Table 10 Summary of prominent dysmorphic features found in patients with MDS reported in the literature; NR = not reported

Head

Microcephaly (OFC < − 2 SD)

38/178

7/17

45/195 (23%)

[5, 7, 9, 11, 13, 14, 16, 19, 25, 27, 29, 31, 32, 38, 40, 43, 51, 69,70,71, 74, 77, 81, 84, 85]

Macrocephaly (OFC >  + 2 SD)

25/146

4/23

29/169 (17%)

[1, 3, 5, 14, 19, 25, 32, 36, 38, 58, 65, 69, 71, 77, 85]

Brachycephaly

19/42

NR

19/42 (45%)

[14, 18, 19, 25, 32, 34, 40, 59, 73]

Plagiocephaly

14/44

NR

14/44 (32%)

[5, 7, 16, 18, 21, 25, 64, 85]

Face/forehead

Facial hypotonia/hypomimic face

34/62

3/3

37/65 (57%)

[2, 10, 13, 14, 16, 25, 34, 51, 59, 71, 85]

Midface hypoplasia

67/99

NR

67/99 (68%)

[7, 14, 19, 25, 36, 40, 42, 59, 73, 77, 85, 86]

Long face

8/29

1/2

9/31 (29%)

[16, 21,22,23, 54, 69, 85]

Hair

Sparse anteriorly

29/42

NR

29/42 (69%)

[77]

Thick and dense

39/43

1/6

40/49 (82%)

[40, 77]

Eyes

Sparse eyebrows

24/47

1/4

25/51 (49%)

[17, 25, 43, 77]

Synophrys

15/62

2/3

17/65 (26%)

[16, 35, 38, 51, 77, 85]

Deep-set eyes

33/78

NR

33/78 (42%)

[14, 25, 77, 84, 86]

Downslanting palpebral fissures

12/33

2/2

14/35 (40%)

[1, 16, 21, 22, 38, 40, 51, 52, 59, 85]

Epicanthal folds

32/93

3/5

35/98 (36%)

[8, 11, 14, 16, 25, 38, 40, 43, 51, 67, 69, 77, 85]

Hypertelorism

48/121

6/10

54/131 (41%)

[1, 7, 9, 11, 14, 19, 25, 31, 32, 38, 51, 52, 55, 69, 70, 77]

Ptosis

18/63

2/5

20/68 (29%)

[14, 25, 27, 31, 38, 40, 43, 77]

Strabismus

50/72

1/1

51/73 (70%)

[21, 22, 25, 32, 48, 51, 68, 77]

Ears

Large ears

82/131

1/2

83/133 (62%)

[7, 8, 14, 16, 19,20,21, 23, 25, 33, 36, 42, 47, 51, 59, 64, 69, 73, 77]

Low-set ears

15/31

2/4

17/35 (49%)

[16, 25, 32, 38, 51, 63, 69, 70, 73, 86]

Nose

Short nose

14/29

1/1

15/30 (50%)

[1, 11, 16, 40, 51, 85]

Prominent tip of nose

29/43

1/1

30/44 (68%)

[52, 77]

Flat nasal bridge

17/31

3/6

20/37 (54%)

[25, 32, 38, 42, 43, 51, 52, 63, 73, 85]

Narrow nasal bridge

28/44

NR

28/44 (64%)

[77]

Prominent nasal bridge

48/95

NR

48/95 (51%)

[8, 14, 25, 32, 77, 84, 85]

Wide nasal bridge

21/40

4/8

25/48 (52%)

[11, 14, 16, 19, 25, 33, 43, 55, 85]

Upturned nares

28/65

NR

28/65 (43%)

[14, 25, 32, 63, 73, 77, 86]

Mouth and lips

High-arched palate

17/51

3/6

20/57 (35%)

[7, 9, 14, 21, 22, 25, 29, 32, 38, 51, 53, 63, 70, 85]

Tented upper lip vermilion

18/41

2/4

20/45 (44%)

[32, 51, 69, 70]

Open mouth appearance

57/67

2/5

59/72 (82%)

[16, 25, 27, 31, 43, 59, 77, 85, 86]

Small mouth

64/117

3/5

67/122 (55%)

[8, 9, 11, 13, 16, 25, 32, 51, 63, 69, 70, 77]

Thick lower lip

37/48

1/1

38/49 (78%)

[18, 27, 77]

Teeth

Teeth anomalies

32/34

NR

32/34 (94%)

[77]

Persistence of deciduous teeth

23/26

4/10

27/36 (75%)

[43, 74, 77]

Prominent central incisors

16/32

NR

16/32 (50%)

[77]

Jaw

Micrognathia

11/35

4/6

15/41 (37%)

[7, 9, 11, 31, 32, 38, 40, 51, 52, 59, 64, 69, 70]

Hands and feet

Clinodactyly

8/18

3/10

11/28 (40%)

[11, 14, 25, 32, 41, 65, 70]

Tapered fingers

55/80

NR

55/80 (69%)

[8, 11, 16, 77, 84, 85]

Small hands and/or feet

29/50

2/5

31/55 (56%)

[7, 11, 32, 48, 51, 70, 77]

Valgus flat feet

26/35

2/6

28/41 (68%)

[74, 77]