Warburg Micro Syndrome
What is Warburg Micro syndrome?
Warburg Micro syndrome is a rare autosomal recessive genetic disorder, primarily characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay.
What are the symptoms of Warburg Micro syndrome?
Children with Warburg Micro syndrome have problems with vision and their eyes. This includes:
- Abnormally small eyes (microphthalmia)
- Abnormally small corneas.
- Some clouding of the lenses of the eyes at birth (congenital cataracts)
- Degeneration of the optic nerve (optic atrophy)
- Atonic pupils; abnormally large, irregularly-shaped pupils that react poorly to light
- Intellectual disability
- Brain malformations
- Diminished muscle tone
- Underdeveloped genitalia
What causes Warburg Micro syndrome?
Warburg Micro syndrome is caused by alterations in one of at least four different genes. The four genes known to be associated with this disorder are RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20.
In some people, no alternation in any of these genes has been found. This suggests that additional genes may cause this disorder. A SNP chromosomal microarray should also be done because some submicroscopic chromosomal deletions have similar symptoms.
How is Warburg Micro syndrome diagnosed?
A diagnosis of Warburg Micro syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests.
Key findings of this disorder (microcephaly, cataracts, and microcornea) can also occur because of congenital viral infections and chromosomal abnormalities.
Initial tests should be done to rule out congenital viral infections and chromosomal abnormalities.
What are the treatments for Warburg Micro syndrome?
There is currently no cure or treatment to specifically treat Warburg Micro syndrome. Instead, treatment is directed toward the symptoms that are apparent in each individual.
Where can I find out more about Warburg Micro syndrome?