Encyclopedia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
- genetic conditions
1. Introduction
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.
2. Frequency
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.
3. Causes
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.
4. Inheritance
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
5. Other Names for This Condition
- Diastrophic dwarfism
- DTD
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/diastrophic-dysplasia
References
- Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. DiastrophicDysplasia. 2004 Nov 15 [updated 2013 Jul 18]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1350/
- Canto MJ, Buixeda M, Palau J, Ojeda F. Early ultrasonographic diagnosis ofdiastrophic dysplasia at 12 weeks of gestation in a fetus without previous familyhistory. Prenat Diagn. 2007 Oct;27(10):976-8. Review.
- Honório JC, Bruns RF, Gründtner LF, Raskin S, Ferrari LP, Araujo Júnior E,Nardozza LM. Diastrophic dysplasia: prenatal diagnosis and review of theliterature. Sao Paulo Med J. 2013;131(2):127-32. Review.
- Remes V, Poussa M, Lönnqvist T, Puusa A, Tervahartiala P, Helenius I, PeltonenJ. Walking ability in patients with diastrophic dysplasia: a clinical,electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop. 2004Sep-Oct;24(5):546-51.
- Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfatetransporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review,associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82.
