Van der Woude syndrome

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Classification according to ICD-10
Q38.0 Congenital malformations of the lips, not elsewhere classified
ICD-10 online (WHO version 2019)

The Van der Woude syndrome (VWS) is a rare congenital disease of the face with a combination of pits or sinus ( fistula ) of the lower lip and a lip and / or palate .

It is the most common syndromic form of the cleft lip and palate.

Synonyms are: lip pit syndrome; Cleft lip and / or cleft palate with mucous cysts of the lower lip; Lower lip fistulas in an optional combination with crevices; Demarquay Syndrome

The name refers to the author of the characterization of the syndrome from 1954 by Anne van der Woude .

distribution

The frequency is given as 1–9 in 100,000, and inheritance is autosomal dominant in many patients .

root cause

Depending on the mutations underlying the disease , a distinction is made:

  • Type 1 , mutations in IRF6 - gene at locus 1q32.2, which for the interferon -regulating factor 6 coded.
  • Type 2 , mutations in the GRHL3 gene at 1p36.11

Clinical manifestations

The clinical picture is very variable.

Diagnostic criteria are:

Differential diagnosis

In the differential diagnosis, further syndromes with dimples in the lower lip are to be distinguished such as

therapy

For treatment, surgery is performed on the clefts and, depending on the clinic, also on the fistula.

history

The first description comes from the year 1845 by Jean Nicolas Demarquay . Charles Robert Richet (1850–1935) is also mentioned under the synonyms .

literature

  • B. Del Frari, M. Amort, AR Janecke, BC Schutte, H. Piza-Katzer: Van der Woude syndrome. In: Clinical Pediatrics. Vol. 220, No. 1, 2008 Jan.-Feb., Pp. 26-28, doi: 10.1055 / s-2007-971049 , PMID 18095255 .
  • PK Deshmukh, K. Deshmukh, A. Mangalgi, S. Patil, D. Hugar, SF Kodangal: Van der woude syndrome with short review of the literature. In: Case reports in dentistry. Vol. 2014, 2014, p. 871460, doi: 10.1155 / 2014/871460 , PMID 25050184 , PMC 4090536 (free full text).
  • A. Butali, PA Mossey, WL Adeyemo, MA Eshete, LA Gaines, D. Even, RO Braimah, BS Aregbesola, JV Rigdon, CI Emeka, O. James, MO Ogunlewe, AL Ladeinde, F. Abate, T. Hailu, I. Mohammed, PE Gravem, M. Deribew, M. Gesses, AA Adeyemo, JC Murray: Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. In: Molecular genetics & genomic medicine. Vol. 2, No. 3, May 2014, pp. 254-260, doi: 10.1002 / mgg3.66 , PMID 24936515 , PMC 4049366 (free full text).

Individual evidence

  1. ↑ a b 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 d e f Van der Woude syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ A. VAN DER WOUDE: Fistula labii inferioris congenita and its association with cleft lip and palate. In: American Journal of Human Genetics . Vol. 6, No. 2, June 1954, pp. 244-256, PMID 13158329 , PMC 1716548 (free full text).
  4. ^ Van der Woude syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Van der Woude syndrome 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ JN Demarquay: Quelques considerations sur le bec-de-lievre. In: Gazette médicale de France (Paris) , vol. 13, 1845. pp. 52-54.
  7. ^ MO Sigler, J. Stein, R. Zuker: A rare craniofacial cleft: numbers 7, 2, and 3 clefts accompanied by a single median lip pit. In: The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association. Vol. 41, No. 3, May 2004, pp. 327-331, doi: 10.1597 / 02-127.1 , PMID 15151449 .
  8. ↑ Who named it