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At a glance

Inherited developmental disorder characterized by pits of the lower lip and cleft lip or cleft palate. It is the most common Cleft Lip/Palate Syndrome.

Synonyms

Cleft Lip and/or Palate with Mucous Cysts of Lower Lip; Lip-Pit Syndrome; Lip-Pit-Cleft Syndrome.

History

Congenital genetic disorder first studied by A. Van der Woude in 1954.

Incidence

1:70,000 live births.

Genetic inheritance

Autosomal dominant. Mutation of the IRF6 gene on 1q32-q41.

High penetrance and variable expression.

Pathophysiology

Caused by mutations in the gene encoding interferon regulatory factor-6 located on 1q32-q41; allelic to Popliteal Pterygium Syndrome. Clinical expression is highly variable from one individual to another.

Diagnosis

Clinically evocated in patients with cleft lip or palate and mucous cysts of lower lip. Lip-Pit Syndrome is the most common manifestation present in 90% of the affected. The cleft of lip and palate occur in 21%.

Clinical aspects

Generally, concerns only head with lower lip pits (corresponding to accessory salivary glands), cleft lip, cleft palate, cleft uvula, and hypodontia. Lower lip pits removed with vertical wedge excision.

Precautions before anesthesia

Evaluate the airway (clinical, radiographs) and teeth mobility.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation can be difficult due to Cleft Syndrome. Teeth lesions can occur more frequently. Rarely syngnathia (adhesions between upper and lower jaws) or intraalveolar synechiae.

Pharmacological implications

Avoid muscle relaxants until confirmation that face-mask ventilation is possible or airway is secured.

Other condition to be considered

  • Popliteal Pterygium Syndrome: Association of cleft palate with or without intraoral fibrous bands, webbing at the level of popliteal fossa and abnormalities of external genitalia. Potentially difficult endotracheal intubation, beware of spina bifida occulta.

References

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Guner  U, Celik  N, Ozek  C,  et al: Van der Woude syndrome. Scand J Plast Reconstr Surg Hand Surg 36:103, 2002.  [PubMed: 12038200]
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Ryns  JP, Devriendt  K: On the nosology of van der Woude syndrome and popliteal pterygium syndrome: Implications for genetic counseling. Genet Couns 11:59, 2000.  [PubMed: 10756431]
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Svee  A, Frykholm  P, Linder  A,  et al: Early release of interalveolar synechiae under general anesthesia through fiberscopic nasal intubation. J Craniofac Surg 23:e299, 2012.  [PubMed: 22801158]
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van der Woude  A: Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet 6:244, 1954.  [PubMed: 13158329]

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