Splenogonadal fusion-limb defects-micrognathia syndrome explained

Synonyms:SGFLD syndrome[1]
Specialty:Medical genetics
Symptoms:Spleen-gonad fusion, limb defects, and orofacial anomalies
Complications:Premature death
Onset:Birth
Duration:Lifelong (although life is generally short for most people with the condition)
Causes:Genetic mutation
Risk:-->
Prevention:None
Management:-->
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] [10] [11]

Notes and References

  1. Web site: Splenogonadal fusion limb defects micrognatia . 2022-07-19 . 2022-05-13 . https://web.archive.org/web/20220513135757/https://rarediseases.org/gard-rare-disease/splenogonadal-fusion-limb-defects-micrognatia/ . live .
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Splenogonadal fusion limb defects micrognathia syndrome . 2022-07-19 . www.orpha.net . en . 2022-07-19 . https://web.archive.org/web/20220719231819/https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 . live .
  3. Web site: Splenogonadal fusion limb defects micrognatia - About the Disease - Genetic and Rare Diseases Information Center . 2022-07-19 . rarediseases.info.nih.gov . en . 2021-07-28 . https://web.archive.org/web/20210728013106/https://rarediseases.info.nih.gov/diseases/4963/splenogonadal-fusion-limb-defects-micrognatia . live .
  4. Web site: Splenogonadal Fusion with Limb Defects and Micrognathia - CAGS . 2022-07-19 . cags.org.ae . 2022-07-19 . https://web.archive.org/web/20220719231756/https://cags.org.ae/en/ctga-details/2884/splenogonadal-fusion-with-limb-defects-and-micrognathia . live .
  5. HINES . JAMES R. . EGGUM . PAUL R. . 1961-12-01 . Splenic-Gonadal Fusion Causing Bowel Obstruction . Archives of Surgery . 83 . 6 . 887–889 . 10.1001/archsurg.1961.01300180087016 . 13907534 . 0004-0010 . 2022-07-19 . 2022-07-19 . https://web.archive.org/web/20220719231753/https://jamanetwork.com/journals/jamasurgery/article-abstract/559925 . live .
  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 . 10.1002/ajmg.a.10728 . 1552-4825 . 12884431 . 40127231 . 2022-07-19 . 2022-03-22 . https://web.archive.org/web/20220322233924/https://pubmed.ncbi.nlm.nih.gov/12884431/ . live .
  7. Web site: Clinical Synopsis - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM . 2022-07-19 . omim.org . 2022-07-19 . https://web.archive.org/web/20220719231748/https://omim.org/clinicalSynopsis/183300 . live .
  8. Web site: Entry - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM . 2022-07-19 . omim.org . en-us . 2022-07-19 . https://web.archive.org/web/20220719231818/https://omim.org/entry/183300 . live .
  9. Putschar . Walter G. J. . Manion . William C. . 1956-02-01 . Splenic-Gonadal Fusion . The American Journal of Pathology . 32 . 1 . 15–33 . 0002-9440 . 1942585 . 13275562 .
  10. Pauli . R. M. . Greenlaw . A. . 1982-09-01 . Limb deficiency and splenogonadal fusion . American Journal of Medical Genetics . 13 . 1 . 81–90 . 10.1002/ajmg.1320130113 . 0148-7299 . 7137224 . 2022-07-19 . 2022-07-19 . https://web.archive.org/web/20220719231750/https://pubmed.ncbi.nlm.nih.gov/7137224/ . live .
  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 . 10.1002/(sici)1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a . 0148-7299 . 10494091 . 2022-07-19 . 2022-07-19 . https://web.archive.org/web/20220719231750/https://pubmed.ncbi.nlm.nih.gov/10494091/ . live .

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