Seckel syndrome 4624339 204267752 2008-04-08T18:25:20Z PipepBot 4984067 robot Adding: [[de:Seckel-Syndrom]] {{Unreferenced|date=January 2007}} {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 31625 | ICD10 = {{ICD10|Q|87|1|q|80}} | ICD9 = | ICDO = | OMIM = 210600 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | }} The '''Seckel syndrome''' or '''[[microcephalic]] [[primordial dwarfism]]''' is a [[congenital]] [[dwarfism|nanosomic]] disorder supposed to be caused by defects of genes on '''[[chromosome]] 3''' and '''18'''. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein ({{Gene|ATR}}) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. ==Symptoms== Symptoms include: * severe mental retardation (more than half of the patients have an IQ below 50) * [[achondroplasia]] * [[microcephaly]] * sometimes [[pancytopenia]] * [[cryptorchidism]] * low birth weight * dislocations of pelvis and elbow * unusually large eyes * low ears * small chin ==External links== * {{WhoNamedIt|synd|869}} [[Category:Congenital disorders]] [[Category:Growth disorders]] {{disease-stub}} {{Phakomatoses and other congenital malformations not elsewhere classified}} [[de:Seckel-Syndrom]] [[pl:Zespół Seckela]]