What is Mabry syndrome?
Mabry syndrome is a rare, genetic condition that is characterized by distinct facial features and intellectual disability. There are only about 20 recorded cases in medical literature.
What are the symptoms of Mabry syndrome?
Intellectual disability is a major symptom of Mabry syndrome, often ranging from moderate to severe. Speech is limited, the development of motor skills is delayed, seizures are present, and there is low muscle tone.
Distinct facial features are another characteristic symptom, with features like wide-set eyes, a nose with a rounded tip and broad bridge, a thin upper lip, downturned mouth, and long openings of the eyelids. As one grows, these features may become less pronounced.
Hyperphosphatasia, which means there are high levels of the enzyme alkaline phosphatase in the blood, is another symptom. It does not cause any negative effects, but it is used to obtain a diagnosis. Other symptoms include digestive system abnormalities, hearing loss, underdeveloped fingernails, and shortened bones at the ends of the fingers. Not every individual experiences all of these symptoms.
What causes Mabry syndrome?
Three genes can be mutated to cause Mabry syndrome: PIGV, PGAP2, and PIGO. They are all inherited in an autosomal recessive pattern and are all needed for the synthesis of glycosylphosphosphatidylinositol (GPI) anchors. These molecules bind proteins to the cell membrane, making sure they can be accessed when needed. When these genes are mutated, this does not happen. Medical professionals are unsure as to how exactly issues with that process cause the symptoms of Mabry syndrome.
How is Mabry syndrome diagnosed?
Doctors will look for the characteristic symptoms and perform a clinical evaluation. The only way to obtain a concrete diagnosis is through genetic testing.
What are the treatments for Mabry syndrome?
There is no cure for this syndrome; treatment is symptomatic.