Oral-facial cleft
Overview
A birth defect involving an opening or cleft in the upper lip as well openings or clefts in the soft or hard palate (roof of the mouth).
Symptoms
* Cleft lip * Cleft palate * Feeding problems * Speech problems * Dental problems
Causes
* Cleft lip with or without cleft palate –Incidence 1/500–1/2,500 –Highest incidence among Native Americans –Defects are unilateral in 80% –More common in boys –Pathogenesis is multifactorial * Isolated cleft palate –Incidence 1/2,000 –More common in girls * Pierre-Robin sequence –Micrognathia, glossoptosis (posterior displacement of the tongue to pharynx), and cleft palate –Incidence 1/2,000–1/30,000 –Mortality 2.2–26% * Syndrome-associated cleft lip with or without cleft palate –Accounts for 30% of cases –Over 300 syndromes include this phenotype –Stickler syndrome (25%): Pierre-Robin sequence with severe progressive myopia and arthritis in young adulthood –Velocardiofacial syndrome (15%): Slender hands and fingers, cardiac defects (TOF, VSD, right aortic arch), prominent nose; deletion of 22q11.21 –DiGeorge syndrome: Thymic hypoplasia, hypoparathyroidism, cardiac defects (truncus arteriosus, interrupted aortic arch) same spectrum at velocardial facial with same deletion of 22q –Trisomy 13: Microcephaly, cutis aplasia, polydactyly cardiac defects –Trisomy 18: Low-set ears, clenched hands, rocker bottom feet, cardiac defects –van der Woude syndrome: Cleft palate associated with lip pits * Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency * Fetal alcohol syndrome * Treacher Collins syndrome
Prevention
Pregnant women and women who are likely to become pregnant can do the following to help prevent oral-facial clefts in their unborn children: * Consume 400 micrograms of folic acid daily by taking a multivitamin or eating foods containing folic acid, such as: o Fruits and orange juice o Green leafy vegetables o Dried beans and peas o Pasta, rice, bread, flour, and cereals * Do not smoke or drink alcohol during pregnancy. * Take medications during pregnancy only as directed by your doctor. * Get early and regular prenatal care. * If you are thinking about having a child and have risk factors for oral-facial cleft: o Seek medical advice on additional ways to prevent the disorder. o Consider genetic counseling.
Diagnosis
A doctor can diagnose cleft lip or cleft palate by examining the newborn baby. A newborn with an oral-facial cleft may be referred to a team of medical specialists soon after birth. Rarely, a partial or “submucous” cleft palate may not be diagnosed for several months or even years. Cleft lip and palate are sometimes associated with other medical conditions. Your doctor should be able to tell you whether or not your child’s clefting is part of a “syndrome.” Some syndromes may require treatment in addition to taking care of a cleft lip or palate. Prenatal diagnosis (diagnosis prior to birth) can also be accomplished using ultrasound examination. Cleft lip is more easily diagnosed via prenatal ultrasound than is cleft palate. Diagnosis can be made as early as 18 weeks of pregnancy. Prenatal diagnosis gives the parents and the medical team the advantage of advanced planning for the baby’s care.
Treatment
o Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect –Specialized bottles and nipples may be required to accomplish adequate feeding * Surgical correction (usually in 2–4 stages) with surgical priorities being prevention of regurgitation and aspiration, enabling of speech production, and cosmetic result –In patients with delayed surgical correction, a prosthesis may be necessary to compensate for velopharyngeal insufficiency and to enhance speech development –Speech therapy –Monitoring for otitis media –Referral to a geneticist for genetic testing and consideration of risk with subsequent pregnancies