| 词条 | Omodysplasia 2 |
| 释义 |
| name = | synonyms = | image = Autosomal dominant - en.svg | caption = Omodysplasia 2 is inherited in an autosomal dominant manner. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system. Clinical featuresThese can be grouped under those evident in the skull/face, the long bones and the genitourinary system
GeneticsThis condition is inherited in an autosomal dominant fashion. Mutations in the Frizzled Class Receptor 2 (FZD2) gene have been associated with this condition.[1] DiagnosisDifferential diagnosisRobinow syndromeTreatmentThere is no currently known treatment for this condition. HistoryThis condition was first described by Maroteaux et al in 1989.[2] References1. ^Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A (2018) Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. Am J Med Genet A doi: 10.1002/ajmg.a.38623 2. ^Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375 External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 164745 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 93328 }} 1 : Rare diseases |
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