Chromosome Disorders

Adopt Special Needs: Special Needs - Chromosome DisordersChromosomes are the structures that hold our genes. Genes tell our bodies how to develop and function; they determine our characteristics, such as hair or eye color and blood type. Typically we all have 46 chromosomes, 23 from each parent. Children born with a chromosome disorder may have too many or not enough chromosomes or there may be an abnormality in how the chromosomes formed. Most of these abnormalities are carried in the egg or sperm and are present at conception. Occasionally, however, sometimes there are abnormalities after conception, where some of the cells with contain abnormalities and some will not. Typically, children with a mosaic chromosome disorder will have milder effects.

Special needs in other categories may also be chromosomally related. Below is a list of the most common chromosome disorders seen in children waiting for forever families. We provide the following information for reference purposes only and cannot attest to the accuracy of the information. We highly recommend speaking with an experienced physician for further details on each condition.

Common Chromosome Disorders

Apert Syndrome

Apert SyndromeOther name:

Acrocephalosyndactyly

Apert Syndrome is a genetic disease in which the seams between the skull bones close earlier than normal during prenatal development, affecting the shape of the head and face.The child's head does not develop normally, which can lead to a sunken appearance in the middle of the face, a long head with a high forehead, bulging and wide-set eyes, and an underdeveloped upper jaw which can cause teeth to be crowded and other dental problems. 

Most children with Apert Syndrome have delayed developmental milestones, though this varies from child to child.

Causes:

Apert Syndrome is caused by a rare mutation on a single gene. This mutated gene is normally responsible for guiding bones to join together at the right time during development. In most cases, the Apert Syndrome gene mutation appears to be random. 

Possible Complications:

Abnormal fusion of the bones of the hands and feet, also known as syndactyly -- with webbed or mitten-like hands or feet -- is a common Apert syndrome symptom. Some children with Apert syndrome also have complications involving their heart, gastrointestinal, or urinary systems. Shallow eye sockets can possibly cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.

Treatment:

The main treatment for Apert Syndrome involves surgery to correct the abnormal connections between the bones. Other surgeries can include midface advancement and correction of wide-set eyes, release and repair of fused/webbed digits, palatal closure, ear tubes, speech therapy, and staged orthodontics. Apert syndrome requires highly specialized treatment by a team of craniofacial medical and surgical subspecialists.   

Prognosis:

Studies show that about four in ten children raised in a family environment reach a normal IQ. The earlier that a surgery can be done to release the skull bones, the better the chances for normal intellectual development. A wide variability exists between children with Apert syndrome, with some being mildly affected and others quite severely. Life expectancy also varies greatly depending on the severity of the symptoms and the presence of heart conditions.

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Down Syndrome

Adopt Special Needs: Special Needs - Chromosome Disorders - Down Syndrome
Other common names:
 
Trisomy 21

Children born with Down syndrome have a wide variety of characteristics and medical concerns; however, they typically have distinct features. Some of the most common include a small stature, upward slanting eyes, unusually shaped ears and flattened facial features. They may also have short fingers, excessive flexibility and poor muscle tone. Children with Down syndrome may also meet developmental milestones later than other children and may also have some degree of cognitive delay.

Causes:
Down syndrome is caused when the cells of chromosome 21 do not divide correctly. There are three types of abnormal cell division. All three abnormalities will have extra genetic material from chromosome 21. The exact cause is unknown, but research shows that older maternal age can contribute.

Possible complications:
About half of children born with Down syndrome also have congenital heart defects, hearing, and/or vision issues. They are also at greater risk for obesity, infections, leukemia, sleep apnea and dementia.   

Treatment:
Children with Down syndrome will benefit from a comprehensive treatment plan addressing their health and developmental needs. This may include physical, speech and occupational therapy, as well as care for any medical needs they may have.

Prognosis:
Children with Down syndrome usually meet developmental milestones, but it may take them longer than it does for other children. Early intervention will give a child with Down syndrome the greatest chance for success. As many as 80% of adults with Down syndrome live to age 60 and many live even longer. Children born with Down syndrome are generally able to integrate into society and lead healthy, happy lives.

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Turner Syndrome


Turner syndrome is a chromosomal condition caused by complete or partial absence of the second sex chromosome. The effect that Turner syndrome  has on a child varies greatly; however there are a few common characteristics. Girls born with Turner syndrome typically have short stature (under 5’) and may have high palate, low-set ears, low hairline, webbed-neck, droopy eyes, broad chest, scoliosis, or flat feet. There is generally no difference in intelligence than a person without Turner syndrome; however a person with this syndrome may difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention.

Causes:
Most people are born with two sex chromosomes. A boy inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of the X chromosome is missing or abnormal.

Possible complications:
About one-third of girls born with Turner syndrome also have some sort of heart and/or kidney abnormality. They are also at greater risk for hypothyroidism, ear infections, and Celiac disease.   

Treatment:
The primary treatment for most girls with Turner syndrome involves hormone therapy. They may benefit from receive growth hormones and estrogen therapy. They may also need ongoing medical treatment or monitoring if they have any additional medical needs.

Prognosis:
Many factors can affect the prognosis for a child with Turner syndrome, including the severity of symptoms and additional medical needs. Generally, women with Turner syndrome are able to lead active, healthy lives.

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