Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. Although some affected infants have breathing problems, most people with diastrophic dysplasia live into adulthood.

Although the exact prevalence of diastrophic dysplasia is unknown, researchers estimate that it affects about 1 in 500,000 newborns in the United States. This condition is more common in Finland, where it affects about 1 in 33,000 newborns.

Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

Genetic Testing Information

• Genetic Testing Registry: Diastrophic dysplasia

Genetic and Rare Diseases Information Center

• Diastrophic dysplasia

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

• DIASTROPHIC DYSPLASIA; DTD

Scientific Articles on PubMed

• PubMed

• Canto MJ, Buixeda M, Palau J, Ojeda F. Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. Prenat Diagn. 2007 Oct;27(10):976-8. doi: 10.1002/pd.1800. No abstract available. Citation on PubMed
• Honorio JC, Bruns RF, Grundtner LF, Raskin S, Ferrari LP, Araujo Junior E, Nardozza LM. Diastrophic dysplasia: prenatal diagnosis and review of the literature. Sao Paulo Med J. 2013;131(2):127-32. doi: 10.1590/s1516-31802013000100024. Citation on PubMed
• Remes V, Poussa M, Lonnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J. Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop. 2004 Sep-Oct;24(5):546-51. doi: 10.1097/00004694-200409000-00016. Citation on PubMed
• Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1. Erratum In: Hum Mutat 2001;18(1):82. Citation on PubMed
• Unger S, Superti-Furga A. Diastrophic Dysplasia. 2004 Nov 15 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1350/ Citation on PubMed