Table 2 Overview of clinical features of patients with a homozygous or compound heterozygous mutation in the ZMPSTE24 gene

n/N (percentage)

n/N (percentage)

n/N (percentage)

 Lipoatrophy of the extremities

yes

yes

no

yes

yes

yes

yes

yes

7/8 (88)

7/11 (64)

14/19 (74)

 Truncal lipoatrophy

yes

yes

no

no

yes

yes

yes

?

5/7 (71)

5/10 (50)

10/17 (59)

 Generalized lipodystrophy

yes

yes

no

yes

yes

yes

yes

?

6/7 (86)

4/11 (36)

10/18 (56)

 Facial lipoatrophy

yes

no

no

yes

yes

yes

yes

yes

6/8 (75)

4/12 (36)

10/20 (50)

 Short stature

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

10/10 (100)

18/18 (100)

 Underdeveloped occipital bone^a

yes

yes

yes

yes

yes

yes

yes

yes

7/7 (100)

2/2 (100)

9/9 (100)

 Hypoplastic nails

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

7/7 (100)

15/15 (100)

 Acro-osteolysis of distal phalanges^b

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

11/12 (92)

19/20 (95)

 Delayed closure of cranial sutures

?

yes

?

yes

yes

yes

possible

?

5/5 (100)

9/10 (90)

14/15 (93)

 Mandibular hypoplasia

yes

no

yes

yes

no

yes

yes

yes

6/8 (75)

12/12 (100)

18/20 (90)

 Clavicular hypoplasia^c

yes

yes

?

yes

yes

yes

?

yes

6/6 (100)

10/12 (83)

16/18 (89)

 Shortened phalanges of the hands

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

7/11 (64)

15/19 (79)

 Joint contractures

no

no

no

yes

yes

yes

yes

yes

5/8 (63)

9/12 (82)

14/20 (70)

 High palate

yes

yes

?

yes

yes

yes

?

yes

6/6 (100)

3/3 (100)

9/9 (100)

 Pinched nose

yes

no

no

no

no/bifid

yes

yes

?

3/7 (43)

9/11 (82)

12/18 (67)

 Proptosis

no

no

no

yes

yes

yes

no

no

3/8 (38)

7/10 (70)

10/18 (56)

 Posteriorly rotated ears

yes

no

no

no

yes

yes

yes

yes

5/8 (63)

3/7 (43)

8/15 (53)

 Gaze palsy and/or ptosis

no

no

no

no

no

no

yes (ptosis)

no

1/8 (13)

1/4 (25)

2/12 (17)

 Dental crowding

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

6/7 (86)

14/15 (93)

 Hypoplastic teeth

yes

no

?

no

no

yes

?

?

2/6 (33)

0/3 (0)

2/9 (22)

 Brittle and/or sparse hair

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

9/12 (75)

17/20 (85)

 Alopecia

no

no

no

yes

yes

yes

yes

yes

5/8 (50)

3/10 (33)

8/18 (44)

 Mottled pigmentation

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

10/10 (100)

18/18 (100)

 Skin atrophy

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

11/11 (100)

19/19 (100)

 Sclerodermic skin

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

8/9 (89)

16/17 (94)

 Calcified skin nodules

yes

yes

yes

yes

yes

yes

yes

yes

8/8 (100)

5/7 (71)

13/15 (87)

Normal psychomotor development

yes

yes

yes

yes

yes

yes

?

yes

7/7 (100)

7/9 (78)

14/16 (88)

Major / minor criteria (n/n)^#

6/2

7/2

5/1

7/3

7/3

7/3

5/3

6/3