Table 1 Presence of Published Criteria Helping Establishing the Diagnosis in Present Cohort of PTHS individuals (items occurring in > 75 % are indicated in bold)

Severe intellectual disability

2

47/47 (100 %)

Absent speech (<5words)

2

32/47 (68 %)

2

Severe speech impairment^a

1

15/15 (100 %)

Growth at birth normal

1

29/47 (62 %)

Overgrowth

1/47 (2 %)

−1

Postnatal decrease of OFC

1

7/27 (26 %)

OFC < −3SD

0/47 (0 %)

−2

Epilepsy/EEG abnormalities

1

17/47 (36 %)

Ataxia/motor incoordination

1

26/47 (55 %)

1

Walking >3 years/severe motor delay <3 years

44/47 (94 %)

2

Hyperbreathing/apnoea

1

19/47 (40 %)

1

Constipation

1

40/47 (85 %)

Abnormal brain MRI^b

1

3/12 (25 %)

Eye anomalies

1^c

25/47 (53 %)

Eye anomalies

21/47 (44 %)

1^d

Typical PTHS facial features^e

4

24/47 (51 %)

Partial typical PTHS facial features

2

23/47 (49 %)

 Deeply set eyes

23/41 (56 %)

1

 Protrusion mid/lower face

36/47 (77 %)

1

 Broad nasal bridge or convex nasal ridge^f

44/45 (98 %)

1

 High nasal bridge^f

30/44 (68 %)

1

 Flared nostrils

27/47 (57 %)

1

 Large mouth

37/47 (79 %)

1

 Tented vermillion of upper lip^f

20/47 (43 %)

1

 Everted vermillion of lower lip^f

37/46 (80 %)

1

Visceral malformations

1/47 (2 %)

−1

Stereotypy head/hands

22/47 (47 %)

2

Loss of purposeful hand skills

0/47 (0 %)

−1

Hypotonia

27/47 (57 %)

1

Smiling appearance

24/47 (51 %)

1

Anxiety/agitation

16/47 (34 %)

1

Check for TCF4 mutation indicated

If total score ≥10

29/47 (62 %)

3/42 (7 %)

Patients ≥3 years:

If total score ≥ 16

5/5 (100 %)

Patients <3 years:

If total score 10–15

Diagnostic

If total score ≥13

4/47 (9 %)

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