Your syndrome is as important to us as it is to you.

Craniofacial Syndrome: Down

Present at birth, Down syndrome is a chromosomal disorder. Down syndrome is the most common congenital syndrome, occurring with a frequency of one in 650 to 1,000 live births.

Individuals with this syndrome are typically characterized by the following differences:
• flat, round face with small chin
• upward slanting eyes with skin folds on inner corners
• white spots on the eyes (iris)
• low nasal bridge
• protruding, enlarged tongue
• low-set ears and hearing problems
• abnormally placed, extra fat
• short, stocky stature
• poor muscle tone and lax joints
• small feet and hands, with single crease (instead of double) on one or both palms
• large space between big and second toes
• heart defects
• reduced fertility
• reduced mental capacity
• shortened life expectancy (currently about 35 years of age)

Treatment may include eye surgery, nasal surgery, facial fat reduction, tongue reduction and speech therapy.

Although some treatments will improve airflow, speech and sleep, craniofacial manifestations of this syndrome may not be medically threatening. For this reason, surgery to alter the appearance of Down syndrome patients is sometimes considered controversial. Treatment may reduce the severity of the common manifestations of Down syndrome and may also be psychologically beneficial – enabling the child to resemble his or her own family. The decision to pursue treatment is, as always, one the family makes after discussion with their doctor and other specialists.

Down syndrome was named for British doctor, John Langdon Down (1828-1896), who first described it in the 1860s.

Down syndrome is also known as Trisomy 21.

What Happened?

In 1959, Jerome Lejeune determined the cause of Down syndrome. It is the result of a mutation occurring during the formation of the 21st chromosome – instead of dividing in two, it divides into three, resulting in an extra copy (in full, or in part) of this genetic material.

Down syndrome is caused by a gene alteration, which is sporadic. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Down syndrome. However, her age influences the chances of conceiving a baby with Down syndrome. Notable differences have been marked with increases in probability at age 35 and higher, and again at age 45 and higher. Recent research suggests that older fathers (especially over age 42) increase probability for Down syndrome offspring in older mothers.

If neither parent has Down syndrome, their chances of having another child with Down syndrome is minimal. It is extremely rare for a male with Down syndrome to father a child. Females with Down syndrome have a reduced fertility rate. If she is able to reproduce, the chance she will have a child with Down syndrome is approximately 50 percent.

What to Do?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.

We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.

Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.

In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.