1p36 Deletion Syndrome

A chromosomal abnormality, 1p36 deletion syndrome, is a serious congenital defect that can be diagnosed through amniocentesis; however, parents who forgo this testing may not find out about the child's condition until well into the child's first year of life. This condition is thought to affect one out of every 5,000 to 10,000 births, although Genetics Home Reference notes that the syndrome may be more common because of undiagnosed cases.

Facial Features

A child suffering from this syndrome usually has a wide and short head. Facial features include short and narrow eye openings, deep set eyes, flat nose, pointy and small chin, down-turned mouth, and cleft lip and/or palate. In some cases, the middle of the face are undeveloped, which makes the eyes protrude and the nose appear sunken.

Behavior Concerns

Temper tantrums, autistic behaviors, self-injury episodes and other violent behavior outbursts are common in children with 1p36 deletion syndrome. These can sometimes be controlled by using water therapy or equine therapy; however, treatment success is dependent upon whether or not the child enjoys the therapy activity.

Congential Hypotonia

Many children with 1p36 deletion syndrome suffer from a lack of muscle tone, or congenital hypotonia. This makes feedings and other activities difficult. The difficulty feeding can lead to failure to thrive problems or difficulty gaining weight. Developmental delays, such as late walking or failure to walk, are also common.

Brain Function

The brain is usually affected by this syndrome. Seizures are common, but may be treated successfully with anti-seizure medications. Hydrocephalus, or too much brain fluid, as well as cerebral atrophy, are also common. Some children with 1p36 deletion syndrome will also suffer from overresponsive reflexes. These children often respond abnormally to light touches and may suffer from 'tics' or involuntary movements of the arms, legs, head or vocal cords.

Cancer Risk

There is evidence that children with this syndrome are more likely to develop tumors than other children. This risk is due to a change in the tumor suppressing genes that are in the same region as the 1p36 chromosome. Some of these tumors may be malignant. An increased risk of other cancers, such as non-Hodgkin lymphoma, ovarian cancer, colorectal cancer, neuroblastoma, prostate cancer and lung cancer is also related to 1p36 deletion syndrome.

Other Health Concerns

Vision problems, difficulty speaking, hearing trouble, heart defects, thyroid disorders, renal abnormalities and abnormal growth patterns are all concerns of children with this condition. Some male children also suffer from genital abnormalities, such as scrotum shawl, micropenis and cryptorchidism.

Conclusion

Caring for a child with 1p36 deletion syndrome requires the care of a specialized team of doctors. The child is likely to need numerous surgeries and may be subject to long and frequent hospital stays.

Sources:
http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome
http://www.1p36.org/
http://www.orpha.net/data/patho/GB/uk-1p36.pdf