VACTERL association

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

Malformations of the arm

The term VACTERL association summarizes a combination of complex malformations on the basis of embryonic, possibly autosomal - recessively inherited developmental disorders.

VACTERL is an acronym that describes the possible malformations:

• V - Vertebral anomalies / malformations of the spine (vertebral)
• A - Anal and auricular anomalies / malformations of the anus e.g. E.g .: anal atresia (closure of the anus or rectum )
• C - heart failure (ger .: cardiac defects) especially ventricular septal defect ( ventricular septal defect )
• T - Tracheo-oesophageal fistula / connection between the trachea and esophagus
• E - esophageal atresia (esophagus) / esophageal obstruction
• R - Renal malformation / renal malformation / renal agenesis (renal)
• L - Limb malformations / malformation of the limbs, arms or legs (eg. Daum malformations , clubhand )

If a child has at least three of these malformations, it is, from a medical point of view, included in the group of children with the VACTERL association, and VATER syndrome is also used synonymously .

distribution

The frequency is given as 1 in 10,000 - 40,000 newborns.

root cause

The causes are not yet known; the disease usually occurs sporadically.

According to the article " Malformation ", the cause could lie here: The estrogen-progestogen combination Duogynon ( solution for injection: estradiol benzoate and progesterone ; tablet form: ethinylestradiol and norethisterone acetate; also marketed in other countries), which has been used since the 1950s to 1980 for the treatment of menstrual disorders and as a pregnancy test under the names Cumorit and Primodos ) from the manufacturer Schering was first associated with various malformations that occurred in newborns ( neural tube defects , cardiovascular malformations, VACTERL association) in the 1960s . The studies published in this context were of different quality and the results were inconsistent, so that neither a causal effect nor a statistically reliable correlation could be demonstrated. A case against Schering by the Berlin public prosecutor's office was closed in 1980.

Exceptions are the following, very rare forms:

• VACTERL-H , associated with hydrocephalus , autosomal - recessive , mutations in the PTEN gene at the locus 10q23.31
• VACTERL , (Synonym: Sujansky-Leonard Syndrome ), X-linked recessive, mutations in the ZIC3 gene at Xq26.3

Diagnosis and therapy

The diagnosis and respective treatment can be found under the individual malformations listed in the acronym.

Differential diagnosis

The following are to be distinguished:

• Baller-Gerold syndrome
• CHARGE syndrome
• Currarino Syndrome
• Fanconi anemia
• Feingold Syndrome
• Fryns Syndrome
• Goldenhar Syndrome
• Microdeletion Syndrome 22q11
• MURCS association
• Pallister Hall Syndrome
• Townes-Brocks Syndrome

history

The term VATER was coined in 1972 by L. Quan and DW Smith , the expansion to VACTERL took place in 1974 by SA Temtamy and JD Miller .

literature

• W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 , Vol. 1, p. 104
• BD Solomon: VACTERL / VATER Association. In: Orphanet Journal of Rare Diseases. Vol. 6, 2011, p. 56, doi : 10.1186 / 1750-1172-6-56 , PMID 21846383 , PMC 3169446 (free full text) (review).
• MJ Khoury, JF Cordero, F. Greenberg, LM James, JD Erickson: A population study of the VACTERL association: evidence for its etiologic heterogeneity. In: Pediatrics . Vol. 71, No. 5, May 1983, pp. 815-820, PMID 6835768 .

Individual evidence

1. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b c} VACTERL / VATER association. In: Orphanet (Rare Disease Database).
3. ↑ FATHER / VACTERL ASSOCIATION.  In: Online Mendelian Inheritance in Man . (English)
4. ^ Genetics Home Reference
5. ↑ Corience.org to VACTERL
6. ^ FATHER association with macrocephaly and ventriculomegaly.  In: Online Mendelian Inheritance in Man . (English)
7. ^ VACTERL association, X-linked.  In: Online Mendelian Inheritance in Man . (English)
8. ^ VACTERL association with hydrocephalus. In: Orphanet (Rare Disease Database).
9. ^ E. Sujansky, B. Leonard: VACTERL association with hydrocephalus - a new recessive syndrome? (Abstract) In: American Journal of Human Genetics , Vol. 35, 1983, p. 119A only.
10. ^ L. Quan, DW Smith: The VATER association. Vertebral defects, anal atresia, TE fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. In: The Journal of pediatrics. Volume 82, Number 1, January 1973, pp. 104-107, PMID 4681850 .
11. ^ SA Temtamy, JD Miller: Extending the scope of the VATER association: definition of the VATER syndrome. In: The Journal of pediatrics. Volume 85, Number 3, September 1974, pp. 345-349, PMID 4372554 .

Web links

• Information from KEKS eV
• Rare Diseases
• Right diagnosis

Commons : VACTERL association  - collection of images, videos and audio files

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !