Skip to main content

Table 1 Clinical information of patients with Currarino syndrome

From: Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome

Family No.Case No.SexAgeaSacral anomalyAnorectal malformation (ARM)Presacral massOther signsFamilial/
11F1 yrSacral agenesis (NA)Anorectal stenosisTeratomaS
22F3 yrSacral agenesis (NA)Rectal perineal fistulaS
33F3 mSacral agenesis (NA)Rectovestibular fistulaTeratomaS
44F6 yrSacral agenesis (NA)Anorectal stenosisTeratomaS
55M1 yrSacral agenesis (NA)Anorectal stenosisCystic formationF
66F5 yrCoccygeal agenesis (type V)Anorectal stenosisTeratomaF
7F21 mPartial sacrococcygeal agenesis (type III)Rectal perineal fistulaTethered cord, MyelomeningoceleF
78F3 yrPartial sacrococcygeal agenesis (type III)Rectal perineal fistulaCystic formationTethered cordF
89F2 yrHemisacrum (type IV)Anorectal stenosisTeratomaMeningocele, Tethered cordS
910F21 mSacral agenesis (NA)Rectovestibular fistulaTeratomaS
1011M9 mPartial sacrococcygeal agenesis (type III)Rectal perineal fistulaTeratomaS
1112F2 mSacral agenesis (NA)Rectal perineal fistulaHamartomaRight kidney transposition and malrotationS
1213F8 mPartial sacrococcygeal agenesis (type III)Anorectal stenosisTeratomaMeningocele, Tethered cordS
1314F9 mHemisacrum (type IV)Anorectal stenosisTethered cordS
1415F2 yrPartial sacrococcygeal agenesis (type III)Anorectal stenosisTeratomaSpinal arachnoid cystsS
1516F10 mHemisacrum (type IV)Anorectal stenosisTeratomaS
1617F9 mSacral agenesis (NA)Anorectal stenosisLipomaS
  1. aAge is expressed in years (yr) or months (m). bF, familial case; S, sporadic case
  2. Abbreviations: F female, M male, − absent, NA detailed information not available