Splenogonadal fusion-limb defects-micrognathia syndrome
| Splenogonadal fusion-limb defects-micrognathia syndrome | |
|---|---|
| Other names | SGFLD syndrome[1] |
| Specialty | Medical genetics |
| Symptoms | Spleen-gonad fusion, limb defects, and orofacial anomalies |
| Complications | Premature death |
| Usual onset | Birth |
| Duration | Lifelong (although life is generally short for most people with the condition) |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Poor |
| Frequency | About 30 cases have been described in medical literature |
| Deaths | 9 |
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
[edit]- ^ "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.