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Van der Woude Syndrome

Van der Woude Syndrome



Overview

Van der Woude (van-der-WOOD-ee) syndrome is a rare inherited disorder that affects how a child’s mouth forms in the womb. Children with this condition have sunken or raised pits in their lower lip called lip pits. They may also have an opening in their lip called a cleft lip, or one in the roof of the mouth called a cleft palate — or both. Some of a child’s teeth might not develop.

Healthcare providers sometimes call the condition “lip pit syndrome.” French physician J. Demarquay first described the condition in 1845. It gets its name from Dr. Anne Van der Woude who conducted comprehensive studies about the condition in the early 1950s.

What are a cleft lip and cleft palate?

A cleft lip and palate refers to an opening, or cleft, in the lip and roof of the mouth (palate). It’s a type of birth defect that occurs while a baby develops in the womb. A child may have either a cleft lip or a cleft palate or they may have both conditions.

Cleft lip: The two sides of your child’s upper lip don’t join together. This opening or gap in the upper lip exposes their gums and may affect their gumline.

Cleft palate: There’s a split or opening in the front bony section of the roof of your child’s mouth or the soft back section. Sometimes, the opening affects both sections.

Symptoms

Symptoms of Van der Woude syndrome include:

Cleft lip, cleft palate or both conditions.

Lip pits (depressions) or mounds (raised bumps) on one or both sides of the lower lip.

Moist- or wet-looking lower lip due to salivary or mucus glands that connect to the lip pits.

Missing teeth (hypodontia) or missing teeth enamel (dental hypoplasia).

Causes

Children with Van der Woude syndrome inherit a changed or mutated interferon regulatory factor 6 gene (IRF6) from one parent. We may find additional genes that are connected with this syndrome in the future as further research continues.

IRF6 makes a protein that helps form a child’s head, face, skin and genitals. A mutated IRF6 gene leads to low protein levels. As a result, certain tissues in the face don’t develop as they should.

Risk Factor 

Van der Woude syndrome is an autosomal dominant disorder. A child inherits a copy of the disease-causing mutated gene from one parent. The parent typically has the condition too. A parent who has a gene mutation for an autosomal dominant disorder has a 50% chance of passing it to each of their children. It’s possible (although rare) for a child to inherit the gene mutation and not develop Van der Woude syndrome.

Complications

Some children with Van der Woude syndrome experience:

Developmental delays.

Mild cognitive impairment.

Speech and language delays.

Diagnosis

A prenatal ultrasound can detect a cleft lip and sometimes a cleft palate while your baby is still developing in your womb. Other prenatal tests can detect the IRF6 mutation. These tests include:

Chorionic villus sampling (CVS).

Genetic amniocentesis.

If your baby has a cleft lip, cleft palate or lip pits, your healthcare provider will order a gene test. This blood test looks for the mutation that causes Van der Woude syndrome. You and your partner may also get genetic testing.

Treatment

Children with a cleft lip or palate need surgery to close the gaps. Cleft lip surgery typically takes place when a baby is between 2 and 6 months old. Cleft palate repair takes place later when a child is between 9 and 18 months old.

Your child will also need surgery to remove the lip pits and stop saliva and mucus from flowing to their lip. This surgery may take place at the same time as the cleft lip or cleft palate repair.

Infants with a cleft lip or palate may have feeding difficulties until surgery takes place. You may need to see a dietitian or speech-language therapist. After surgery, a child may need speech therapy to address speech problems.

Regular dental check-ups and proper teeth and gum care are also important if your child is missing teeth or tooth enamel.

Type of Doctor Department : Plastic surgeons, ear-nose-throat (ENT) surgeons, genetic counselors, orthodontists, and pediatric dentists


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