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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.
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Cleft Lip and/or Palate with Mucous Cysts of Lower Lip;
Lip-Pit Syndrome; Lip-Pit-Cleft Syndrome.
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Congenital genetic disorder first studied by A. Van der
Woude in 1954.
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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.
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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%.
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Generally concerns only head with lower lip pits
(corresponding to accessory salivary glands), cleft lip, cleft palate, cleft
uvula, and hypodontia.
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Evaluate the airway (clinical,
radiographs) and teeth mobility.
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Direct laryngoscopy and tracheal
intubation can be difficult because of cleft syndrome. Teeth lesions can
occur more frequently.
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Avoid muscle relaxants until
confirmation that face-mask ventilation is possible or
airway is secured.
Guner U, Celik N, Ozek C, et al: Van der Woude syndrome. Scand J Plast Reconstr Surg Hand Surg 36(2):103, 2002.
Ryns JP, Devriendt K: On the nosology of van der Woude syndrome and
popliteal pterygium syndrome: Implications for genetic counseling. Genet Couns
11(1):59, 2000.
van der Woude A: Fistula labii inferioris congenita and its association
with cleft lip and palate. Am J Hum Genet 6:244, 1954.