VACTERL-Assoziation

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.

Epidemiology

The estimated incidence is 1 in 10,000-40,000 births .

Pathology

The acronym VACTERL derives from:

• V: vertebral anomalies
  • hemivertebrae
  • congenital scoliosis
  • caudal regression
  • spina bifida
• A: anorectal anomalies
  • anal atresia
• C: cardiac anomalies; cleft lip
• TE: tracheo-esophageal fistula +/- esophageal atresia
• R: renal anomalies; radial ray anomalies
• L: limb anomalies
  • polydactyly
  • oligodactyly

At least three of the above features (in each category) is considered necessary for the diagnosis of this condition .

The association does not include cranial / CNS anomalies. If there is accompanying hydrocephalus, the term VACTERL-H is used by some authors

Genetics

The vast majority of VACTERL associations are thought to have a sporadic occurrence with occasional autosomal recessive forms. There is no known underlying genetic defect .

Siehe auch:

• Spina bifida
• Hydrocephalus
• angeborene Wirbelanomalien
• Polydaktylie
• Ösophagusatresie
• Analatresie
• caudal regression syndrome
• Lippen-Kiefer-Gaumen-Spalte
• Halbwirbel
• VATER association
• cardiac anomalies
• VACTERL-H
• Hunter-MacMurray-Syndrom
• David-O'Callaghan-Syndrom
• renal anomalies
• Radialstrahldefekte

und weiter:

• Blockwirbel
• congenital tracheo-oesophageal fistula
• angeborene renale Anomalien
• Tracheomalazie
• Syndaktylie
• einseitige Nierenagenesie
• nuchal translucency
• caudal dysplasia sequence
• Radiusaplasie
• VATER
• VATER anomaly
• esophageal atresia with H-type tracheo-esophageal fistula
• Holt-Oram-Syndrom
• H-type tracheo-oesophageal fistula with no atresia
• VACTERL-H association