Table 1 Distribution of individual Beckwith-Wiedemann syndrome clinical features according to molecular subtype

Facial naevus flammeus

21.1% (40/190)

3.7% (7/190)

75.3% (143/190)

73.1% (190/260)

Diastasis recti

33.3% (14/42)

23.8% (10/42)

42.9% (18/42)

72.4% (42/58)

Organomegaly

38.3% (51/133)

16.5% (22/133)

45.1% (60/133)

72.3% (133/184)

Macroglossia

22.5% (92/408)

8.1% (33/408)

69.4% (283/408)

72.2% (408/565)

Polyhydramnios

24.4% (19/78)

3.8% (3/78)

71.8% (56/78)

71.6% (78/109)

Exomphalos

6.9% (12/173)

1.7% (3/173)

91.3% (158/173)

70.0% (173/247)

Prognathism

22.0% (11/50)

10.0% (5/50)

68.0% (34/50)

67.6% (50/74)

Ear creases/pits

17.9% (47/263)

6.8% (18/263)

75.3% (198/263)

66.8% (263/394)

Maxillary hypoplasia

29.4% (20/68)

11.8% (8/68)

58.8% (40/68)

65.4% (68/104)

Macrosomia

29.7% (80/269)

8.2% (22/269)

62.1% (167/269)

64.4% (269/418)

Neonatal hypoglycaemia

28.9% (58/201)

8.5% (17/201)

62.7% (126/201)

62.4% (201/322)

Umbilical hernia

33.8% (47/139)

10.8% (15/139)

55.4% (77/139)

59.9% (139/232)

Inguinal hernia

18.2% (4/22)

0.0% (0/22)

81.8% (18/22)

59.5% (22/37)

Congenital heart defects

18.0% (9/50)

10.0% (5/50)

72.0% (36/50)

55.6% (50/90)

Embryonal tumours

43.8% (7/16)

37.5% (6/16)

18.8% (3/16)

48.5% (16/33)

Hemihypertrophy

57.3% (98/171)

7.6% (13/171)

35.1% (60/171)

38.2% (171/448)