A 27-year-old primigravida patient with diastrophic dysplasia (DTD) presented to our obstetrics clinic at 8 weeks' gestational age. [ncbi.nlm.nih.gov]

Treatment of this deformity is usually surgical, but no long-term follow-up studies are presented in the literature. Authors present a case of two children with DTD who underwent anterior corpectomy due to severe cervical kyphosis. [jcvjs.com]

Furthermore, they classically present with scoliosis (progressive curvature of the spine) and unusually positioned thumbs (hitchhiker thumbs). [en.wikipedia.org]

• Atlanto-Axial Instability

  Atlanto-axial instability in diastrophic dysplasia. A case report. J Bone Joint Surg Am. 1991 Apr. 73(4):614-6. [Medline]. Rimoin DL. The chondrodystrophies. Adv Hum Genet. 1975. 5:1-118. [Medline]. Walker BA, Scott CI, Hall JG. [emedicine.com]

• Hearing Impairment

  Hearing impairment not usual (it is related to fusion of ossicles). Some patients present deformities of larynx and upper airways (laryngo and tracheomalacia). They can develop severe respiratory insufficiency. [gait.aidi.udel.edu]

  impairment Deafness Hearing defect [ more ] 0000365 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Micrognathia Little lower jaw [rarediseases.info.nih.gov]

  However, according to reports in the literature, other affected infants and children may experience hearing impairment due to such auditory canal stenosis or abnormal fusion or absence of the three tiny bones (auditory ossicles) in the middle ear that [rarediseases.org]

• Average Intelligence

  Most people with diastrophic dysplasia have average intelligence and a normal life expectancy and can expect to lead productive lives. All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts. [kidshealth.org]

• Cervical Cord Compression

  Cervical cord compression in diastrophic dwarfism. J Pediatr. 1974 Jun. 84(6):862-4. [Medline]. Matsuyama Y, Winter RB, Lonstein JE. The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. [emedicine.com]

• Gliosis

  A newborn with DTD and severe cervical kyphosis died immediately after birth of respiratory insufficiency; autopsy revealed neuronal degeneration and gliosis of the cervical spinal cord that had developed before birth. [ncbi.nlm.nih.gov]

The SRS-24 yielded 92 (79-103) points for the brace treatment and 93 (73-114) points for the surgical group, respectively. CONCLUSION: Brace treatment does not prevent progression of the spinal deformity in patients with DD. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Cervical kyphosis — if progressive with neurological changes, treatment may include a posterior cervical fusion with possible placement of a halo. [hopkinsmedicine.org]

Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. [ncbi.nlm.nih.gov]

Prognosis In the absence of severe complications (spinal cord compression) associated with spinal malformations, life expectancy is good but the short stature and deformity are usually severe. [orpha.net]

Treatment and prognosis Life expectancy and mental function are usually normal. In view of its autosomal recessive inheritance, there is a 25% change of recurrence. [radiopaedia.org]

Abstract Patients with diastrophic dysplasia have walking difficulties of obscure etiology; some are even wheelchair-bound. [ncbi.nlm.nih.gov]

Etiology The syndrome is caused by mutations in the SLC26A2 (or diastrophic dysplasia sulfate transporter; DTDST ) gene (5q31-q34), which encodes a sulfate transporter that is predominantly expressed in the cartilage. [orpha.net]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Summary Epidemiology Prevalence is estimated at 1-1.3/100,000. The disorder affects both males and females. Clinical description At birth, infants have bilateral clubfoot, short limb deformation of the wrists and abducted thumbs. [orpha.net]

Relevant External Links for SLC26A2 Genetic Association Database (GAD) SLC26A2 Human Genome Epidemiology (HuGE) Navigator SLC26A2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC26A2 No data available for Genatlas for SLC26A2 Gene The [genecards.org]

Chalazion and Hordeolum ( Stye) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional Version. [azuwavynyj.tk]

Pathophysiology Proteoglycans are considered to be among the chief constituents of cartilage. [emedicine.com]

This paper presents a novel but simple approach to the compression of auricular swelling in the setting of diastrophic dysplasia, using conforming molds with the goal of preventing permanent deformity. [ncbi.nlm.nih.gov]

We strive to maximize children’s mobility, correct deformity, and prevent future complications. [nemours.org]

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. [en.wikipedia.org]