Case: You are the pediatrics resident covering the birth rooms at night. A full term baby is delivered and is noted to have cleft lip and palate. What do you do? What do you say to the parents?

1. Epidemiology
1. 1/700 overall incidence for facial clefting (not rare)
2. Cleft lip +/- cleft palate (CL/P) clusters in families distinct from isolated cleft palate (CP) (different embryology -- see below)
3. Clefting more common in Asians (1/400) and less common in African American (1/2000)
4. Clefts can be unilateral or bilateral; Left side more common for unilateral
5. Syndromic clefting (pattern of multiple anomalies) accounts for 50-60% pts
6. Of these, half are known patterns; others simply show multiple anomalies
7. High incidence of congenital heart disease and renal disease -- screen carefully for these
8. Other associated midline abnomalities -- hypopituitarism possible
2. Embryology
 
1. Weeks 5 & 6: Maxillary processes grow medially & fuse with frontonasal process
2. Failure here >> cleft lip +/- primary (anterior) palate
3. Weeks 7 & 8: Tongue descent, migration & fusion of palatal shelves
4. Failure here>> cleft secondary (posterior) palate (Pierre-Robin, & other)
3. Etiologies
 
1. Teratogens: ethanol (FAS), anti-convulsants, steroids, chemo, excess Vita A
2. Maternal / intra-uterine conditions: infant of diabetic mom, amniotic bands 
3. Chromosomal abnormalities, monogenic causes (AR, AD, XL)
4. Unknown
4. Genetic Counseling
 
1. Search for associated anomalies to r/o syndromic clefting (genetics vary)
2. Clues include epicanthal folds, flat facies, lip pits, other major & minor anomalies
3. Isolated cleft carries 4% recurrence risk if no affected family members 
4. 10-15% recurrence risk with another affected first degree relative
5. Diagnosis -- Newborn Physical Exam
1. Inspect lip & oropharynx (cleft soft palate is posterior & harder to see
2. Palpate palate with gloved finger (submucous cleft is not visible, but can be felt in bony palate underlying mucous membrane. This diagnosis is often missed until later childhood when speech problems arise.
6. Parental Counseling
1. One author suggests: "Your baby is healthy. There is a problem with the development of her lip (and/or palate). These problems can be treated surgically..."
2. Involve craniofacial team (in nursery or shortly after discharge)
3. Informational & emotional overload for parents (any congenital condition)
4. On-going, repeated communications crucial
5. Support groups ("About Face," Cleft Palate Foundation)
7. Newborn Feeding
 
1. Isolated cleft lip rarely causes feeding problems
2. Cleft lip & palate or palate alone may require special nipples
3. "Haberman feeder" -- elongated nipple extends past cleft zone; squeeze bottle mechanism decreases need for negative pressure suction from baby
8. Surgical Treatment
1. Cleft lip: "Rule of Tens" -- ten weeks, ten pounds, hemoglobin of 10
2. Cleft palate: around 1 year, before speech develops
3. Subsequent surgical revisions required as child grows
9. Associated Problems in Childhood
1. Frequent OTM, often requires ear tubes
2. Hearing loss (cleft palate)
3. Speech problems, often speech therapy (cleft palate)
4. Dental problems, usually orthodontics
5. Multi-disciplinary cranio-facial teams address child's multiple needs
10. Psycho-social Aspects
1. Appearance is important determinant of society's reward (grades, jobs, income, marital outcomes) per psych literature
2. Kids with clefts do fairly well through childhood.
3. Adolescence is time of increased risk -- anxiety, depression
4. Maintain supportive relationship, refer for counseling / psych eval as needed

1. Czeizel AE, Timar L and Sarkozi A. Dose-dependent Effect of Folic Acid on the Prevention of Orofacial Clefts. Pediatrics. 1999; 104(6):e66.
2. Kaufman, Felix. "Managing the Cleft Lip and Palate Patient." Pediatric Clinics of North America, Vol. 38, No. 5, October 1991, pp. 1127-47.
3. Byrnes A et al. Parental Evaluation of Informing Interviews for Cleft Lip and/or Palate. Pediatrics August 2003