| 词条 | Ruijs-Aalfs syndrome |
| 释义 |
| name = Ruijs-Aalfs syndrome | synonyms = | image = Autosomal recessive - en.svg | caption = Autosomal recessive pattern is the inheritance manner of this condition | pronounce = | field = Medical genetics | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the SPRTN gene | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} This is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years. Signs and symptomsThe main features of this condition are evident in skeleton and face[1] Facial features:
Other associated conditions:
All three patients developed liver cancer (hepatoma) in the teens. GeneticsThis condition has been associated with mutations in the Spartan gene (SPRTN). This gene is located on the long arm of chromosome 1 (1q42.2). PathopysiologyThis is not understood. DiagnosisThis syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the SPRTN gene Differential diagnosis
TreatmentThere is no specific treatment for this condition. Management is supportive. EpidemiologyThis condition is considered to be rare with only 3 cases reported in the literature. HistoryThis condition was first described in 2003.[2] References1. ^Lessel D, Vaz, B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera, E, Freire R, et al (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet. 46: 1239-1244 2. ^Ruijs MWG, van Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299 3 : Genetic diseases and disorders|Rare syndromes|Autosomal recessive disorders |
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