If a word is labeled in RED, that means that it is defined under the “Basic Genetics” tab. Check out this link, to understand some of these terms better and to gain more genetic knowledge.

My child just received a diagnosis of 2q23.1 deletion/duplication disorder. What do I do next?

If you have received these results by someone other than a genetic counselor or clinical geneticist, you should make an appointment to meet with one. Their expertise in these types of chromosomal changes is key in understanding your child’s condition. They are most likely to have seen other children with similar chromosomal changes and will have a better idea of what types of treatments and follow-up your child may need. To find a genetic counselor near you, please check out our link under our “resources” tab.

Obtaining support and education should be your next step! Coping with a new diagnosis may be difficult, especially when it is such a rare condition. Talking to parents who have already gone through the diagnosis process is a great way in order to get insight into what to expect in the future. They can give helpful advice, and guidance for day-to-day difficulties. Please explore our site blog and personal stories. To find even more support, check out the additional support sites under our “communications” tab.

What are the common symptoms for 2q23.1 deletion/duplication disorders?

Syndromes caused by MBD5 loss or duplication overlap with autism spectrum disorders. Symptoms vary from case to case. These tend to include:

• developmental delay and/or regression
• motor delay, balance concerns
• language impairment
• muscle weakness
• infantile feeding difficulties
• seizures (seen to develop in nearly 100% of cases)
• behavioral problems
• sleep disturbances
• short attention span
• self-injurious behavior
• repetitive behavior
• aggression
•  autistic-like symptoms* 
• have a slow growth curve
• develop short stature as they age
•  microcephaly, or small head circumference
•  have difficulty walking
•  a broad-based gait
•  Children may also show various types of common facial features (listed below), and different types of skeletal or bone changes.
• constipation

It is important to meet with a genetic counselor and clinical geneticist to make sure that your child is being assessed for all possible health concerns.

To see rates in which these characteristics have developed within observed individuals, please check out the scientific papers that document these findings. This can be found under the “research and scientific papers” tab.

Please keep in mind that NOT all children with 2q23.1 deletion/duplication disorders will have ALL of these features. They have simply been seen before and may help give a diagnosis if genetic testing has not yet been completed and to help prepare for potential health concerns.

Some papers describe “dysmorphic facial features” what does this mean?

Some papers may say that an individual with a 2q23.1 deletion/duplication disorder may have “dysmorphic facial features”. This means that a child with this type of condition may have certain facial characteristics that are seen more commonly in people who have this condition. These features can also just be part of a family resemblance, having nothing to do with the condition. When many of these specific features are found in a child, it may help a professional more clearly make a clinical diagnosis or help him/her make a decision on testing options.

An individual with a 2q23.1 deletion/duplication disorder may show many different facial features. These may or may not include:

• a broad forehead
• a uni-brow
• thick and/or arched eyebrows
• eye abnormalities
• almond-shaped eyes
• a short up-turned nose
• other nasal abnormalities
• short philtrum (or space between the nose and upper lip)
• a thin tented upper-lip
• small teeth
• widely spaced teeth
• or other dental abnormalities
• a mouth that stays more in an open position when at rest
• thick or everted lower lip
• downturned corners of the mouth
• a wide mouth
• large tongue
• a shorter chin
• small ears and other outer ear abnormalities

Again, not all of these characteristics are found in every child, but they tend to happen more frequently within this specific population.

What are some important specialists that I should ask my child’s doctor about?

As always, it is important to have follow-up visits with a genetic counselor and a clinical geneticist. They are experts in the field of chromosomal changes and are more likely to be helpful in caring for the health of your child. A genetic specialist may want to consider parental testing in order to make sure that the changes in your child’s DNA are causing the condition observed. They may also ask you to follow-up with a neurologist to assess for seizures and other walking, development, and behavioral concerns. You may also need to obtain a developmental evaluation to gage the extent of developmental, and speech delay. The doctor may have other concerns regarding your child’s body systems and may ask you to visit with other specialists such as the cardiologist, neurologists or ophthalmologists. Your genetic specialist may also put you in contact with educational services, as well as developmental therapists. This is to ensure that you child will obtain aid in reaching their learning goals. Services include, but are not limited to, developing an Individualized Education Plan (IEP), occupational therapy, physical therapy, and speech therapy.

How and why does my child have a 2q23.1 deletion/duplication disorder?

Because this condition is so newly recognized, it is unsure how or why a child is born with this condition. Similar to many other conditions, it may simply be that the loss or duplication of genetic material is a RANDOM event. These random events cannot be prevented and could happen to any pregnancy.  It may also be possible that these changes could be passed down from an individual’s mother or father, but it is unclear as to why a child expresses these specific disease features, while their parent does not. As technology advances, more information will be discovered on why these changes occur more often in certain areas of chromosomes or specific genes.

What can I expect for the future?

2q23.1 deletion/duplication syndromes are such newly recognized conditions that we are still learning about what to expect. Most people who are diagnosed with this condition are still in early childhood.  Older children seen by doctors prior to MBD5 recognition may not have received testing when they were assessed.  Because of this, there is a lack of documentation of how these children will grow into adulthood and beyond. The best people who you can talk to are other parents who have older children. This is why it is important for parents to network and utilize support networking sites.  Please see the links to our Facebook Support Group under “About us”

Where can I find more information?

Please check out our research and scientific papers resources pages for more detailed information!

If you are unable to find the answers you are looking for, feel free to submit a question, via our “Ask A Question” tab.