| 词条 | RIDDLE syndrome |
| 释义 |
| synonyms = Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome | name = | image = Autorecessive.svg | caption = Riddle syndrome is inherited in an autosomal recessive pattern. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and LEarning difficulties. ClinicalThe features of this condition include
GeneticsThis condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion. The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand). DiagnosisDifferential diagnosis
Management{{Empty section|date=January 2018}}EpidemiologyThis condition is rare. Only four cases have been described up to 2017.[1] HistoryThis syndrome was first described by in Stewart et al. 2007.[2] References1. ^{{cite journal|last1=Pietrucha|first1=Barbara|last2=Heropolitańska-Pliszka|first2=Edyta|last3=Geffers|first3=Robert|last4=Enßen|first4=Julia|last5=Wieland|first5=Britta|last6=Bogdanova|first6=Natalia Valerijevna|last7=Dörk|first7=Thilo|title=Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings|journal=Frontiers in Immunology|date=4 December 2017|volume=8|doi=10.3389/fimmu.2017.01683}} 2. ^Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM (2007) RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci USA 104(43):16910-16915 External links{{Medical resources| DiseasesDB = | ICD10 = D82.8 | ICD9 = | ICDO = | OMIM = 611943 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 420741 }} 3 : Rare syndromes|Genetic diseases and disorders|Congenital disorders |
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