Overview
Both cleft lip and palate are birth defects, which usually occur due to lack of tissue development. A cleft lip or cleft palate is the opening seen in the upper lip of the baby or roof of the mouth at the time of the birth. In general, patients with clefts have a deficiency of tissue and not merely a displacement of normal tissue. It is a congenital abnormality (birth defect) which occurs when the fetus develops in the uterus. About 1 in every 1,600 babies is born with cleft lip with cleft palate in the United States. About 1 in every 2,800 babies is born with cleft lip without cleft palate in the United states. Patients having a family history of cleft lip or palate are usually at higher risk of developing this condition. Cleft lip and palate are likely to be seen in the babies of pregnant women who drink alcohol, smoke cigarettes or have diabetes.
What is cleft lip
The lips form between week four and seven of pregnancy. From each side of the head the tissue joins together at the face center to form our lips and mouth. When there is failure in joining of this tissue it leads to cleft lip formation. It is a birth defect that results in a unilateral or bilateral opening in the upper lip between the mouth and the nose. It is also called harelip. It is a wedge-shaped defect resulting from failure of two parts of the lip to fuse into a single structure. The cleft lip can be either unilateral cleft lip or bilateral cleft lip.
What is cleft palate
Between week six and nine of pregnancy the roof of the mouth develops in the fetus. Cleft palate is a birth defect characterized by an opening in the roof of the mouth caused by a lack of tissue development. The cleft palate can involve soft palate ( it is the soft back part of the roof of the palate.) and can also involve hard palate ( it is the bony front part of the palate.)
As the development of lip and palate occur at two different time, it is possible to have a:
- Cleft palate without cleft lip
- Cleft lip without cleft palate
- Both cleft palate and cleft lip ( most common to occur)
Causes of cleft lip and cleft palate
- Hereditary: It is one of most important factors to be considered in the causing factor of the cleft lip and palate. Usually patients having a family history of cleft lip and palate and at high risk of developing cleft lip and cleft palate
- Genetics: the main possible mode of transmission is by a single mutant gene; producing large effect or by number of genes ( polygenic inheritence), each producing small effects which together create this condition
- Nutritional deficiency: Riboflavin deficient diet can produce cleft palate and cleft lip
- Developmental: Physiological, emotional and traumatic stress during developmental stages
- Defective vascular supply: Defective vascular supply to the area can lead to ischemia, which in turn may lead to cleft formation
- Mechanical disturbances: Here, the size of tongue may prevent union of the parts(what parts?) at the time of development
- Others: Cleft lip and palate are likely to be seen in the babies of pregnant women who drink alcohol, smoke cigarettes or have diabetes. Steroid therapy during pregnancy can also lead to this condition
- Being obese
- Infection
- Substance abuse
- Vitamin deficiency, such as like folic acid.
- Birth disorders like Pierre Robin syndrome and DiGeorge syndrome.
Signs and symptoms of cleft lip and cleft palate
- Most commonly it is seen in males as compared to females. But incidence of cleft palate without cleft lip are commonly seen in females more in comparison to males
- Cleft lip is more frequently seen on the left side than on the right side.Cleft lip of the left side formes 70% of cleft lip cases
- Clefts of low lip or jaw are rare to occur
- Appearance of a typical patient with cleft lip or cleft palate will exhibit a large defect with a direct opening in the nasal cavity
- There are also disturbances seen in the dental structures such as teeth are missing in this region, teeth are deformed, teeth may be displaced or divided, thus producing supernumerary teeth
- Patients may also be presented with difficulty in sucking
- Patient also noticed defective speech particularly while pronouncing letters like B, F,M,P and V
- Patients with cleft palate experience difficulties in eating and drinking due to regurgitation of food and liquid through the nose. The speech problem is serious which tends to increase due to mental trauma
- There is also a defect in smelling which is seen in the patient of cleft palate, it is due to contamination of the nasal mucous membrane with the oral organism through the cleft palate
Diagnosis
Most cleft lips are diagnosed with the help of the prenatal ultrasound, because there are visible physical changes seen in the fetus’s face due to the cleft of the lip.
Only 7% of the isolated cleft palate that is without cleft lip can be diagnosed during the prenatal ultrasound as it is very difficult to see.
A physical examination of the palate, mouth and nose is done at time of birth to diagnose cleft lip or palate if a cleft has not been detected before birth in an ultrasound.
In some cases, amniocentesis may be recommended by your healthcare provider in order to check for other genetic conditions. Amniocentesis is the procedure in which the amniotic fluid is removed from the amniotic sac, it helps in the diagnosis of other congenital disorders.
Risk factors
Hereditary is one of the most common risk factors in the case of cleft lip and cleft palate. The child with family history of clefts are usually more prone to be born with cleft lip with or without cleft palate.
The other risk factors includes:
- Smoking at the time of pregnancy
- Drinking alcohol during pregnancy
- Obesity during pregnancy
- Deficiency of folic acid at time of pregnancy.
- Having diabetes during pregnancy.
Complications
Variety of challenges are faced by the children having cleft lip with or without cleft palate, which depends on the severity and type of the clefts. Some of these complications are:
- Difficulty feeding: feeding is one of the most immediate concerns after birth. Babies with cleft lip can breast-feeding, but the babies born with cleft palate may have difficulty in sucking
- Dental problems: Tooth development may be affected if the cleft extends through the upper gum
- Hearing loss and Ear infection: babies born with the defect of cleft palate are usually at higher risk to develop hearing loss and middle ear fluid
- Speech difficulties: for the formation of sound palate is used, hence when there is defect in palate it also affects the development of normal speech. The speech may sound too nasal
- Challenges of coping with medical conditions: children having clefts usually face social, behavioral and emotional problems due to differences in their appearance and also due to the stress of intensive medical care
FAQs
Can cleft lip and cleft palate be prevented
Many cases of cleft lip or cleft palate can’t be prevented, but some steps can be taken to lower the risk, such as:
- Take prenatal vitamins: one should ask their doctor if they should take prenatal vitamins if they are planning to get pregnant soon
- Don't use tobacco or alcohol: there is an increase in risk of having a baby born with a birth defect due to the use of alcohol or tobacco during pregnancy
- Consider genetic counseling: if someone has a family history of cleft palate or cleft lip they should inform their doctor before their pregnancy. The patient may be referred to a genetic counselor by their healthcare provider who can help them in determining the risk of having children born with the congenital defect like cleft lip or cleft palate
How common is cleft lip and cleft palate
About 1 in every 1,600 babies is born with cleft lip with cleft palate in the United States. About 1 in every 2,800 babies is born with cleft lip without cleft palate in the United states.
Is cleft lip and cleft palate genetic
Hereditary is one of the most common risk factors in the case of cleft lip and cleft palate. The child with family history of clefts are usually more prone to be born with cleft lip with or without cleft palate.
When should I see a doctor
The defect of cleft lip and cleft palate are easily noticeable at the time of the birth by doing physical examination of mout, nose and palate. The doctor may coordinate with the parents.
Summary
Cleft lip and cleft palate is a congenital defect. Patients having a family history of clefts are usually at high risk of having clefts at time of birth. There are many other factors as well like smoking or drinking alcohol, folic acid deficiency, diabetes or having obesity at time of birth. The child is born with a cleft having difficulties in speaking, smelling and sucking. The dentition of the child is also hamper. Unfortunately it is not preventable but one can reduce the risk of cleft lip and cleft palate by following some steps mentioned above.
References
- ‘Cleft Lip and Cleft Palate: Causes, Diagnosis & Treatment’. Cleveland Clinic, https://my.clevelandclinic.org/health/diseases/10947-cleft-lip-cleft-palate.
- ‘Cleft Lip and Cleft Palate - Symptoms and Causes’. Mayo Clinic, https://www.mayoclinic.org/diseases-conditions/cleft-palate/symptoms-causes/syc-20370985.
- Vyas, Tarun, et al. ‘Cleft of Lip and Palate: A Review’. Journal of Family Medicine and Primary Care, vol. 9, no. 6, June 2020, pp. 2621–25. PubMed Central, https://doi.org/10.4103/jfmpc.jfmpc_472_20.