Diastrophic dysplasia

Rare disease characterized by short stature with short limbs and joint malformations leading to multiple joint contractures, mainly affecting shoulders, elbows, interphalangeal joints and hips.

Diastrophic dysplasia is an autosomal recessive inherited disease that causes limb shortening, spinal deformities such as scoliosis and lordosis. Patients frequently present with joint contractures and early onset osteoarthritis.

Its overall prevalence is estimated at 1 case per 100,000 individuals. Although it is present in almost all populations, it is more prevalent in the Finnish population where most cases have been identified.

Symptoms

Newborns with this pathology present bilateral clubfoot, short limbs, wrist deformity, adducted thumbs, cleft palate and hypoplastic jaws. In the first months of life, cysts appear in the external ear. Growth is slow, scoliosis is frequent and develops progressively. Joint deformities are severe and may lead to limitation of joint movement or hyperlaxity.

The expression of the disease is variable, with very severe and moderate forms, which may be diagnosed very late.

Disease management

Available treatments are aimed at relieving symptoms. Cervical spine surgery may be used in those individuals with evidence of spinal cord impingement and for clubfoot correction. Physical therapy is used to prevent early joint contractures.

Genes analyzed

SLC26A2

Bibliography

Barbosa M, Sousa AB, Medeira A, et al . Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. Clin Genet. 2011 Dec;80(6):550-7.

Härkönen H, Loid P, Mäkitie O. SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature. Genes (Basel). 2021 May 11;12(5):714.

Karniski LP. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 2001 Jul 1;10(14):1485-90.

Unger S, Superti-Furga A. Diastrophic Dysplasia. 2004 Nov 15 [updated 2021 Dec 23]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.