Symptoms and diagnosis of cleft lip and palate

Cleft lip and cleft palate is cause due to improper fusion of the facial tissues in the middle. It affects one in 700 babies.

There may be just a cleft in the upper lip or the cleft may affect the palate or the roof of the mouth as well. Cleft lip and/or palate often coexists with other birth defects as well.

Symptoms of cleft lip and palate

Cleft lip may be mild with just a notch in the upper lip or may it be severe causing a big gaping hole connected with the nostril.

If one side is affected it is termed unilateral cleft lip and if both sides are affected it is called bilateral cleft lip. It may be an incomplete cleft lip affecting only the lip or a complete one affecting the lip as well as the alveolar arch that is the upper jaw that holds the teeth sockets.

Cleft palate may affect only the front part of the hard roof of the mouth or the hard palate of involve the back part as well called the soft palate near the throat.

A cleft palate alone, without accompanying cleft lip, is difficult to spot at first and may be noticed much later after birth especially if it is small.

Symptoms of cleft lip and palate in babies

There may be difficulties in feeding and growth in the baby with cleft lip and palate. Those with cleft lip alone have fewer problems with feeding than those with cleft palates who might be unable to suck properly.

Commonly babies with cleft palate may gag, choke, or aspirate the milk while sucking.

Babies with cleft palates are at higher risk of infections of the middle ear. The clefts lead to building up of fluid in the middle ear leading to loss of hearing.

Permanent hearing loss may be avoided by appropriate timing of surgical correction of the clefts.

Symptoms of cleft lip and palate in children

• Children with cleft lips may or may not have too much difficulty with speech. However those with cleft palates may have difficulty in pronouncing certain sounds and have speech and language delays.

Certain consonants like p, b, t, d, k, g, f, v, s, z, sh, ch are especially difficult to pronounce for these children. In these children the words might sound nasal.

After cleft-palate repair, most children eventually develop normal speech, although some need speech therapy or additional surgery.

• Children with complete cleft lips have special dental problems. They may have missing milk or primary teeth or those if present may be abnormally shaped, or out of position. Those with complete cleft palates may also miss teeth.
• Psychological impact of cleft lip/palate - A cleft lip or palate can have a psychological impact on both child and parents. Parents may suffer from denial, anger or guilt and the child suffers from a low self-esteem. Psychological support and counselling may sometimes be required. (1-5)

Diagnosis of cleft lip and palate

Diagnosis of cleft lip and palate may occur during pregnancy or after birth.

Diagnosis of cleft lip and palate during pregnancy

Cleft lips and palate may be detected using scanning during pregnancy. This is called antenatal diagnosis. The anatomy of the baby is scanned using ultrasound examination at 18 to 20 weeks of pregnancy.

Occasionally a cleft is not picked up on the scan because the face is not visible on the scan. Cleft palate without cleft lip is difficult to detect by antenatal scans.

Counselling may be needed once this birth defect is detected and parents must be reassured that surgery would be able to correct the defect. (3)

Sometimes cleft lip and palate is associated with other syndromes and genetic birth defects. This includes:

• Pierre Robin's syndrome
• Apert's syndrome
• Goldenhar syndrome
• DiGeorge's syndrome

The DiGeorge's syndrome is associated with congenital heart defects, abnormalities of the large blood vessels around the heart, defects in the esophagus and clefts etc. Other associated syndromes include Edwards' syndrome, Patau's syndrome and Van der Woude syndrome. (4)

Diagnosis of cleft lip and palate after birth

Diagnosis may be made at birth using complete physical examination by the physician. Since many of the associated syndromes show defects in the genes and chromosomes, a chromosomal analysis is suggested for the baby.

Diagnosis of associated problems like feeding problems, hearing loss, ear infections, speech defects and teething problems is also important in treatment of cleft lip and/or palate. (5)