Eastman-Bixler Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Eastman-Bixler syndrome or Fazio-cardio-renal syndrome is a very rare congenital disease presumably with intellectual disabilities , horseshoe kidney and congenital heart defects.
The name refers to a case description by the authors JR Eastman and the American dentist and geneticist D. Bixler from 1977.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . So far only two families have been described.
Clinical manifestations
The signs of dysmorphism include plagiocephaly , zygomatic hypoplasia , a wide bridge of the nose, a narrow philtrum , a cleft palate, and reduced tooth systems. The heart defects included endocardial fibroelastosis and prolapse of the tricuspid valve .
literature
- NC Nevin, AE Hill, DJ Carson: Facio-cardio-renal (Eastman-Bixler) syndrome. In: American journal of medical genetics. Vol. 40, No. 1, July 1991, pp. 31-33, ISSN 0148-7299 . doi : 10.1002 / ajmg.1320400106 . PMID 1887846 .
Individual evidence
- ^ A b Eastman-Bixler syndrome. In: Orphanet (Rare Disease Database).
- ↑ Who named it
- ^ JR Eastman, D. Bixler: Facio-cardio-renal syndrome: a newly delineated recessive disorder. In: Clinical genetics. Vol. 11, No. 6, June 1977, pp. 424-430, ISSN 0009-9163 . PMID 880742 .
Web links
- 227280 Eastman-Bixler Syndrome. In: Online Mendelian Inheritance in Man . (English)
