What is Intellectual Developmental Disorder, Autosomal Dominant 17 (MRD17)?
Intellectual Developmental Disorder, Autosomal Dominant 17 is a rare disease which presents with intellectual disability, as well as speech and language issues, as well as characteristic facial features. Symptoms might also include neurological, behavioral, and other medical issues.
Less than 30 individuals have been diagnosed with the syndrome globally.
This rare disease is also known as Schuurs-Hoeijmakers syndrome
What gene changes cause Intellectual Developmental Disorder, Autosomal Dominant 17 (MRD17)?
Changes in the PACS1 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
There are several types of Intellectual Developmental Disorder with autosomal dominant inheritance, currently over 60 genes have been described and should always be considered.
What are the main symptoms of Intellectual Developmental Disorder, Autosomal Dominant 17 (MRD17)?
One of the main symptoms of the syndrome is intellectual disability, which can range from mild to moderate. Affected individuals also experience speech issues, and usually their speech ranges from very limited to none at all.
- Distinctive facial characteristics of the syndrome include prominently thick and arched eyebrows, long eyelashes, wide-set eyes, downward-slanting outer eye corners, drooping eyelids, a broad mouth with downward-turned corners, a thin upper lip, and teeth that are spaced apart.
- Symptoms of the syndrome can also affect multiple parts of the body including the heart and brain.
- Individuals often experience walking delay, and then walk with a gait, making their walking unsteady.
- Feeding issues are common with the syndrome. Affected individuals, from childhood, prefer soft foods and often have issues learning how to chew. In later life, individuals also often suffer from reflux.
- Neurological symptoms of the syndrome include features, affecting communication and social skills, often associated with autism. Individuals may also be diagnosed with attention-deficit, hyperactivity disorder (ADD, ADHD) or obsessive-compulsive disorder (OCD). Seizures are also common with the syndrome.
How is it diagnosed?
To find out if someone has a diagnosis of Intellectual Developmental Disorder, Autosomal Dominant 17 (MRD17), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
