Symptoma

Diastrophic Dysplasia

Diastrophic Dwarfism

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

  • Localized Edema

    The thickness of the joint cartilage was diminished and signs of early osteoarthritis, including bone cysts and local edema, were common. The ligamentum teres was visible in only 24% of patients, suggesting abnormality of the ligamentous structures. [ncbi.nlm.nih.gov]

  • Periodontitis

    The level of oral hygiene was evaluated with caries (DMF) and periodontal (GBI) indices. Cleft palate was recorded in 56% and hypodontia (excluding third molars) in 31% of the patients. Dental age was retarded. [ncbi.nlm.nih.gov]

  • Hearing Impairment

    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]

    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. [peachynay.tripod.com]

    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]

  • Skeletal Dysplasia

    Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques. An early diagnosis of diastrophic dysplasia can be reached at the and of the first trimester of pregnancy, using TVS. [ncbi.nlm.nih.gov]

    Locations & Doctors Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications. [nemours.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]

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]

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]

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]

Genetisk epidemiologi i Norge. Finska läkaresällskapets handlingar 135, 199–213 (1992). 17 Goodman, R.M. in Population structure and genetic disorders (eds A.W. Eriksson, H.R. Forsius, H.R. Nevanlinna, P.L. Workman & R.K. [nature.com]

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

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

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]

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]

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