Diastrophic Dysplasia (DTD)

What is Diastrophic Dysplasia (DTD)?

It is a rare genetic condition that affects the development of bone and cartilage. It leads to joint pain and abnormalities in affected individuals. The syndrome affects mainly those of caucasain descent and occurs in 1 in 500,000 live births in the US.

What gene changes cause Diastrophic Dysplasia (DTD)?

Mutations in the SLC26A2 gene are responsible for the syndrome. The syndrome has been identified as being inherited in an autosomal recessive pattern.

What are the main symptoms of Diastrophic Dysplasia (DTD)?

Dwarfism, where the arms and legs of affected individuals do not grow as they should, is the main symptom of the syndrome. Infants with the syndrome are usually born shorter than average.

Delayed motor development is usually an identifying feature in childhood. And children with the syndrome may take longer to master motor skills such as sitting, crawling and walking.

Physical features of the syndrome include scoliosis (curvature of the spine), an extended or protruding abdomen, hip dysplasia, joint and foot deformities, hernias, cauliflower ears, a cleft placate, and short fingers.

How does someone get tested for Diastrophic Dysplasia (DTD)?

The initial diagnosis of Diastrophic Dysplasia syndrome can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested

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