Background
Methods
Data source
Classification
Study population
Statistical analyses
Results
Birth prevalence and study population
CLD | Isolated CLD, n
| Multiple congenital anomalies, n
| CLD is part of a recognised condition, n
| Total, n
| Prevalence per 10,000 |
---|---|---|---|---|---|
Polydactyly | 291 | 45 | 83 | 419 | 8.4 |
Upper limb | 228 | 38 | 63a
| 329 | 6.6 |
Preaxial | 73 | 13 | 20 | 106 | 2.1 |
Postaxial | 141 | 21 | 39 | 201 | 4.0 |
NOS | 14 | 4 | 6 | 24 | 0.5 |
Lower limb | 75 | 9 | 32 | 116 | 2.3 |
Preaxial | 12 | 1 | 8 | 21 | 0.4 |
Postaxial | 59 | 7 | 19 | 85 | 1.7 |
NOS | 4 | 1 | 5 | 10 | 0.2 |
NOS | 4 | 0 | 2 | 6 | 0.1 |
Upper and lower limb | 16 | 2 | 14 | 32 | 0.6 |
Reduction defects | 180 | 42 | 120 | 342 | 6.9 |
Upper limb | 128 | 28 | 94 | 250 | 5.0 |
Transverse | 89 | 17 | 39 | 145 | 2.9 |
Longitudinal | 21b
| 9 | 51 | 81 | 1.6 |
Preaxial | 12 | 7 | 33 | 52 | 1.0 |
Postaxial | 10 | 2 | 18 | 30 | 0.6 |
Intercalary | 3 | 1 | 5 | 9 | 0.2 |
Central | 16 | 1 | 4 | 21 | 0.4 |
Multiple | 1 | 0 | 5 | 6 | 0.1 |
Lower limb | 66 | 25 | 58 | 149 | 3.0 |
Transverse | 29 | 15 | 31 | 75 | 1.5 |
Longitudinal | 23c
| 5 | 24 | 52 | 1.0 |
Preaxial | 4 | 3 | 9 | 16 | 0.3 |
Postaxial | 21 | 2 | 16 | 39 | 0.8 |
Intercalary | 7 | 5 | 10 | 22 | 0.4 |
Central | 13 | 1 | 2 | 16 | 0.3 |
Multiple | 7 | 2 | 8d
| 17 | 0.3 |
NOS | 1 | 1 | 0 | 2 | 0.04 |
NOS | 0 | 0 | 1 | 1 | 0.02 |
Upper and lower limb | 14 | 11 | 33 | 58 | 1.2 |
Syndactyly | 126 | 29 | 77 | 232 | 4.7 |
Upper limb | 77 | 17 | 46 | 140 | 2.8 |
Lower limb | 59 | 12 | 46 | 117 | 2.4 |
NOS | 0 | 1 | 0 | 1 | 0.02 |
Upper and lower limb | 10 | 1 | 15 | 26 | 0.5 |
Other CLDe
| 41 | 34 | 88 | 163 | 3.3 |
Upper limb | 18 | 14 | 66 | 98 | 2.0 |
Lower limb | 25 | 22 | 53 | 100 | 2.0 |
NOS | 0 | 1 | 0 | 1 | 0.02 |
Upper and lower limb | 2 | 3 | 31 | 36 | 0.7 |
Multiple CLDf
| 38g
| 14g
| 49g
| 101 | 2.0 |
Total no. of cases | 598 | 135 | 315 | 1048 | 21.1 |
Total no. of live births | 587 | 77 | 159 | 823 | 16.5 |
Classification
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 |
Trend analyses for the period 1992–2010
Localisation and laterality of limb defects
Right, | Left, | Bilateral, | Total of sites,b
| |
---|---|---|---|---|
n(%) |
n(%) |
n(%) |
n(%) | |
Polydactyly (n = 322) | 90 (13.6) | 98 (14.8) | 118 (17.8) | 306 (46.1) |
Upper limb | 65 (9.8) | 72 (10.8) | 95 (14.3) | 232 (34.9) |
Lower limb | 25 (3.8) | 26 (3.9) | 23 (3.5) | 74 (11.1) |
Syndactyly (n = 140) | 40 (6.0) | 49 (7.4) | 44 (6.6) | 133 (20.0) |
Upper limb | 24 (3.6) | 29 (4.4) | 26 (3.9) | 79 (11.9) |
Lower limb | 16 (2.4) | 20 (3.0) | 18 (2.7) | 54 (8.1) |
Reduction defects (n = 193) | 78 (11.7) | 88 (13.3) | 34 (5.1) | 200 (30.1) |
Upper limb | 52 (7.8) | 67 (10.1) | 14 (2.1) | 133 (20.0) |
Transverse | 38 (5.7) | 49 (7.4) | 7 (1.1) | 94 (14.2) |
Longitudinal | 8 (1.2) | 9 (1.4) | 6 (0.9) | 23 (3.5) |
Intercalary | 0 | 2 (0.3) | 0 | 2 (0.3) |
Central | 6 (0.9) | 7 (1.1) | 1 (0.2) | 14 (2.1) |
Lower limb | 26 (3.9) | 21 (3.2) | 20 (3.0) | 67 (10.1) |
Transverse | 10 (1.5) | 10 (1.5) | 10 (1.5) | 30 (4.5) |
Longitudinal | 10 (1.5) | 9 (1.4) | 3 (0.5) | 22 (3.3) |
Intercalary | 3 (0.5) | 1 (0.2) | 0 | 4 (0.6) |
Central | 3 (0.5) | 1 (0.2) | 7 (1.1) | 11 (1.7) |
Other CLD (n = 58) | 18 (2.7) | 32 (4.8) | 9 (1.4) | 59 (8.9) |
Upper limb | 5 (0.8) | 14 (2.1) | 4 (0.6) | 23 (3.5) |
Lower limb | 13 (2.0) | 18 (2.7) | 5 (0.8) | 36 (5.4) |
Total CLD (n = 664) | 226 (34.0) | 267 (40.2) | 205 (30.9) | 698 (105.1) |
Upper limb | 146 (22.0) | 182 (27.4) | 139 (20.9) | 467 (70.3) |
Lower limb | 80 (12.0) | 85 (12.8) | 66 (9.9) | 231 (34.8) |
Associated anomalies
Anomalies | Polydactyly | Syndactyly | Total reduction defects | Other CLD | Total CLDc
| ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
(n = 45) | (n = 29) | (n = 42) | (n = 34) | (n = 135) | |||||||
Totalb, n(%) | Preax | Postax |
n(%) | Totalb, n(%) | Transv | Preax | Postax | Intercal | Total, n(%) |
n(%) | |
CNS and neural tube defects | 6 (4.4) | 1 | 4 | 8 (5.9) | 10 (7.4) | 7 | 5 | 0 | 0 | 6 (4.4) | 27 (20.0) |
Hydrocephaly | 1 (0.7) | 0 | 0 | 5 (3.7) | 3 (2.2) | 2 | 2 | 0 | 0 | 3 (2.2) | 10 (7.4) |
Microcephaly | 0 | 0 | 0 | 1 (0.7) | 4 (3.0) | 3 | 2 | 0 | 0 | 0 | 4 (3.0) |
Eye | 0 | 0 | 0 | 5 (3.7) | 2 (1.5) | 1 | 0 | 1 | 0 | 3 (2.2) | 9 (6.7) |
Ear | 2 (1.5) | 1 | 1 | 1 (0.7) | 1 (0.7) | 1 | 0 | 0 | 0 | 1 (0.7) | 4 (3.0) |
Cardiovascular | 19 (14.1) | 9 | 9 | 7 (5.2) | 16 (11.9) | 9 | 6 | 1 | 2 | 17 (12.6) | 50 (37.0) |
Tetralogy of Fallot | 2 (1.5) | 2 | 0 | 0 | 2 (1.5) | 2 | 0 | 0 | 0 | 2 (1.5) | 6 (4.44) |
Atrium septum defects | 1 (0.7) | 1 | 0 | 1 (0.7) | 3 (2.2) | 2 | 1 | 0 | 0 | 3 (2.2) | 7 (5.2) |
Ventricular septum defects | 8 (5.9) | 4 | 3 | 4 (3.0) | 6 (4.4) | 2 | 3 | 1 | 2 | 6 (4.4 | 19 (14.1) |
Coarctation aortae | 2 (1.5) | 0 | 2 | 0 | 1 (0.7) | 0 | 1 | 0 | 0 | 1 (0.7) | 4 (3.0) |
Respiratory | 8 (5.9) | 2 | 4 | 3 (2.2) | 5 (3.7) | 2 | 3 | 0 | 0 | 6 (4.4) | 19 (14.1) |
Choanal atresia | 3 (2.2) | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 (2.2) |
Lung hypoplasia | 1 (0.7) | 0 | 0 | 1 (0.7) | 0 | 0 | 0 | 0 | 0 | 4 (3.0) | 5 (3.7) |
Clefts | 7 (5.2) | 2 | 4 | 5 (3.7) | 3 (2.2) | 1 | 2 | 0 | 0 | 2 (1.5) | 15 (11.1) |
Cleft palate | 3 (2,2) | 0 | 3 | 3 (2.2) | 2 (1.5) | 1 | 1 | 0 | 0 | 1 (0.7) | 8 (5.9) |
Cleft lip | 2 (1.5) | 0 | 1 | 0 | 1 (0.7) | 0 | 1 | 0 | 0 | 0 | 3 (2.2) |
Digestive | 8 (5.9) | 1 | 6 | 3 (2.2) | 14 (10.4) | 8 | 5 | 1 | 0 | 3 (2.2) | 25 (18.5) |
Malformations of oesophagus | 0 | 0 | 0 | 0 | 4 (3.0) | 2 | 0 | 0 | 0 | 0 | 4 (3.0) |
Atresia/stenosis large intestine | 2 (1.5) | 0 | 2 | 0 | 5 (3.7) | 3 | 2 | 0 | 0 | 0 | 7 (5.2) |
Anorectal atresia | 2 (1.5) | 0 | 2 | 0 | 5 (3.7) | 3 | 2 | 0 | 0 | 0 | 7 (5.2) |
Genital | 6 (4.4) | 0 | 6 | 3 (2.2) | 10 (7.4) | 6 | 4 | 0 | 0 | 4 (3.0) | 23 (17.0) |
Female | 1 (0.7) | 0 | 1 | 0 | 4 (3.0) | 1 | 2 | 0 | 0 | 0 | 5 (3.7) |
Male | 5 (3.7) | 0 | 5 | 3 (2.2) | 5 (3.7) | 3 | 1 | 0 | 0 | 4 (3.0) | 17 (12.6) |
Hypospadias | 4 (3.0) | 0 | 4 | 3 (2.2) | 3 (2.2) | 2 | 1 | 0 | 0 | 2 (1.5) | 12 (8.9) |
Urinary | 6 (4.4) | 1 | 3 | 10 (7.4) | 13 (9.6) | 6 | 6 | 1 | 1 | 8 (5.9) | 34 (25.2) |
Renal agenesis (uni/bilateral) | 3 (2.2) | 1 | 1 | 1 (0.7) | 7 (5.2) | 5 | 3 | 1 | 0 | 1 (0.7) | 12 (8.9) |
Cystic kidney | 0 | 0 | 0 | 1 (0.7) | 3 (2.2) | 1 | 2 | 0 | 1 | 1 (0.7) | 5 (3.7) |
Potter sequence | 0 | 0 | 0 | 1 (0.7) | 2 (1.5) | 1 | 2 | 0 | 0 | 1 (0.7) | 4 (3.0) |
Hydronephrosis | 1 (0.7) | 0 | 0 | 2 (1.5) | 0 | 0 | 0 | 0 | 0 | 2 (1.5) | 5 (3.7) |
Horseshoe kidney | 0 | 0 | 0 | 1 (0.7) | 1 (0.7) | 0 | 0 | 0 | 0 | 3 (2.2) | 4 (3.0) |
Abdominal wall defects | 2 (1.5) | 0 | 1 | 0 | 1 (0.7) | 1 | 0 | 0 | 0 | 2 (1.5) | 5 (3.7) |
Omphalocele | 1 (0.7) | 0 | 1 | 0 | 1 (0.7) | 1 | 0 | 0 | 0 | 2 (1.5) | 4 (3.0) |
Other | 4 (3.0) | 2 | 2 | 3 (2.2) | 2 (1.5) | 2 | 0 | 0 | 0 | 4 (3.0) | 12 (8.9) |
Anomalies | Polydactyly | Reduction defects | Syndactyly | Other CLD | Total | |||
---|---|---|---|---|---|---|---|---|
n(%) |
n(%) |
n(%) |
n(%) |
n(%) | χ2
|
P
| ||
Cardiovascular | yes | 15 (45.5) | 9 (27.3) | 1 (3.0) | 8 (24.2) | 33 (100) | 1.98 | 0.160 |
no | 25 (35.7) | 21 (30.0) | 14 (20.0) | 10 (14.3) | 70 (100) | |||
Urinary anomalies | yes | 5 (21.7) | 9 (39.1) | 5 (21.7) | 4 (17.4) | 23 (100) | 1.85 | 0.194#
|
no | 35 (43.8) | 21 (26.3) | 10 (12.5) | 14 (17.5) | 80 (100) | |||
CNS and neural tube defects | yes | 6 (31.6) | 7 (36.8) | 4 (21.1) | 2 (10.5) | 19 (100) | 1.63 | 0.246#
|
no | 34 (40.5) | 23 (27.4) | 11 (13.1) | 16 (19.0) | 84 (100) | |||
Genital | yes | 6 (31.6) | 8 (42.1) | 2 (10.5) | 3 (15.8) | 19 (100) | 1.09 | 0.354#
|
no | 34 (40.5) | 22 (26.2) | 13 (15.5) | 15 (17.9) | 84 (100) | |||
Digestive | yes | 7 (35.0) | 11 (55.0) | 1 (5.0) | 1 (5.0) | 20 (100) | 6.23 | 0.016#*
|
no | 33 (39.8) | 19 (22.9) | 14 (16.9) | 17 (20.5) | 83 (100) | |||
Respiratory | yes | 7 (50.0) | 4 (28.6) | 0 | 3 (21.4) | 14 (100) | 0.52 | 0.514#
|
no | 33 (37.1) | 26 (29.2) | 15 (16.9) | 15 (16.9) | 89 (100) | |||
Clefts (palate, lip) | yes | 6 (54.5) | 2 (18.2) | 2 (18.2) | 1 (9.1) | 11 (100) | 0.10 | 0.774#
|
no | 34 (37.0) | 28 (30.4) | 13 (14.1) | 17 (18.5) | 92 (100) | |||
Eye | yes | 0 | 1 (20.0) | 2 (40.0) | 2 (40.0) | 5 (100) | 0.10 | 0.838#
|
no | 40 (40.8) | 29 (29.6) | 13 (13.3) | 16 (16.3) | 98 (100) | |||
Ear | yes | 2 (66.7) | 1 (33.3) | 0 | 0 | 3 (100) | 0.03 | 1.000#
|
no | 38 (38.0) | 29 (29.0) | 15 (15.0) | 18 (18.0) | 100 (100) | |||
Total cases per CLD type | 40 (38.8) | 30 (29.1) | 15 (14.6) | 18 (17.5) | 103 (100) |
Discussion
Registry | Polydactyly | Reduction defects | Syndactyly | Total of the three CLD |
---|---|---|---|---|
Ireland - Dublin | 7.6 | 5.7 | 4.3 | 17.6 |
Denmark - Odense | 7.8 | 8.2 | 6.2 | 22.2 |
France - Paris | 13.8 | 8.0 | 5.1 | 26.9 |
Belgium - Hainaut | 8.6 | 7.3 | 7.6 | 23.4 |
Italy - Emilia Romagna | 8.1 | 5.4 | 4.5 | 18.0 |
Italy - Tuscany | 7.2 | 5.2 | 6.2 | 18.6 |
Northern Netherlandsa
| 8.8 | 8.6 | 5.8 | 23.2 |
Northern Netherlandsb
| 8.4 | 6.9 | 4.7 | 20.0 |