Diastrophic dysplasia
Última actualización 18 Aug 2020
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Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. 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.
Descripción
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. 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.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Diastrophic dwarfism
DTD
Related patient information and medicines
Patient information leaflet
Crecimiento restringido
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). Intelligence and lifespan are not generally affected. Diastrophic dysplasia (DTD). A rare genetic condition where limbs are shortened. It tends.
Patient information leaflet
esófago de Barrett
Another name sometimes used by doctors for Barrett's oesophagus is columnar-lined oesophagus (CLO). Understanding the oesophagus and stomach When we eat, food passes down the gullet (oesophagus) into the stomach. However, these cells have an increased risk, compared wit... The changed cells in Barrett's oesophagus can develop something called.
Patient information leaflet
Problemas de cadera
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of cadera problems in children Developmental dysplasia of el hip (DDH) A painless condition that can affect newborns, DDH makes el cadera joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Indigestión
If the symptoms are not typical and may be coming from outside the gut, for example, to rule out problems of the gallbladder, pancreas, liver, etc. If the symptoms are severe and do not respond to treatment. If there is a risk factor for stomach or oesophageal cancer, such as Barrett's oesophagus , dysplasia, o atrophic gastritis, or had ulcer.
Patient information leaflet
Exámenes físicos de recién nacidos
Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the hip joint develops. Examination of your baby's scrotum (in boys). All babies develop at different rates so don't worry too much if your baby can't do this, especially if they were born pr... Your health visitor or.
Patient information leaflet
Bebés prematuros
However about 1 in 10 of all premature babies will have a permanent disability such as lung disease, cerebral palsy, blindness or deafness. One study of 241 children born before 26 weeks of gestation found: 1 in 5 had severe disability (for example, cerebral palsy + not walking, low cognitive scores, blindness, profound deafness). 1 in 4 had.
Lecturas adicionales y referencias
- Diastrophic dysplasia; MedlinePlus, National Library of Medicine.
- Canto MJ, Buixeda M, Palau J, Ojeda F. Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. Prenat Diagn. 2007 Oct;27(10):976-8. doi: 10.1002/pd.1800. No abstract available.
- Honorio JC, Bruns RF, Grundtner LF, Raskin S, Ferrari LP, Araujo Junior E, Nardozza LM. Diastrophic dysplasia: prenatal diagnosis and review of the literature. Sao Paulo Med J. 2013;131(2):127-32. doi: 10.1590/s1516-31802013000100024.
- Remes V, Poussa M, Lonnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J. Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop. 2004 Sep-Oct;24(5):546-51. doi: 10.1097/00004694-200409000-00016.
- Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1.
- Unger S, Superti-Furga A. Diastrophic Dysplasia. 2004 Nov 15 [updated 2023 Mar 16]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1350/
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