Down Syndrome
Description of Down Syndrome
Down syndrome, also known as Trisomy 21 due to the presence of a third twenty-first chromosome, is one of the most common and well known birth anomalies. One in every 650 children born will be effected by this syndrome.
Characteristics of Down Syndrome
Some of the facial features which identify an individual as having Down syndrome include:
- Low set ears
- Up slanting palpebral fissures
- Low nasal bridge and dorsum
- Abnormal and excessive facial fat distribution
- Protruding, enlarged tongue
Causes
Down syndrome is caused by an error that occurs during the formation of the twenty-first chromosome. Its occurrence is sporadic and the parents are usually unaffected. The risk for future children conceived by the same couple is minimal. Although patients with Down syndrome have a reported reduced fertility rate, those who are able to reproduce have a 50% chance of having a Down child.
Expectations and Treatment
Both prenatal and postnatal growth deficiencies can exist in the Down patients. They often exhibit a short stocky stature and also have delayed growth of the brain resulting in a reduced mental capacity. The extent to which they are intellectually deficient varies from patient to patient. Although there have been many advances in the medical care of these patients, the life expectancy of a patient with Down syndrome is 35 years of age.
Although the craniofacial manifestations of this syndrome may not be medically threatening, the psychological aspect of these anomalies can be harmful. Due to the similar appearance of those with this syndrome, they tend to resemble each other rather then their respective families. With this in mind, the goal of the reconstruction of these malformations is to increase the resemblance of these patients to their families.
Treatment of the anomalies associated with this syndrome include a surgery to correct the eye slant and to remove the skin folds from the inner corners of the eyes. These patients usually require nasal surgery to augment and increase the projection of their nose. In addition, some of the fat in their cheek can be removed to reduce the fullness of their face. It may also be necessary to reduce the size of their tongue to increase its mobility and improve their speech.
Surgical Treatment for Down Syndrome
At the International Craniofacial Center, we specialize in craniofacial surgery of all types. Sometimes craniofacial surgery involves treatment for Down Syndrome. Down Syndrome children often have abnormalities in facial features that sometimes require craniofacial surgery. Born with small mid-faces, Down Syndrome children may need craniofacial surgery as part of their treatment for Down Syndrome. In these cases, craniofacial surgery can correct the nasal abnormalities and the small mid-faces often seen with these children.
Surgical treatment for Down Syndrome can be cosmetic or medical in nature. Cosmetically, treatment for Down Syndrome may help a child be less noticeable as a Down Syndrome child. With medical therapy, treatment for Down Syndrome may be directed at the sleep apnea often seen in these children. Treatment for Down Syndrome can involve improving the amount of space in the nasal cavity using craniofacial surgery or, in other cases, removing the uvula or part of the palate to improve sleep apnea. Treatment for Down Syndrome can significantly improve these conditions and reduce the risk of the complications of sleep apnea.
Craniofacial Surgery Can Provide Relief
Many people believe that the treatment for Down Syndrome involves treating their mental disabilities alone or that Down Syndrome children need no treatment. For Down Syndrome sufferers, however, treatment for Down Syndrome can involve physical therapy, occupational therapy, and medical therapy and, in some situations, treatment for Down Syndrome involves necessary craniofacial surgery to correct the facial abnormalities that can cause serious consequences if not dealt with.
Parents need to know that treatment for Down Syndrome shouldn’t be taken lightly. Craniofacial surgery can be risky and the outcome uncertain. The child may still have facial features suggestive of Down Syndrome or may not benefit at all from surgical treatment for Down Syndrome. Fears about treatment for Down Syndrome, however, shouldn’t stop a family from obtaining the necessary treatment for Down Syndrome, including craniofacial surgery, if the child needs it.
If there is a problem that needs addressing by means of craniofacial surgery, this kind of treatment for Down Syndrome may be the only way the child can have a normal life. Through craniofacial surgery, the child can look better and breathe easier at night. They can breathe better through their nasal passages as well. Without craniofacial surgery, treatment for Down Syndrome may involve the use of oxygen at night, the use of CPAP (Continuous Positive Airway Pressure) or some other conservative medical management.
