SGFLD syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The SGFLD syndrome , acronym for S pleno G onadale F usion , L IMB (limbs) Defects and M ikrognathie , is a very rare congenital disease with the eponymous main features.

The distinction as an independent syndrome was made in 1956 by the US pathologists W. G. Putschar and WC Manion .

distribution

The frequency is given as less than 1 in 1,000,000.

Clinical manifestations

In addition to the picture of splenogonadal fusion, limb malformations such as amelia , hemimelia, and facial dysmorphism with cleft palate , microglossia and hypoplasia of the lower jaw can occur. In addition, there can be cryptorchidism , anal atresia , pulmonary hypoplasia and heart defects .

literature

  • F. McPherson, JL Frias, D. Spicer, JM Opitz, EF Gilbert-Barness: Splenogonadal fusion-limb defect "syndrome" and associated malformations. In: American journal of medical genetics. Part A. Vol. 120A, No. 4, August 2003, pp. 518-522, doi: 10.1002 / ajmg.a.10728 , PMID 12884431 .

Individual evidence

  1. ↑ a b c Splenogonadal fusion - extremity malformation - micrognathia. In: Orphanet (Rare Disease Database).
  2. ↑ WG Putschar, WC Manion: fusion Splenicgonadal. In: The American journal of pathology. Vol. 32, No. 1, 1956 Jan-Feb, pp. 15-33, PMID 13275562 , PMC 1942585 (free full text).

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