IllnessDwarfism, diastrophic

NGS +

Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals are short in stature and have very short arms and legs with early-onset osteoarthritis and contractures that worsen with age. Other features of diastrophic dysplasia include progressive scoliosis and hitchhiker's thumbs. About half of infants with diastrophic dysplasia are born with cleft palate and thickened, deformed ears. The symptoms of diastrophic dysplasia are similar to those of e.g. atelosteogenesis type 2, but diastrophic dysplasia is usually less severe. Although some affected infants have respiratory problems, most diastrophic dysplasia patients live into their adulthood. Diastrophic dysplasia and atelosteogenesis type 2 are just two of several skeletal disorders caused by mutations in the SLC26A2 gene. These mutations alter the structure of developing cartilage and prevent bones from forming normally. The disease is inherited in an autosomal recessive manner. In patients in whom the diagnosis was defined before testing, very large panels or whole exome sequencing allow molecular confirmation in up to 70% of cases, while the yield is about 20% when the diagnosis was unclear before testing. Hence, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1350/

https://www.ncbi.nlm.nih.gov/books/NBK1317/

• Allelic: Diastrophic dwarfism
• Achondrogenesis Ib (SLC26A2)
• Atelosteogenesis, type II (SLC26A2)
• De la Chapelle dysplasia (SLC26A2)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)