Metatropic dysplasia
Última actualización 18 Aug 2020
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Metatropic dysplasia is a skeletal disorder characterised by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.
Descripción
Metatropic dysplasia is a skeletal disorder characterised by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.
Affected infants are born with a narrow chest and unusually short arms and legs with dumbbell-shaped long bones. Beginning in early childhood, people with this condition develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). The curvature worsens with time and tends to be resistant to treatment. Because of the severe kyphoscoliosis, affected individuals may ultimately have a very short torso in relation to the length of their arms and legs.
Some people with metatropic dysplasia are born with an elongated tailbone known as a coccygeal tail; it is made of a tough but flexible tissue called cartilage. The coccygeal tail usually shrinks over time. Other skeletal problems associated with metatropic dysplasia include flattened bones of the spine (platyspondyly); excessive movement of spinal bones in the neck that can damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint deformities called contractures that restrict the movement of joints in the shoulders, elbows, hips, and knees. Beginning early in life, affected individuals can also develop a degenerative form of arthritis that causes joint pain and further restricts movement.
The signs and symptoms of metatropic dysplasia can vary from relatively mild to life-threatening. In the most severe cases, the narrow chest and spinal abnormalities prevent the lungs from expanding fully, which restricts breathing. Researchers formerly recognized several distinct forms of metatropic dysplasia based on the severity of the condition's features. The forms included a mild type, a classic type, and a lethal type. However, all of these forms are now considered to be part of a single condition with a spectrum of overlapping signs and symptoms.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Metatropic dwarfism
Metatropic dysplasia type 1
Related patient information and medicines
Patient information leaflet
Crecimiento restringido
Enanismo 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 i... Intelligence and lifespan are not generally affected. Diastrophic dysplasia (DTD). A rare genetic condition where limbs are shortened. Disorders which.
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
Luxación
Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments around the new joint ball will be stretched and weakened by the surgery. Developmental dysplasia of el hip. This is seen in babies when the hip joint doesn't develop normally. For more information see the.
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 the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Exámenes físicos de recién nacidos
Checking your baby's skin for birthmarks and rashes, as well as colour and texture. 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 boys have their scrotum examined to determine if the.
Patient information leaflet
Bebés prematuros
Of the births that were preterm in the UK: 5% were extremely preterm (before 28 weeks). 11% were very preterm (between 28 and 32 weeks). 85% were moderately preterm (between 32 and 37 weeks). Medical advances mean that we are getting better at treating preterm babies but the chances of survival still depend on the gestational age (week of.
Lecturas adicionales y referencias
- Metatropic dysplasia; MedlinePlus, National Library of Medicine.
- Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.
- Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.
- Genevieve D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V. Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi: 10.1002/ajmg.a.32191.
- Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A. 2007 Nov 1;143A(21):2512-22. doi: 10.1002/ajmg.a.31941.
- Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.
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