Cleft Lip and Palate

Introduction and Contracting

Review Medical History

(fill out remainder of intake and verify info)

Family History

(verify pedigree if we have one in his mother's chart or make a new one)

• Be sure to include:
  • cleft lip and palate
  • heart defects
  • birth defects
  • learning difficulties
  • intellectual disability
  • miscarriages
  • early deaths
  • consanguinity

Inheritance and Recurrence Risk

• If neither parent has a cleft than the inheritance is probably either multifactorial or recessive and these are not distinguishable usually
• multifactorial -- combination of genes and environment
• approximately 3-5% chance of having another similarly affected child this is 20-35 fold increase over baseline
• (this risk increases more if the couple have more than one affected child)

Multifactorial Risks of Cleft Lip/Palate

• recurrence also influenced by how severe the cleft is 5.6% for bilateral lip/palate, 4.1% for unilateral lip/palate and 2.6% for cleft lip without cleft palate
• if it can be established that there are no other affected relatives, the risk to siblings (2.2%) is less than the overall risk (4%).
• The higher figure should be used if the history is unreliable or unavailable.
• If there is a third first degree relative than autosomal dominant or recessive inheritance should be considered.
• recessive inheritance
  • both parents contribute the same recessive gene to affected child
  • recurrence risk 25% or 1:4
  • gene not mapped
• Autosomal dominant -THIS IS WHAT WAS COUNSELED FOR THIS FAMILY
  • usually one parent will also have cleft
  • risk of recurrence is 50% or 1:2
  • gene mapped to short arm chromosome 6
  • X-linked recessive
  • pattern seen sometimes with clefting of the secondary palate or bifid uvula
  • x-linked recurrence risks
  • in one of these families from Iceland the single gene has been mapped to the long arm of chromosome X
• Association with a syndrome or collection of physical findings which run together in the same person, and for the most part are seen in all individuals who have that syndrome
  • Syndromes are more common in cleft palate alone than in cleft lip with or without cleft palate, but can occur in any of these
  • Syndromic clefts are commonly inherited as single gene defects, but they can be due to changes in the baby's chromosomes, something used during pregnancy or a sporadic change

Prevalence of Clefts

• 1:700 live births over 5,000 in US each year
• between 1/5000 and 1/1000 for cleft lip and/or cleft palate, and about 1/2500 for cleft palate alone
• more common among Asians 1: 500 and certain groups of American Indians 1:300 than among Caucasians 1:800
• occur less frequently among African-Americans 1: 2000
• Cleft lip and cleft palate together are more common in boys 3:2 ratio

Cleft Repair

• cleft lip-- usually be repaired in the first few months of life-- for most infants with cleft lip alone, the abnormality can be repaired within the first several months of life (usually when the baby is 10 to 12 pounds)
• cleft palate repairs are usually done between the ages of 9 to 18 months, but before the age of 2
• exact timing of these repairs depends on the baby's health and considerations of his or her future development and will be decided by surgeon

Other Possible Complications

Psychosocial Assessment

• Having a baby can be pretty stressful especially when there are complications. How are you handling it?
• Do you have help from your family?
• Have you explained any of this to your friends or family?
• Is the father of the baby involved in any way?
• How is that?
• Are you attending school?
• Working?
• The surgeries and treatment can get pretty expensive do you have health insurance coverage?
• Other financial assistance?

Financial Assistance

• Health insurance will pay for all or part of the necessary care
• may qualify for BCMH
• would probably qualify for WIC

Psychosocial Concerns

• Initial shock and adjustment for the family
• Often a period of mourning the anticipated child and the situation
• Possibility of mother interacting differently and interacting less with infants with anomalies
• Guilt - nothing you could have done to prevent or cause this
• Feelings of concern, anxiety, and grief are not unusual
• mothers of babies with clefts report more stress and more concerns about their competence as parents than mothers of healthy babies
• reproductive plans generally unaltered by birth of child with cleft
• later challenges as the child grows

References

• Kummer, A.W. Cleft Palate and Craniofacial Anomalies Effects of Speech and Resonance. 2001. Thomson Learning Inc.

Patient Resources

see attached

Differential Diagnosis

• Van der Woude Syndrome
• among most common syndromic causes of CL/P may be responsible

for up to 3%

• AD disorder gene mapped to long arm chromosome 1
• presence of pits of the lower lip and cleft lip, cleft palate,

or both

• may also have neonatal teeth and missing teeth
• development usually normal speech difficulties related to

cleft palate

Cleft Related Genetic Syndromes/Diseases

The following table was extracted from a table on Embryogenesis by Dr. Harold C. Slavkin; Director, National Institute of Dental & Craniofacial Research (NIDCR)

Notes

1. CS; cytoskeletal protein, ECM; extracellular matrix protein; ENZ; enzyme, IS, intracellular signalling protein, NP; nuclear protein, SEC; secretory protein, TM; transmembrane protein, TF; transcription factor, UNK; unknown
2. AD; autosomal dominant, AR; autosomal recessive, X; X-linked, XD; X-linked dominant, XR; X-linked recessive
3. The following description is only a summary of the craniofacial features of the diseases and disorders. For detail information regarding defects in other affected tissues and organs, refer to the Online Mendelian Inheritance in Man (OMIM) at

• The information in this outline was last updated 2002.