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

The data presented here should be useful as preliminary reference standards for motor milestone attainment in children with DD. [jhu.pure.elsevier.com]

• Diarrhea

  […] family of anion exchangers known as SLC26 [ Mount & Romero 2004 ], which to date comprises eleven members, including PDS (OMIM 274600 ), a chloride-iodide transporter involved in Pendred syndrome, and CLD, which is responsible for congenital chloride diarrhea [ncbi.nlm.nih.gov]

• Abdominal Pain

  The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. [ncbi.nlm.nih.gov]

• Joint Deformity

  Joint deformations are severe and can lead to either limitation of joint movement or hyperlaxity. The severity of the clinical manifestations is variable, ranging from very severe to moderate forms that may be diagnosed very late. [orpha.net]

  The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident later in 93% and was progressive. [ncbi.nlm.nih.gov]

• Hyperlaxity

  Joint deformations are severe and can lead to either limitation of joint movement or hyperlaxity. The severity of the clinical manifestations is variable, ranging from very severe to moderate forms that may be diagnosed very late. [orpha.net]

  A patient may suffer from hyperlaxity with recurrent dislocations of some joints, while other joints show stiffness and contractures. [accessanesthesiology.mhmedical.com]

• Ear Deformity

  Abstract Diastrophic dysplasia (DD), an autosomal recessive skeletal dysplasia, results in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot, and ear deformities. [ncbi.nlm.nih.gov]

  Typical vertebral body deformities. Arthrogryposis: no dwarfism, no epi-metaphseal involvement, no ear deformity and hitchhiker thumb SED: short-trunk dwarfism with stiff hips and often cleft palate and clubfoot, but no thumb and ear involvement. [gait.aidi.udel.edu]

  Diastrophic dysplasia is a cause of short-limb dwarfism which presents with progressive joint deformities and soft tissue contractures. Diastrophic variants are taller and less severely affected. Patients may show characteristic cauliflower ears. [indianpediatrics.net]

  Shortened limbs Ear deformities (cauliflower ear) Hand deformities (hitchhiker thumb, fused finger joints) Feet deformities (ClubFeet - the severity differs) CleftPalate Progressive deformities and contractures of joints (differing severity) Progressive [littlepeopleuk.org]

• 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]

• Dizziness

  Follow-up computed tomography scan of the cervical spine with visible smooth shape of the vertebral canal Click here to view Case 2 The patient, Caucasian female, was admitted to the hospital at the age of five due to balance disturbances, dizziness, [jcvjs.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]

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]

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

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

[…] hearing loss due to repeated ear infections Orthodontic treatment to relieve crowding of teeth caused by a small jaw Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems [webmd.com]