Wrinkly skin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WSS
Wrinkled skin syndrome
Number of Symptoms 76
OrphanetNr: 2834
OMIM Id: 278250
ICD-10: Q82.8
UMLs: C0406587
MeSH: C536750
MedDRA:
Snomed: 238875009

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cutis laxa type 2A
 -Rare abdominal surgical disease
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare skin disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0010650) Hypoplasia of the premaxilla Frequent [Orphanet] 39 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
7
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
8
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
9
 (HPO:0000343) Long philtrum 262 / 7739
10
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
11
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
12
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
13
 (HPO:0000260) Wide anterior fontanel 55 / 7739
14
 (HPO:0000218) High palate 356 / 7739
15
 (HPO:0000253) Progressive microcephaly 37 / 7739
16
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
17
 (HPO:0000319) Smooth philtrum 72 / 7739
18
 (HPO:0002645) Wormian bones 65 / 7739
19
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
20
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
21
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
22
 (HPO:0000691) Microdontia 104 / 7739
23
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
24
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
25
 (HPO:0000369) Low-set ears 372 / 7739
26
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
27
 (HPO:0000750) Delayed speech and language development 197 / 7739
28
 (HPO:0001249) Intellectual disability 1089 / 7739
29
 (HPO:0000767) Pectus excavatum 244 / 7739
30
 (HPO:0003100) Slender long bone 45 / 7739
31
 (HPO:0001762) Talipes equinovarus 309 / 7739
32
 (HPO:0006191) Deep palmar crease Very frequent [Orphanet] 16 / 7739
33
 (HPO:0002650) Scoliosis 705 / 7739
34
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
35
 (HPO:0001374) Congenital hip dislocation 51 / 7739
36
 (HPO:0003691) Scapular winging 51 / 7739
37
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
38
 (HPO:0000938) Osteopenia 138 / 7739
39
 (HPO:0001763) Pes planus 176 / 7739
40
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
41
 (HPO:0002812) Coxa vara 58 / 7739
42
 (HPO:0000924) Abnormality of the skeletal system Frequent [Orphanet] 114 / 7739
43
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
44
 (HPO:0001788) Premature rupture of membranes 5 / 7739
45
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
46
 (HPO:0000023) Inguinal hernia 181 / 7739
47
 (HPO:0001537) Umbilical hernia 206 / 7739
48
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
49
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
50
 (HPO:0001508) Failure to thrive 454 / 7739
51
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
52
 (HPO:0001799) Short nail 12 / 7739
53
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
54
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
55
 (HPO:0008070) Sparse hair 94 / 7739
56
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
57
 (HPO:0001808) Fragile nails 21 / 7739
58
 (HPO:0001869) Deep plantar creases 14 / 7739
59
 (HPO:0007414) Neonatal wrinkled skin of hands and feet 1 / 7739
60
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
61
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
62
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
63
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
64
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
65
 (HPO:0011995) Atrial septal aneurysm 2 / 7739
66
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 10 / 7739
67
 (HPO:0001611) Nasal speech 48 / 7739
68
 (HPO:0009004) Hypoplasia of the musculature 7 / 7739
69
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
70
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
71
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
72
 (OMIM) Prominent anterior thoracic venous pattern 1 / 7739
73
 (OMIM) Abnormal elastic fibers on skin biopsy 1 / 7739
74
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
75
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
76
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 and possibly 3 offspring of first-cousin parents, Gazit et al. (1973) described a disorder they called the wrinkly skin syndrome. It was characterized at birth by wrinkled skin of the hands and feet with an increased ...
Molecular genetics OMIM Kornak et al. (2008) found loss-of-function mutations in the ATP6V0A2 gene (see 611716.0003) in affected members of 4 consanguineous families from Oman diagnosed with wrinkly skin syndrome. They also found 8 different mutations in this gene (see 611716.0001-611716.0002) ...