Medicine: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
- ↑ "Splenogonadal fusion limb defects micrognatia". https://rarediseases.org/gard-rare-disease/splenogonadal-fusion-limb-defects-micrognatia/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Splenogonadal fusion limb defects micrognathia syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063.
- ↑ "Splenogonadal fusion limb defects micrognatia - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4963/splenogonadal-fusion-limb-defects-micrognatia.
- ↑ "Splenogonadal Fusion with Limb Defects and Micrognathia - CAGS". https://cags.org.ae/en/ctga-details/2884/splenogonadal-fusion-with-limb-defects-and-micrognathia.
- ↑ 5.0 5.1 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. https://doi.org/10.1001/archsurg.1961.01300180087016. 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. https://pubmed.ncbi.nlm.nih.gov/12884431/. Retrieved 2022-07-19.
- ↑ "Clinical Synopsis - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM". https://omim.org/clinicalSynopsis/183300.
- ↑ "Entry - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM" (in en-us). https://omim.org/entry/183300.
- ↑ 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. 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. https://pubmed.ncbi.nlm.nih.gov/7137224/. Retrieved 2022-07-19.
- ↑ Bonneau, D.; Roume, J.; Gonzalez, M.; Toutain, A.; Carles, D.; Maréchaud, M.; Biran-Mucignat, V.; Amati, P. et al. (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. https://pubmed.ncbi.nlm.nih.gov/10494091/. Retrieved 2022-07-19.
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