Stromme syndrome (STROMS) is an autosomal recessive genetic disorder caused by compound heterozygous mutation in the CENPF gene (600236) on chromosome 1q41.
Stromme Syndrome affects multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
How does Stromme Syndrome occur? Everyone has two copies of the CENPF gene. It is unknown how many people are carriers of the mutated CENPF gene that causes Stromme Syndrome. Carriers express no symptoms because the second copy of the gene is normal. However, when two carriers have a child:
- 25% of the time that child receives two healthy CENPF genes (one from each parent)
- 50% of the time that child gets one healthy CENPF gene and one defective CENPF gene and becomes a carrier
- 25% of the time the child gets two defective CENPF genes and has Stromme Syndrome
How is Stromme Syndrome diagnosed? Stromme can be diagnosed through a blood test and whole exome sequencing.
What is the prognosis? In some cases, Stromme Syndrome is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment.
Is there a cure? No, not at this time.
For a full clinical description of Stromme Syndrome, visit OMIM.
Visit the Stories section of this website to get to know children who have been diagnosed with Stromme Syndrome.
Learn Medical Genetics has created a simple, straightforward explanation of Stromme Syndrome: