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Cleft lip, cleft palate and Facial clefts

Cleft lip and palate is one of the most common birth defects of lip and mouth cavity. Cleft lip and cleft palate can be either alone or can be combined cleft lip and cleft palate with cleft alveolus. Cleft lip can be one side (unilateral) or both sides (Bilateral). All of these defects are known as ‘Orofacial Clefts’.

Cleft lip

A slit or gap in lip from birth. Defect may be like a slight notch to a big gap. A child with cleft lip looks ugly and there may be speech problems also if gap is very big.

Cleft palate

A slit or gap in Palate (roof of mouth) from birth. Defect may be like a slight notch in Uvula to a big gap in whole palate.
Cleft palate child suffer with feeding problem and thus malnourished. They also suffered with frequent ear infections, respiratory tract infections like pneumonia which may be life threatening, in later life speech problem – they can’t pronounced the words properly, their speech is not understandable. A child with cleft lip and palate can’t go to school properly as his/her speech is not understandable. They are socially neglected.

Cleft palate

A slit or gap in Palate (roof of mouth) from birth. Defect may be like a slight notch in Uvula to a big gap in whole palate.
Cleft palate child suffer with feeding problem and thus malnourished. They also suffered with frequent ear infections, respiratory tract infections like pneumonia which may be life threatening, in later life speech problem – they can’t pronounced the words properly, their speech is not understandable. A child with cleft lip and palate can’t go to school properly as his/her speech is not understandable. They are socially neglected.

Cleft Alveolus (Gum)

A slit or gap in alveolus (Gum) from birth. Defect may be like a slight notch in gum to a big gap. Defects in alveolus causes dental problems.

Facial clefts

A slit or gap in any site of lip from birth which may involve wide area of face including nose, around eye. Defect may be like a slight notch to a big gap. A child with facial cleft looks uglier than simple cleft lip and there may be speech problems also if the gap is very big.

How it occurs

The external human face develops between the 4th and 6th week of embryonic development. The development of the face is completed by the 6th week.

Between the 6th and 8th week, the palate begins to develop. Consequently, this causes a distinction between the nasal and oral cavities. This development is completed by the 12th week.

The structures of the external face are derived from fusion of 5 structures :

  • Frontonasal prominence   -1 
  • Maxillary prominences    – 2
  • Mandibular prominences  -2

Any defect in fusions of these five structures results in oro-facial cleft. 

Type

Cleft lip can be incomplete or complete cleft lip, unilateral cleft lip or bilateral cleft lip with or without cleft alveolus and or cleft palate. Cleft palate can be Isolated (without Cleft lip and alveolus) involving Uvula, Soft palate, Hard Palate.

Facial Cleft  can occur in any aspect of face lower lip, Angle of moth, upper lip, Nose, around eye, lip up to around eye with or without involving nose.

Causes

The exact cause for this defect is often unknown. The probable causes are-

  • Genetic inheritance (Paternal or maternal):    Father or Mother either parent can pass on a gene or genes that cause clefts problems.
  • Chromosomal cause.
  • Environmental pollutions
  • Medicines and chemicals  during pregnancy
  • Phenytoin
  • Phenobarbital
  • Sodium valproate
  • Benzodiazepines 
  • Pain killers 
  • Traditional Medicines like different herbals , Homeopathic medicines,  etc 
  • Diseases of mother during pregnancy like-
    • Diabetes,  
    • Hypertension, 
    • Viral infections, 
    • Bacterial disease etc

 

  • Maternal nutrition during pregnancy 
    • Malnutrition
    • Obesity
    • Lack of Vitamins  and minerals like 
      • Folic acid
      • Vitamin B complexes 
      • Iron
      • Zinc, etc
  • Radiations during pregnancy 
  • Exposure  to various intoxication of parents even before pregnancy
    • Alcohol
    • Tobacco
    • Others
  • Age of parents  (Both early/late paternal and maternal age)
  • Consanguinity ( Parents are cousin /close blood relatives of each other) 
  • Psychological upset of mother during pregnancy. etc.

False beliefs

In many cultures worldwide a cleft lip or palate is thought to represent a sign of evil or wrong-doing on the part of the family or effect of something else like 

  • Solar or Lunar eclipses 
  • Cutting of fish, meat etc during pregnancy
  • Effect of viewing cleft children during pregnancy 
  • Sin
  • Effect of ‘Jinn’ etc.

Many parents may thus be affected with severe guilt. 

But there is no connection of any birth defects with these. Parents did nothing wrong to cause the child’s birth defect.

Prevention

We know ‘prevention is better than cure’.  But in case birth defects there are no specific measures to prevent as the cause is not specific. 

We may still take some measures which may reduce birth defects-

  • Avoid marriage between close blood relatives.
  • Avoid all kind of narcotics.
  • Planed pregnancy and regular check up after pregnancy.
  • Avoid pregnancy before 20 and after 35 years of age.
  • Paternal Age also should be 20-35 years of age.

Cleft Inheritance

  • If just one parent has a cleft, around 2-8% of their children will have a cleft too. In some cases, depending on the specific cause, this can be as high as 50%.
  • If a person is affected as well as their own parent, sibling or existing child, around 10-20% will go on to have children with a cleft. 
  • If both parents were unaffected, it’s around 4% of one effected sibling and up to around 9% of two affected siblings. 
  • The risk of clefts in a biological sibling of a cleft child is 2 to 8 percent, if their parents do not have a cleft. 
  • The risk of clefts in biological siblings and future children increases to 15 to 20% if parents as well as the first two children have clefts.
  • 0.14% risk of being born with a cleft lip and/or palate wit family history of clefts.  
  • 13 to 30% infants the cleft lip and/or palate may be syndromic ( a part of a genetic birth defect syndrome) like ‘Pierre Robin syndrome’, etc. 

Associated Problems

It is said ‘Misfortunes never come singly’.  It is true in case of oro-facial clefts. There may be associated congenital heart diseases, defects in limbs, ear and other birth defects

Diagnosis

To diagnose any birth defects, we have to check natural orifices of new born like Mouth cavity, Ear, Nose, Genitalia, Anal orifice. Cleft lip and facial clefts are externally visible defects.

We may do some investigations like Echocardiography, Complete Blood Count, BT, CT, CXR, etc. in suspected patients and for evaluation of fitness for operation.

Problems with Oro-facial Clefts

  • Looks ugly-Social, Psychological, educational problem. Peoples try to avoid social relationship with these families.
  • Feeding difficulties- Malnutrition.
  • Frequent respiratory tract infections like pneumonia which endangers life.
  • Ear infection –hearing probblem.
  • Speech problem.
  • Dental problem.
  • Economical problem of family and later of him/herself.
  • Untimely death. 

Treatment

Treatment is operation for any kinds of oro-facial clefts if patient is fit for operation. So, such baby should be under supervision of a cleft surgeon just from birth. Surgeon will guide the parents how to feed, how to take care of baby.

Lip:  Treatment at an early age (If possible within one month of age) gives better result if child is fit for operation. But it can be repaired at any age. We usually do it at the age 3 months or more.

Palate: 6-12 months of age for best speech out come. But can operate in any age, there will be improvement of speech.

Cleft Nose repair and correction of Secondary deformities of Repaired Clefts: 4-5 years

Gum : Alveolar Bone Graft.   2-5 years (alloplastic Bone graft), 5-8 years (Autologus bone graft)

Speech Treatment/Therapy

From the age of 3 years, but can be given earlier along with behavioral therapy if needed.

Sources

1. www.who.int › genomics › anomalies/en : International Collaborative Research on Craniofacial Anomalies

2. Interrante JD, Ailes EC, Lind JN, Anderka M, Feldkamp ML, Werler MM, Broussard CS. (2017). Risk comparison for prenatal use of analgesics and selected birth defects, National Birth Defects Prevention Study 1997–2011. Annals of Epidemiology; 27(10), 645–653.

3. Saeed BO, Moore MG, Zawahrah H, Tayem M, Kavoosi T & van Aalst JA. (2019). The Influence of Consanguinity on Familial Clefting Among Palestinians. The Cleft Palate-Craniofacial Journal; 56 ( 8), 1072-1079
4. https://www.clapa.com/

5. Rejeev BR, Prasad KVV, Shetty PJ, Preet (2017). The relationship between orofacial clefts and consanguineous marriages: A hospital register-based study in Dharwad, South India. Journal of Cleft Lip Palate and Craniofacial Anomalies ;4(1):3-8.

6. Bille C, Skytthe A , Vach W, Knudsen LB , Andersen AM, Murrary JC and Christensen K. (2005). Parent’s Age and the Risk of Oral Clefts. Epidemiology; 16(3): 311–316
7. Chuang CH, Doyle PE, Wang JD, Chen PC, Lai JN, Chang PJ (2006). Herbal medicines used during the first trimester and major congenital malformations: an analysis of data from a pregnancy cohort study. Drug Saf ; 29(6):537-48,