Hecht-Scott syndrome

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Classification according to ICD-10
Q87.2 Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The Hecht-Scott syndrome is a very rare congenital disease with the main features of F ibula- A hyperplasia , T ibiale C ampomelie and O ligosyndaktylie , hence the acronym Fatco syndrome .

Synonyms are: English Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome; Terminal transverse defects of the limbs associated with congenital heart malformations; Limb deficiency-heart malformation syndrome

The name refers to the first authors of the first description from 1981 by the American human geneticist Jacqueline T. Hecht and the pediatrician Charles I. Scott .

The acronym was proposed by W. Courtens et al . In 2005 .

distribution

The frequency and cause are not yet known.

Clinical manifestations and diagnosis

Clinic and diagnosis result from the changes mentioned in the acronym.

therapy

The treatment is described under the respective characteristics.

literature

  • M. D'Amato Gutiérrez, FA Palacio Díaz: Reporte de caso de síndrome FATCO: aplasia fibular, campomelia de tibia y oligosindactilia. In: Archivos argentinos de pediatría. Volume 114, number 3, June 2016, pp. E167 – e170, doi: 10.5546 / aap.2016.e167 , PMID 27164350 .
  • N. Goyal, R. Kaur, M. Gupta, S. Bhatty, R. Paul: FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly - A Case Report. In: Journal of clinical and diagnostic research: JCDR. Volume 8, number 9, September 2014, pp. LD01 – LD02, doi: 10.7860 / JCDR / 2014 / 9275.4787 , PMID 25386471 , PMC 4225923 (free full text).
  • T. Bieganski, A. Jamsheer, A. Sowinska, D. Baranska, K. Niedzielski, K. Kozlowski, M. Czarny-Ratajczak: Three new patients with FATCO: fibular agenesis with ectrodactyly. In: American journal of medical genetics. Part A. Volume 158A, number 7, July 2012, pp. 1542-1550, doi: 10.1002 / ajmg.a.35369 , PMID 22628253 .

Individual evidence

  1. ↑ Limb malformations, transverse cardiopathy. In: Orphanet (Rare Disease Database).
  2. ↑ http://www.whonamedit.com/synd.cfm/2291.html Who named it Hecht-Scott Syndrome
  3. ^ JT Hecht, CI Scott: Limb deficiency syndrome in half-sibs. In: Clinical genetics. Volume 20, Number 6, December 1981, pp. 432-437, PMID 7337959 .
  4. ^ W. Courtens, A. Jespers, I. Harrewijn, D. Puylaert, F. Vanhoenacker: Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. In: American journal of medical genetics. Part A. Volume 134, number 3, April 2005, pp. 321-325, doi: 10.1002 / ajmg.a.30441 , PMID 15754355 (review).
  5. ↑ FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME.  In: Online Mendelian Inheritance in Man . (English)

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