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Condition report · Musculoskeletal
A skeletal ciliopathy causing short ribs and a narrow chest, short limbs and sometimes extra fingers or toes. It is caused by changes in both copies of the DYNC2I1 gene.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal recessive
Caused by changes in both copies of DYNC2I1, a gene involved in cilia.
Signs and symptoms
A narrow chest from short ribs and short long bones is typical. Extra fingers or toes are seen in some.
What a diagnosis changes
Supportive care, with monitoring as needed. Carrier testing of relatives and genetic counselling are available, along with options for testing in future pregnancies.
Genes analysed
Also known as
SRPS6; SRTD8
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
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