| 词条 | RAPADILINO syndrome |
| 释义 |
| synonyms = Radial and patellar aplasia, Radial and patellar hypoplasia | name = Rapadilino syndrome | image = Image:autorecessive.svg | caption = Rapadilino syndrome has an autosomal recessive pattern of inheritance. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}RAPADILINO syndrome is an autosomal recessive disorder characterized by:[1]
It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4.[2] This is also associated with Rothmund-Thomson syndrome[3] and Baller-Gerold syndrome.[4] References1. ^{{cite journal |vauthors=Kaariainen H, Ryoppy S, Norio R |title=Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations |journal=Am J Med Genet |volume=33 |issue=3 |pages=346–351 |year=1989 |pmid=2801769 |doi=10.1002/ajmg.1320330312 }} 2. ^{{cite journal |vauthors=Siitonen HA, Kopra O, Kääriäinen H, etal |title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases |journal=Hum. Mol. Genet. |volume=12 |issue=21 |pages=2837–44 |date=November 2003 |pmid=12952869 |doi=10.1093/hmg/ddg306 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12952869}} 3. ^{{cite journal |vauthors=Yin J, Kwon YT, Varshavsky A, Wang W |title=RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway |journal=Hum. Mol. Genet. |volume=13 |issue=20 |pages=2421–30 |date=October 2004 |pmid=15317757 |doi=10.1093/hmg/ddh269 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15317757}} 4. ^{{OMIM|218600}} External links{{Medical resources| DiseasesDB = 34465 | ICD10 = {{ICD10|Q|87|1|q|87}} | ICD9 = | ICDO = | OMIM = 266280 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C535288 | Orphanet = 3021 }}
6 : Congenital disorders of musculoskeletal system|Autosomal recessive disorders|Rare syndromes|Syndromes affecting bones|DNA replication and repair-deficiency disorders|Syndromes affecting stature |
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