Cleft lip and palate

Cleft palate is the most typical malformation of this kind in Finland. The extent of the cleft varies, but it always runs along the centerline of the palate. Cleft palate is the most common type among girls, while other types of cleft are more common among boys.

Submucous cleft palate  

A submucous cleft palate is a condition where the cleft is covered by a mucous membrane. Because the roof of the mouth looks intact, the only visible indications of a submucous cleft palate are a split uvula and a translucent line along the centerline of the palate. A submucous cleft palate does not always require surgical treatment.

Cleft soft palate  

A cleft soft palate is a cleft only at the back of the mouth, extending along all or part of the soft palate.

Cleft hard and soft palate  

This is the most common type of cleft palate, where the cleft, though variable in length, extends from the soft palate (at the back of the roof of the mouth) to the hard palate (at the front).

Both a cleft lip and a cleft lip and alveolus may vary in their extent and may occur on only one side or on both sides.

Cleft lip 

A cleft lip may vary in extent and may occur on only one side or on both sides. The mildest cases present only as a tiny dent at the site of the cleft, while the most severe cases can cause substantial asymmetry not only in the lip but also in the nostril on the side of the cleft. The bone structure, however, is unaffected in all cases.

Cleft lip and alveolus 

A cleft lip and alveolus extends across the lip and gums. It may be unilateral (on one side only, 2B), or bilateral (on both sides, 2A). A unilateral cleft lip and alveolus may, at its mildest, be similar in appearance to a simple cleft lip, but a cleft alveolus always includes an abnormality of the bone structure of the dental arch at the site of the cleft. In a severe case of cleft lip and alveolus, the cleft may be broad and extend to the nose and upper dental arch.

A cleft lip/palate may be of variable extent across the lip, gums and palate. It may be bilateral (on both sides) or unilateral (on one side).

A unilateral cleft lip and palate (Figure 1) often presents with significant asymmetry in the area of the nose, lip and upper dental arch.

With a bilateral cleft lip and palate (Figure 2), the central part of the upper jaw and upper dental arch is twisted up and forward. The tip of the nose is flat and broad.

The Pierre Robin sequence is a syndrome whose features include cleft lip and palate, a small jaw and breathing problems. The small jaw causes the tongue to fall back into the throat, constricting the airway. Breathing is difficult particularly when the infant is lying on his/her back. The infant also has excessive trouble breathing when feeding and gets tired quickly, hence not being able to eat enough.

If an infant is found to have a cleft palate and a small jaw, then breathing and weight development must be monitored. Oxygen saturation in the infant’s tissues can be monitored at the hospital or with an oximeter at home. Blood carbon dioxide levels can be measured with laboratory tests. If even a slight breathing problem is suspected, we recommend a test of breathing while sleeping, using polysomnography.

With mild breathing problems, positioning may be sufficient treatment (i.e. placing the infant in a prone or side position for sleeping); but in severe cases breathing may need to be assisted with nose tubes, a device in the mouth to push the tongue forward, surgically attaching the tongue to the lower gums or, in extreme cases, an opening made in the windpipe (tracheostomy). A nasogastric tube (from nose to stomach) may be needed as a temporary feeding aid.

An infant may initially seem normal and then develop breathing problems at 3 to 4 weeks. This usually corrects itself within a few months. 

Hemifacial microsomia is the second most common facial birth defect after cleft lip/palate. Its incidence is estimated to be from 1 in 3,500 to 1 in 5,600.

A typical case of hemifacial microsomia presents as bilateral or unilateral skewing of the jaw, a malformation of the ear, ear canal or inner ear, and facial soft tissue deficiencies.

In such a case, the infant may also have a lateral cleft at the corner of the mouth or, more rarely, a cleft lip or cleft lip and palate.

CATCH-22 syndrome gets its name from an acronym:

• C, cardiac: structural malformation in the heart, or heart defect;
• A, abnormal facies: malformations of the face typical for this syndrome;
• T, thymus; hypoplastic, underdeveloped, thymus, one of the endocrine glands;
• C, cleft: generally a cleft palate;
• H, hypoparathyreosis: decreased function of the parathyroid gland.

The number 22 refers to the cause of the syndrome, a microdeletion in chromosome number 22.
Symptoms and findings vary widely. Slight delays in speech development along with learning difficulties are also typical of this syndrome. Its incidence is estimated to be from 1 in 4,000 to 1 in 5,000.

In Finland, a couple of children are born with van der Woude syndrome each year. The syndrome typically presents with cleft lip and/or cleft palate, and two pits or sinuses on the center line of the lower lip. Sometimes these lip pits are the only visible symptom of the syndrome.

The syndrome is a dominantly inherited disorder. The lip sinuses may be surgically treated if they secrete mucus or are cosmetically intrusive.