|
1
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
2
|
(HPO:0009775)
|
Amniotic constriction ring |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
3
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
4
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
8
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
9
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
10
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
13
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
15
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
16
|
(HPO:0005830)
|
Flexion contracture of toe |
|
|
|
|
9 / 7739
|
|
17
|
(OMIM)
|
Lack of epidermal ridges on palms and soles |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Facial milia, congenital, especially on chin |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Vesicles, congenital, on fingers and soles |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased sweating of palms and soles |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Rough, thick palmar skin |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thick calluses on soles of feet |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Fissuring of palms and/or soles in hot or cold weather |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Blistering of palms in hot weather (in some patients) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Hyperkeratosis, mild |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Absent or reduced number of sweat glands |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
|
|
54 / 7739
|
|
28
|
(OMIM)
|
Irregularity of rete pegs |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Collagen bundles of dermis coarse and twisted |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Increased numbers of capillaries in collagen of dermis |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Transverse grooving |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Longitudinal grooving and splitting |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Clubbed appearance (in some patients) |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
36
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
37
|
(HPO:0007455)
|
Adermatoglyphia |
|
|
|
|
4 / 7739
|