Proximal 18q-: Health Concerns
This page describes some of the most common health problems that have been reported in people with proximal 18q-. It is important to remember that these concerns do not occur in everyone with proximal 18q-. Also, we do not discuss treatment options or recommendations on this page. It is important that you speak with your team of healthcare providers to make a plan to check for and manage health concerns. In addition, the Chromosome 18 Clinical Research Center has developed Management Guidelines. These documents have more detailed information about the health problems seen in people with proximal 18q-, including how frequently they occur. They also include specific recommendations about checking for health issues.
Lastly, it is important to understand that people with distal 18q- may develop health problems that are not listed on this page. As research on the chromosome 18 conditions continues, we will learn more about what to expect for people with proximal 18q- and how to help them stay healthy and live productive, fulfilling lives.
Babies with proximal 18q- may develop differently in the womb, leading to birth defects. Heart defects are the most common. Different types of heart defects have been reported in babies with proximal 18q-.
Newborns with proximal 18q- may have problems at or shortly after birth. They may have feeding difficulties. For example, they may have problems latching onto the breast or bottle. They may also have problems coordinating the suck-swallow motion that is required to nurse. Some infants may vomit frequently after eating.
Infants with proximal 18q- may also have jaundice. Jaundice is a build-up of bilirubin in the baby’s blood, leading to a yellowish color of the skin and eyes.
Lastly, some infants with proximal 18q- have breathing problems shortly after birth.
People with proximal 18q- have a higher chance of having changes in their nervous and muscular systems. Many have low muscle tone (hypotonia).
Seizures are a fairly common concern in people with proximal 18q-.
People with proximal 18q- frequently have vision problems. In particular, strabismus and nystagmus can be associated with proximal 18q-. Strabismus occurs when the movements of the eyes are not coordinated with each other. This is frequently referred to as being “cross-eyed”. Nystagmus describes repetitive and uncontrolled movements of the eyes. In addition, near-sightedness and far-sightedness are fairly common.
Children with proximal 18q- have a higher likelihood of having hearing loss. There are two types of hearing loss. Conductive hearing loss describes hearing loss that is caused when there is an obstruction to the transmission of sound from the outer ear to the inner ear. Recurrent ear infections are a common cause of conductive hearing loss in children with proximal 18q-.
The second type of hearing loss is called sensorineural hearing loss. This refers to a hearing loss that is caused by a change in the nerves that transmit signals from the ear to the brain.
People with proximal 18q- may have conductive hearing loss, sensorineural hearing loss, or a combination of the two.
Babies and children with proximal 18q- may have some problems with digestion. The most common digestive problems include chronic constipation and reflux.
Some people with proximal 18q- may have kidney problems. Urine may flow backwards from the bladder, sometimes all the way to the kidneys. This is known as vesicoureteral reflux and can damage the kidneys.
Some people with proximal 18q- develop an abnormal curvature of their spine (scoliosis).
Children and adults with proximal 18q- may have changes in their growth patterns. They are often small for their age. Unlike some of the other chromosome 18 conditions, this growth delay does not appear to be due to growth hormone deficiency.
People with proximal 18q- may have facial features that are slightly different from other family members. These changes do not affect a child’s health or development. They are simply small differences that might be noted by a doctor. They may have a prominent forehead, and the middle of their face may look flat. Their eyes may be deep-set.
Although people with proximal 18q- may have facial features in common with one another, it is important to remember that they also have features in common with their family members.