Geleophysic dysplasia
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Geleophysic dysplasia is an inherited condition that is characterised by short stature, thickened skin, joint abnormalities, distinctive facial features, and heart (cardiac) problems. The features and the severity of geleophysic dysplasia can vary among affected individuals.
Descrição
Geleophysic dysplasia is an inherited condition that is characterised by short stature, thickened skin, joint abnormalities, distinctive facial features, and heart (cardiac) problems. The features and the severity of geleophysic dysplasia can vary among affected individuals.
People with geleophysic dysplasia have short stature with especially small hands and feet. A thickening of the skin combined with joint deformities (contractures) can limit movement in the joints, especially in the fingers and wrists. Contractures in the legs and hips may cause people with geleophysic dysplasia to walk on their toes. The joint abnormalities seen in affected individuals typically worsen over time.
Geleophysic dysplasia gets its name from the Greek words for happy ("gelios") and nature ("physis") and is derived from the good-natured facial appearance seen in many affected individuals. The distinctive facial features that are associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flattened area between the upper lip and the nose (philtrum).
People with geleophysic dysplasia often have cardiac problems. Abnormalities of the valves that control the flow of blood through the heart (cardiac valves) are especially common. In affected individuals, the cardiac valves may thicken, which can block blood flow and increase pressure in the heart. These cardiac valve problems can worsen over time. In some cases, people with geleophysic dysplasia have a narrowing of the artery from the heart to the lungs (pulmonary stenosis) or a hole between the two upper chambers of the heart (atrial septal defect).
Approximately one third of individuals with geleophysic dysplasia have an abnormality of the windpipe (trachea) or voice box (larynx) that can cause serious breathing problems. These airway problems can also worsen over time. Some affected individuals have recurrent respiratory infections. About one third of people with geleophysic dysplasia do not survive past early childhood due to serious cardiac or respiratory problems.
Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent ear infections, which can lead to hearing loss in some affected individuals.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
Geleophysic dwarfism
Related patient information and medicines
Patient information leaflet
Luxação
Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments around the new ... Developmental dysplasia of the hip. This is seen in babies when the hip joint doesn't develop normally. For more information see the separate leaflet called Developmental Dysplasia of the Hip..
Patient information leaflet
Problemas no quadril
Causas de hip problems in children Developmental dysplasia of the 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 important to pick this up and treat it... See the separate leaflet called Developmental Dysplasia.
Patient information leaflet
Crescimento restrito
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). It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
Patient information leaflet
Esofago de Barrett
In Barrett's oesophagus the cells that line the lower gullet (oesophagus) são abnormal. The main cause is long-standing reflux of acid from the stomach into the oesophagus. Barrett's oesophagus is a condition which affects the lower gullet (oesophagus). It is named afte... The changed cells in Barrett's oesophagus can develop something called.
Patient information leaflet
Exames físicos para recém-nascidos
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 displasia do desenvolvimento do quadril , 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
teste de triagem neonatal
The tests are trying to identify ... You can read more about these conditions in the sections linked to the various tests as above. For example, if your baby is found to have a condition where their hip joint is not stable ( developmental dysplasia of the hip ), the dor nas articulações can be stabilised by putting them in a harness ou um plaster cast for a.
Leitura adicional e referências
- Geleophysic dysplasia; MedlinePlus, National Library of Medicine.
- Globa E, Zelinska N, Dauber A. The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.
- Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
- Legare JM, Modaff P, Strom SP, Pauli RM, Bartlett HL. Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. Am J Med Genet A. 2018 Nov;176(11):2237-2242. doi: 10.1002/ajmg.a.40377. Epub 2018 Sep 8.
- Marzin P, Cormier-Daire V. Geleophysic Dysplasia. 2009 Sep 22 [updated 2024 Mar 28]. 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/NBK11168/
- Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonniere M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21.
- McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.
- Piccolo P, Sabatino V, Mithbaokar P, Polishchuck E, Law SK, Magraner-Pardo L, Pons T, Polishchuck R, Brunetti-Pierri N. Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. Mol Genet Metab Rep. 2019 Sep 5;21:100504. doi: 10.1016/j.ymgmr.2019.100504. eCollection 2019 Dec.
- Shohat M, Gruber HE, Pagon RA, Witcoff LJ, Lachman R, Ferry D, Flaum E, Rimoin DL. Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. J Pediatr. 1990 Aug;117(2 Pt 1):227-32. doi: 10.1016/s0022-3476(05)80534-7.
- Wraith JE, Bankier A, Chow CW, Danks DM, Sardharwalla IB. Geleophysic dysplasia. Am J Med Genet. 1990 Feb;35(2):153-6. doi: 10.1002/ajmg.1320350202.
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