Inherited developmental disorder characterized by pits
of the lower lip and cleft lip or cleft palate. It is the most common cleft
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip;
Lip-Pit Syndrome; Lip-Pit-Cleft Syndrome.
Congenital genetic disorder first studied by A. Van der
Woude in 1954.
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.
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%.
Generally concerns only head with lower lip pits
(corresponding to accessory salivary glands), cleft lip, cleft palate, cleft
uvula, and hypodontia.
Evaluate the airway (clinical,
radiographs) and teeth mobility.
Direct laryngoscopy and tracheal
intubation can be difficult because of cleft syndrome. Teeth lesions can
occur more frequently.
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
van der Woude A: Fistula labii inferioris congenita and its association
with cleft lip and palate. Am J Hum Genet 6:244, 1954.