Some individuals with microdeletion syndrome may exhibit mild or no symptoms, and the condition may be detected in genetic testing. However, sometimes the syndrome may cause the following symptoms:
- Seizures
- Moderate to severe learning problems
- Speech delays
- Behavior problems
- Trouble sleeping
- Developmental delays (learning to crawl, sit, or walk later than other babies)
- Hypotonia (low muscle tone)
- Feeding difficulties
- Slow weight gain
- Recurrent ear infections
- Microcephaly (unusually small head)
- Jaundice
People with microdeletion syndrome may experience gastrointestinal disorders, such as:
- Gastroesophageal reflux (backflow of acidic stomach contents into the esophagus)
- Abnormalities of the teeth
Some people with microdeletion syndrome may have a subtle pattern of characteristic facial features, which include:
- A long, narrow face
- Short philtrum (a narrow space between the nose and upper lip)
- A high-nose bridge
- Large ears
Some people with microdeletion syndrome are at an increased risk of developing behavioral and psychiatric disorders, including:
What is microdeletion syndrome?
Microdeletion syndrome results from the deletion of a small piece of a chromosome from each cell.
Your cells constantly replicate by undergoing a division process. In this process, your body cuts off the DNA strands to make them more manageable. But during this chopping process, a tiny portion of the chromosome may be removed, resulting in microdeletion.
The effect of microdeletion on a baby’s health and development mainly depends on the location and size of the missing portion.
Some microdeletions can cause symptoms, such as:
- Intellectual disability
- Problems with motor skills
- Miscarriage
In some cases, microdeletions may cause mild symptoms or no symptoms at all.
What are the different disorders associated with microdeletion?
Some of the most common disorders caused by microdeletion include:
- DiGeorge syndrome or velocardiofacial syndrome (most common microdeletion syndrome)
- Prader-Willi syndrome
- Angelman syndrome
- Neurofibromatosis type I
- Neurofibromatosis type II
- Williams syndrome
- Miller-Dieker syndrome
- Smith-Magenis syndrome
- Rubinstein-Taybi syndrome
- Wolf-Hirschhorn syndrome
How common are microdeletions?
Compared to other chromosomal abnormalities (which are common in mothers with certain risk factors aged 35 years or older or with a family history of a genetic disorder), microdeletions mostly occur randomly and not genetically. It can equally affect any child regardless of other risk factors. Most of us may have microdeletions that may go undiagnosed at times.
Currently, 22q11.2 deletion syndrome is diagnosed in about 1 in 4,000 people. However, there is a high chance that this condition may be underdiagnosed and may occur more frequently.
The majority of microdeletion cases are de novo, meaning that the person experiencing them is the first member of their family to do so and has no family history of the condition.
How is microdeletion syndrome treated?
There is no cure for microdeletion, but the associated symptoms need treatment. Treatment depends on the person’s symptoms, general health, and the severity of the condition.
Treatment may include consulting experts from different specialties, such as:
- Audiology
- Cardiology
- Cleft Lip and Palate Center
- Developmental Pediatrics
- ENT Services
- Endocrinology
- Interdisciplinary feeding evaluation
- Genetics
- Immunology
- Resonance disorders program
- Hematology
- Behavioral health
- Neurology
- Neuropsychology
- Orthopedics
- Speech pathology
- Urology
5q31.3 microdeletion syndrome: https://medlineplus.gov/genetics/condition/5q313-microdeletion-syndrome/#inheritance
NIH GARD Information: 2q23.1 microdeletion syndrome: https://rarediseases.org/gard-rare-disease/2q23-1-microdeletion-syndrome/#:~:text=1%20microdeletion%20syndrome%20is%20a,walk%20later%20than%20other%20babies).
22q Deletion Syndrome: https://www.nationwidechildrens.org/conditions/22q-deletion-syndrome
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