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Table 2 Description of the recognised conditions with congenital limb defects (CLD)

From: Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

Recognised condition CLD, n Type of CLD and the number of cases
Chromosomal 96  
  Trisomy 13, Patau 29 Polydactyly: Preax. LL = 1, Postax. UL = 19 and LL = 6, NOS UL = 4 and LL = 3
   Syndactyly LL = 1
  Trisomy 18, Edwards 24 Polydactyly: Preax. UL = 2, Postax. UL = 3
   Reduction: Transv. UL = 1 and LL = 1, Preax. UL = 7 (radius aplasia, thumb aplasia/hypoplasia) and LL = 1, Postax. UL = 2
   Syndactyly: UL = 2, LL = 5
   Other CLD: UL = 3, LL = 3
  Triploidy 69 11 Polydactyly Preax. UL = 1
   Syndactyly: UL = 7, LL = 8
   Other CLD LL = 1 (shortening toes)
  Trisomy 21, Down 6 Polydactyly Preax. LL = 1
   Syndactyly: UL = 2, LL = 3
  Trisomy 13, translocation 3 Polydactyly: Postax. UL = 2 and LL = 1, NOS UL = 1 and LL = 1
  Unlisted chromosomal anomalya 23  
Monogenenic 103  
  Arthrogryposis with a known gene 12 Other CLD: UL = 12 and LL = 8 (joint contractions)
  Greig syndrome 10 Polydactyly: Preax. UL = 3 and LL = 7, Postax. UL = 4 and LL = 1
   Syndactyly UL = 2, LL = 6
  Holt-Oram syndrome 7 Polydactyly Preax. UL = 3 (triphalangeal thumb)
   Reduction Preax. UL = 4 (radius aplasia/dysplasia)
  Apert syndrome 5 Polydatyly Preax. UL = 1
   Syndactyly: UL = 4 (3 digits II-V, 1 all digits), LL = 3 (all digits)
   Other CLD = 2
  Cornelia de Lange syndrome 5 Reduction: Transv. UL = 4 (bilateral), Postax. LL = 1, Central UL = 1 (split hand)
   Syndactyly LL = 1
   Other UL = 3 (all monodactyly)
  Bardet-Biedl syndrome 4 Polydactyly: Postax. UL = 3 (bilateral) and LL = 3 (2 bilateral)
   Reduction Transv. LL = 1
  Thanatophoric dysplasia/dwarfism 3 Reduction: Transv. UL = 1 and LL = 1, Intercalary UL = 2 and LL = 2
  Meckel-Gruber syndrome 3 Polydactyly: Postax. UL = 2 (1 bilateral) and LL = 2 (bilateral)
   Syndactyly: LL = 1 (bilateral)
  Peters plus syndrome 3 Reduction: Transv. UL = 2 (short UL) and LL = 1 (short LL), Intercalary LL = 1 (reduction of femur bilateral);
  Unlisted monogenica anomaly 51  
Deletions 9 Polydactyly: Preax. UL = 1, Postax. UL = 1
   Reduction: Transv. UL = 1 and LL = 1, Intercalary UL = 1 and LL = 1, Central UL = 1 (split hand) and LL = 1 (split foot)
   Syndactyly: UL = 1, LL = 3
Other recognised conditions 107  
  Amniotic bands 27 Reduction: Transv. UL = 14 and LL = 10, Preax. UL = 2 and LL = 6, Postax. UL = 5, Intercalary UL = 1
   Syndactyly: UL = 9, LL = 4
   Other CLD: UL = 4, LL = 5 (constriction bands)
  Caudal regression syndrome 4 Reduction: Transv. UL = 1 and LL = 1, Preax. UL = 1 (atresia radius and thumb), Postax. LL = 1
   Syndactyly UL = 1
  Acardiacus 3 Reduction: Transv. UL = 1 and LL = 1, Postax. UL = 1 and LL = 1, NOS = 1
   Syndactyly LL = 1
  Femoral facial syndrome 3 Reduction Intercalary = 1 (femoral hypoplasia)
   Syndactyly LL = 2
   Other CLD = 1 (contractures elbows and knees)
  Limb–body-wall complex 6 Reduction: Transv. UL = 1 and LL = 3 (right side), Intercalary UL = 1, Postax. LL = 2
   Other CLD LL = 1
  Oculo-auriculo-vertebral  spectrum 4 Polydactyly Preax. UL = 1
   Reduction Transv. UL = 1
   Other CLD: UL = 1 (Sprengel deformity), LL = 1 (hemihypertophy)
  VATER/VACTERL association 13 Polydactyly: Preax. UL = 2, Postax. LL = 1
   Reduction: Transv. UL = 1 and LL = 1, Preax. UL = 8 (radius aplasia with or without thumb agenesis/hypoplasia), Central UL = 1 (split hand)
   Other CLD LL = 1 (flexion-extension deformity)
  Poland syndrome 4 Reduction: Preax. UL = 2 (radius aplasia/dysplasia and thumb aplasia), Intercalary UL = 1
   Syndactyly UL = 3
  Foetal valproate syndrome 3 Polydactyly Preax. UL = 1
   Reduction Preax. UL = 2 (radius aplasia)
   Syndactyly UL = 1
  Arthrogryposis multiplex   congenitab 14 Other CLD: UL = 14 (joints contractures), LL = 11 (joints contractures)
  Femur-Fibula-Ulna complex 9 Reduction: Transv. LL = 1, Preax. LL = 1, Postax. UL = 5 (ulna hypoplasia, missing fingers) and LL = 8 (fibula aplasia, missing toes), Intercalary UL = 1 and LL = 4 (femur hypoplasia)
   Syndactyly: UL = 3, LL = 2
   Other CLD UL = 1
  Klippel-Trenaunay-Weber   syndrome 5 Other CLD: Hypertrophy UL = 3 (entire upper limb = 2, macrodactyly = 1) and LL = 2 (entire lower limb)
  Unlisted other recognised   conditionsa 12  
Total 315  
  1. Abbreviations: CLD–congenital limb defects, UL–upper limb, LL–lower limb, Transv.–transversal, Preax.–preaxial, Postax.–postaxial, n–number of children with CLD.
  2. aRecognised conditions occurring in less than 3 cases are not listed in the table.
  3. bUnknown gene.