidism , anal stenosis , anal atresia , pulmonary hypoplasia , and congenital heart defects .[ 3] [ 4]
This condition is highly fatal, fetuses/children with this condition are more likely to either be stillborn or die in infancy .[ 5]
This condition is congenital, although an exact inheritance pattern isn't known.[ 6] OMIM proposes it to be autosomal dominant.[ 7]
Around 30 cases of SGLD have been described in medical literature.[ 8] Most of them were male.[ 9] [ 5] [ 10] [ 11]
References
^ "Splenogonadal fusion limb defects micrognatia" . Archived from the original on 2022-05-13. Retrieved 2022-07-19 .
^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Splenogonadal fusion limb defects micrognathia syndrome" . www.orpha.net . Archived from the original on 2022-07-19. Retrieved 2022-07-19 . {{cite web }}
: CS1 maint: numeric names: authors list (link )
^ "Splenogonadal fusion limb defects micrognatia - About the Disease - Genetic and Rare Diseases Information Center" . rarediseases.info.nih.gov . Archived from the original on 2021-07-28. Retrieved 2022-07-19 .
^ "Splenogonadal Fusion with Limb Defects and Micrognathia - CAGS" . cags.org.ae . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .
^ a b HINES, JAMES R.; EGGUM, PAUL R. (1961-12-01). "Splenic-Gonadal Fusion Causing Bowel Obstruction" . Archives of Surgery . 83 (6): 887–889. doi :10.1001/archsurg.1961.01300180087016 . ISSN 0004-0010 . PMID 13907534 . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .
^ McPherson, Fiona; Frias, Jaime L.; Spicer, Diane; Opitz, John M.; Gilbert-Barness, Enid F. (2003-08-01). "Splenogonadal fusion-limb defect "syndrome" and associated malformations" . American Journal of Medical Genetics. Part A . 120A (4): 518–522. doi :10.1002/ajmg.a.10728 . ISSN 1552-4825 . PMID 12884431 . S2CID 40127231 . Archived from the original on 2022-03-22. Retrieved 2022-07-19 .
^ "Clinical Synopsis - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM" . omim.org . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .
^ "Entry - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM" . omim.org . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .
^ Putschar, Walter G. J.; Manion, William C. (1956-02-01). "Splenic-Gonadal Fusion" . The American Journal of Pathology . 32 (1): 15–33. ISSN 0002-9440 . PMC 1942585 . PMID 13275562 .
^ Pauli, R. M.; Greenlaw, A. (1982-09-01). "Limb deficiency and splenogonadal fusion" . American Journal of Medical Genetics . 13 (1): 81–90. doi :10.1002/ajmg.1320130113 . ISSN 0148-7299 . PMID 7137224 . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .
^ Bonneau, D.; Roume, J.; Gonzalez, M.; Toutain, A.; Carles, D.; Maréchaud, M.; Biran-Mucignat, V.; Amati, P.; Moraine, C. (1999-10-08). "Splenogonadal fusion limb defect syndrome: report of five new cases and review" . American Journal of Medical Genetics . 86 (4): 347–358. doi :10.1002/(sici)1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a . ISSN 0148-7299 . PMID 10494091 . Archived from the original on 2022-07-19. Retrieved 2022-07-19 .