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Table 2 The twenty most frequent diseases, with their ORPHA code, number seen in the AnDDI-Rares network, number in CEMARA (differential number seen by reference centers of other networks)

From: 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orpha_Code

Disease

Number of patients in the_AnDDI-Rares network

Total number of patients in the CEMARA database

% of confirmed diagnosis in AnDDI-rares

% of probable diagnosis

Median age at diagnostic in months (with IQR)

870

Trisomy 21

3512

4459

94

4

0

(6)

636

Neurofibromatosis type 1

2943

5673

68

23

36

(113)

558

Marfan Syndrome

2848

3487

33

38

180

(288)

567

22q11.2 microdélétion syndrome

2009

2592

87

6

7

(72)

908

Fragile X syndrome

1580

2339

85

5

132

(330)

648

Noonan syndrome

1374

1703

61

26

24

(128)

98249

Ehlers-Danlos syndrome

1120

1980

22

62

216

(300)

805

Tuberous sclerosis

1046

1813

69

22

12

(138)

881

Turner syndrome

993

3923

92

4

-6

(102)

666

Osteogenesis imperfeceta

766

2487

53

32

0

(36)

484

Klinefelter syndrome

762

1450

96

1

0

(246)

273

Myotonic dystrophy type 1

682

4910

84

9

276

(372)

904

Williams syndrome

681

907

86

8

21

(42)

116

Beckwith-Wiedemann syndrome

639

1090

62

23

0

(7)

3380

Trisomy18

554

618

93

4

− 6

(0)

1991

Labial cleft with or without palatine cleft

510

2374

74

14

− 6

(6)

718

Isolated Pierre Robin syndrome

412

1799

52

26

0

(0)

1906

Valproate embryofoetopathie

408

458

23

72

72

(128)

83330

Spinal muscular atrophy type 1

408

1438

82

5

276

(377)

374

Goldenhar syndrome

405

773

32

49

0

(6.5)