Splenogonadal fusion-limb defects-micrognathia syndrome

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]

Splenogonadal fusion-limb defects-micrognathia syndrome
Other namesSGFLD syndrome[1]
SpecialtyMedical genetics
SymptomsSpleen-gonad fusion, limb defects, and orofacial anomalies
ComplicationsPremature death
Usual onsetBirth
DurationLifelong (although life is generally short for most people with the condition)
CausesGenetic mutation
PreventionNone
PrognosisPoor
FrequencyAbout 30 cases have been described in medical literature
Deaths9

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
  1. "Splenogonadal fusion limb defects micrognatia". Archived from the original on 2022-05-13. Retrieved 2022-07-19.
  2. 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.
  3. "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.
  4. "Splenogonadal Fusion with Limb Defects and Micrognathia - CAGS". cags.org.ae. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
  5. 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.
  6. 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.
  7. "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.
  8. "Entry - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM". omim.org. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
  9. 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.
  10. 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.
  11. 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.
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