Below is a summary for the MBD5 gene observed in research publications. This is not meant to take the place of medical advice.
What is MBD5-associated neurodevelopmental disorder?
MBD5-associated neurodevelopmental disorder is a group of conditions that happen when there are changes to the MBD5 gene. These changes can keep the gene from working as it should. The disorder is also known as MAND.
MAND can happen when there are changes to the MBD5 gene. The disorder can also happen when larger segment of DNA are deleted or duplicated. Then it is known as 2q23.1 deletion syndrome or 2q23.1 duplication syndrome.
The MBD5 gene plays a key role in the development and function of the brain. It is also important for other organs, including the heart and intestines.
Because the MBD5 gene is important in the brain, many people who have MAND have:
- Intellectual disability
- Motor delay
- Speech impairments
- Autism spectrum disorder
- Behavior issues, including sleep issues, repetitive behaviors, and short attention span
Do people who have MAND syndrome look different?
Most people who have MAND don’t look very different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Thick or highly arched eyebrows
- Changes to the outer ear, such as a forward-facing structure
- Large earlobes, ears that stick out, or ears that are cupped
- Short nose, depressed or wide nasal bridge
- Downturned corners of the mouth and thin upper lip
Research Article Summaries