20 Questions
Which type of genetic mutation causes Stoneman's syndrome?
Heterozygous missense mutation
What is the main effect of Stoneman's syndrome on the joints?
Progressive loss of mobility
Which body parts are commonly affected by malformation in Stoneman's syndrome?
Great toes and thumbs
What is the prevalence of Stoneman's syndrome worldwide?
1 case in 2 million individuals
Who first described Stoneman's syndrome?
Guy Patin
Which genetic mutation is responsible for Stoneman's syndrome?
Heterozygous missense mutation in the ACVR1 gene
What is the main symptom of Stoneman's syndrome?
Progressive loss of mobility in the joints
What is the prevalence of Stoneman's syndrome worldwide?
1 case in 2 million individuals
Which body parts are commonly affected by malformation in Stoneman's syndrome?
Fingers and toes
What is the most disabling form of heterotopic ossification in humans?
Stoneman's syndrome
Which characteristic is commonly seen in individuals with Stoneman's Syndrome?
Malformation of big toe
What is the cause of Stoneman's Syndrome?
Heterozygous missense mutation in the ACVR1 gene
What is the worldwide prevalence of Stoneman's Syndrome?
1 case in 2 million individuals
What is the main effect of Stoneman's Syndrome on the joints?
Progressive loss of mobility
How is Stoneman's Syndrome diagnosed?
Based on clinical finding of tumor-like swellings
Which of the following is a characteristic feature of Stoneman's Syndrome?
Progressive loss of mobility in the joints
What is the worldwide prevalence of Stoneman's Syndrome?
1 case in 2 million individuals
Which of the following is true about the racial and ethnic predispositions of Stoneman's Syndrome?
It doesn't have any racial or ethnic predispositions
Who first described Stoneman's Syndrome?
Guy Patin
What is the main effect of Stoneman's Syndrome on the connective tissue?
Progressive heterotopic ossification
Test your knowledge of Stoneman's syndrome, an autosomal dominant genetic disorder affecting connective tissue. Learn about the causes, symptoms, and progression of this condition, including the impact on joint mobility and malformation of great toes and thumbs.
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