Feingold Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Feingold syndrome is a very rare congenital disease with a combination of microcephaly , facial abnormalities of the eyes and ears, malformations of the hands and feet as well as esophageal or small bowel fistula , hence Latin as Oculo-Digito esophagogastrostomy-duodenal syndrome (ODED) designated.
Synonyms are: Brunner-Winter syndrome; FGLDS; FS; Finger anomalies - short eyelid slits - esophageal or duodenal atresia; MMT; MODED syndrome; Microcephaly - intellectual disability - tracheo-esophageal fistula; Microcephaly - oculo-digito-esophago-duodenal syndrome; Microcephaly-finger abnormalities-normal intelligence syndrome; ODED syndrome
The name refers to the first author of the first description from 1975 by the US human geneticist Murray Feingold (1930-2015).
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant . Fewer than 100 patients have been described to date.
root cause
Depending on the mutations underlying the disease, a distinction is made between the following forms:
- Type 1 , mutations at MYCN - gene in the chromosome 2 gene locus p24.3
- Type 2 , mutations in the MIR17HG gene in chromosome 13 q31.3
Clinical manifestations
Clinical criteria are:
- Microcephaly with or without learning disabilities (in up to 80%)
- Facial abnormalities: short eyelids , flat nasal bridge with anteverted nostrils , deformed ears , microgenius or micrognathy
- Anomalies of the hands and feet, on the hands brachymesophalangia with flexion deformity of the middle finger and clinodactyly of the index and little finger as a result of hypoplasia of the middle phalanx, thumb hypoplasia; bilateral syndactyly of toes II / III and IV / V on both feet
- Tracheo-oesophageal fistula and / or fistula on the duodenum in 30%
rarely other malformations such as vertebral anomalies or anal atresia
literature
- M. Chopra, C. James, S. Adams, D. Mowat: Duodenal atresia: consider Feingold syndrome. In: Journal of pediatrics and child health. Vol. 46, No. 3, March 2010, pp. 136-137, doi: 10.1111 / j.1440-1754.2010.01695.x , PMID 20415994 .
- TE Herman, MJ Siegel: Feingold syndrome: microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, limb anomalies. In: Journal of perinatology: official journal of the California Perinatal Association. Vol. 24, No. 9, September 2004, pp. 568-570, doi: 10.1038 / sj.jp.7211144 , PMID 15329739 .
- M. Feingold: An unusual microcephaly. In: Hospital practice. Vol. 13, No. 2, February 1978, pp. 44, 49, PMID 631836 .
Individual evidence
- ↑ a b c Feingold syndrome. In: Orphanet (Rare Disease Database).
- ↑ M. Feingold: Case report 30. In: Synd. Ident., Vol. 3, 16-17, 1975
- ^ Feingold syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Feingold syndrome 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ M. Feingold, BD Hall, Y. Lacassie, ML Martínez-Frías: Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. In: American journal of medical genetics. Vol. 69, No. 3, March 1997, pp. 245-249, PMID 9096752 .
