What is Meier-Gorlin syndrome (MGORS)
Meier-Gorlin syndrome is a rare genetic disease.
Affected individuals often have small ears, a short stature, and absent or very small kneecaps. Unique facial features are also present with the syndrome.
Other syndrome names: Ear, Patella, Short Stature syndrome, EPS; Microtia, Absent Patellae, Micrognathia syndrome.
What gene change causes Meier-Gorlin (MGORS)?
Gene changes in the following genes are responsible for causing the syndrome: ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5, and GMNN.
It is inherited in an autosomal recessive pattern. Apart from the mutation in the GMNN gene which 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.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Meier-Gorlin syndrome (MGORS)?
Characteristic facial features of the syndrome include a small head, small chin and a small mouth, full lips, and a narrow nose. As well as small ears and ear canals. Hearing loss is also associated with the syndrome. A short stature is also a symptom of the syndrome.
Breathing issues and respiratory tract anomalies are also common.
How is it diagnosed?
To find out if someone has a diagnosis of Meier-Gorlin syndrome (MGORS), 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.
