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

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 anomaly^a

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 monogenic^a 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   congenita^b

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   conditions^a

12

Total

315