Table 2 Comparison of the major clinical findings in the known and suggested IDs, showing a broad clinical overlap between the different disorders

Reference

[18]

Web^a

[33]

[43]

[84]

[52]

[85]

[61]

Web^a

[86]

[70]

number of patients

155

13

20

44

403

51

34

90

61

63

15

ID specific chromosome

6

6

7

11

11

14

14

15

15

15

16

20

20

clinical overlap

with

BWS

SRS

TNDM, KOS14

SRS, PWS

BWS

TS14

AS infant

SRS, upd(6)mat, upd(20)mat

SRS, upd(6)mat, upd(16)mat

IUGR

Yes

53.8 % (7/13)

70 %

82 %

87 %

1

Rare

No

77 % (47/61)

100 %

prenatal overgrowth

Yes

58.8 % (20/34)

No

Yes

placenta

Abnormality: 8 %

Abnormality: 35 %

Placentomegaly

Placentomegaly

No

polyhydramion

Reported

97 % (33/34)

No

PNGR

Yes

33.3 % (2/6)

65 %

57 %

79 %

36.6 % (11/30)

63 %

No

2 % (1/49)

100 %

overgrowth

Yes

(6.7 % (2/30)

No

organomegaly

43.8 % (153/349)

No

Asymmetry

30 %

68 %

33.3 % (126/378

4 %

No

macroglossia

44 % (54/123)

94 % (379/403)

No

7 % (3/35)

relative macrocephaly

90 %

70 %

56 %

No

1 case

relative microcephaly

1 case

>80 %

hypotonia

93 %

88 %

<80 %

1 case

abdominal wall defects

21 % (24/114)

1 case

Rare

62.3 % (250/401)

Omphalocele: 32.3 % (11(34)

No

1 case

Exomphalos: 56.8 % (142/250)

diastasis recti: 67.6 % (23/34)

glycemic disorder

TNDM: 100 %

Hypoglycemia: 24 %

Hypoglycemia: 19 %; diabetes type 2 reported in later life

Hypoglycemia: 43.4 % (162/373)

Hypoglycemia diabetes type 2 reported in later life

Diabetes type 2: 25 %

no

precocious puberty

Frequent

Frequent

Reported

86 %

4 % [88]

No

100 %

mental retardation

Global delay: 65 %

Global delay: 20 %

39 %

100 %

100 %

3 %

speech delay

50 %

39 %

No speech

motor delay

50 % (7/14)

76 % (26/34)

100 %

learning difficulties

100 %

33 %

behaviour

20 %

9 %

70-90 %

100 %

9 %

feeding difficulties

90 %

84 %

Reported

43 %

78 %

>80 %

7 cases

seizures

1 case

>80 %

1 case

excessive sweating

75 %

64 %

Increased sensitivity to heat

scoliosis

5 %

9 %

23 %

40-80 % [88]

<80 %

1 case

adipositas

Reported in later life [21]

yes

67 %

<80 %

dysmorphic/typical facial gestalt

18 % (21/114)

100 %

>80 %

14.2 % (6/49)

Mild

clinodactyly/finger abnormalities

8 % (9/116)

45 %

75 %

5 cases

ear abnormalities

Low set posterior

Low set posterior

61.8 % (230/372)

otitis media

20 %

14 %

17.6 % (9/51)

hepatoblastoma

Reported

Reported

cardiac anomalities

9 % (10/114)

9 %

5-10 % [39]