MCID: WRN004
MIFTS: 34

Wrinkly Skin Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Wrinkly Skin Syndrome

MalaCards integrated aliases for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 54 50 24 56 71 29 13 69
Wss 56 71
Wrinkled Skin Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
wrinkly skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
skin wrinkling improves with age


HPO:

32
wrinkly skin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wrinkly Skin Syndrome

NIH Rare Diseases : 50 wrinkly skin syndromeis a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). other associated signs and symptoms vary widely. case reports suggest that this condition is often inherited in an autosomal recessive fashion. it can be caused by mutations in the atp6voa2 gene. wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2. last updated: 11/21/2016

MalaCards based summary : Wrinkly Skin Syndrome, also known as wss, is related to woodhouse-sakati syndrome and weaver syndrome, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Wrinkly Skin Syndrome is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot : 71 Wrinkly skin syndrome: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.

Wikipedia : 72 Wrinkly skin syndrome is a hereditary connective tissue disorder that is inherited in an autosomal... more...

Description from OMIM: 278250

Related Diseases for Wrinkly Skin Syndrome

Diseases related to Wrinkly Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 11.3
2 weaver syndrome 11.0
3 wiedemann-steiner syndrome 10.8
4 weaver syndrome 1 10.8
5 cutis laxa 10.1
6 aneurysm 9.9
7 atherosclerosis 9.9
8 intracranial aneurysm 9.9
9 sakati syndrome 9.9
10 geroderma osteodysplasticum 9.9
11 cartilage-hair hypoplasia 9.9
12 aortic coarctation 9.7

Graphical network of the top 20 diseases related to Wrinkly Skin Syndrome:



Diseases related to Wrinkly Skin Syndrome

Symptoms & Phenotypes for Wrinkly Skin Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
high-arched palate

Neurologic- Central Nervous System:
speech delay

Head And Neck- Eyes:
downslanting palpebral fissures
epicanthal folds
hypertelorism

Skeletal- Skull:
wormian bones

Skin Nails & Hair- Nails:
short nails
brittle nails

Skeletal- Feet:
club feet
pes planus
deep plantar creases

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Male:
inguinal hernia

Head And Neck- Nose:
broad nasal bridge

Skeletal:
osteopenia

Skin Nails & Hair- Skin:
deep palmar creases
skin laxity
deep plantar creases
generalized skin wrinkling

Head And Neck- Head:
large anterior fontanel
delayed closure of fontanels
normal birth head circumference
progressive microcephaly

Laboratory- Abnormalities:
abnormal isoelectric focusing of serum transferrin
normal isoelectric focusing of apolipoprotein ciii

Skin Nails & Hair- Skin Histology:
frayed, broken, and shortened elastic fibers

Growth- Other:
failure to thrive

Skeletal- Spine:
scoliosis
kyphosis

Abdomen- External Features:
umbilical hernia

Head And Neck- Ears:
low-set ears

Skin Nails & Hair- Hair:
sparse hair

Prenatal Manifestations- Delivery:
premature rupture of membranes

Head And Neck- Teeth:
small teeth
dental caries
delayed tooth eruption

Skeletal- Limbs:
slender long bones

Head And Neck- Face:
long philtrum
smooth philtrum
sagging cheeks

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal- Pelvis:
coxa vara
congenital hip dislocation

Skeletal- Hands:
deep palmar creases
hyperextensible joints

Muscle Soft Tissue:
reduced muscle mass
abnormal subcutaneous fat distribution

Respiratory:
recurrent lower respiratory infections

Voice:
nasal voice


Clinical features from OMIM:

278250

Human phenotypes related to Wrinkly Skin Syndrome:

32 (show all 46)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 scoliosis 32 HP:0002650
4 umbilical hernia 32 HP:0001537
5 low-set ears 32 HP:0000369
6 hypertelorism 32 HP:0000316
7 wormian bones 32 HP:0002645
8 kyphosis 32 HP:0002808
9 sparse hair 32 HP:0008070
10 premature rupture of membranes 32 HP:0001788
11 cryptorchidism 32 HP:0000028
12 talipes equinovarus 32 HP:0001762
13 inguinal hernia 32 HP:0000023
14 intellectual disability 32 HP:0001249
15 joint hypermobility 32 HP:0001382
16 long philtrum 32 HP:0000343
17 wide nasal bridge 32 HP:0000431
18 pectus excavatum 32 HP:0000767
19 osteopenia 32 HP:0000938
20 scapular winging 32 HP:0003691
21 wide anterior fontanel 32 HP:0000260
22 downslanted palpebral fissures 32 HP:0000494
23 coxa vara 32 HP:0002812
24 pes planus 32 HP:0001763
25 fragile nails 32 HP:0001808
26 congenital hip dislocation 32 HP:0001374
27 high palate 32 HP:0000218
28 smooth philtrum 32 HP:0000319
29 epicanthus 32 HP:0000286
30 muscular hypotonia 32 HP:0001252
31 nasal speech 32 HP:0001611
32 microdontia 32 HP:0000691
33 carious teeth 32 HP:0000670
34 delayed speech and language development 32 HP:0000750
35 deep plantar creases 32 HP:0001869
36 delayed eruption of teeth 32 HP:0000684
37 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
38 progressive microcephaly 32 HP:0000253
39 deep palmar crease 32 HP:0006191
40 delayed cranial suture closure 32 HP:0000270
41 slender long bone 32 HP:0003100
42 short nail 32 HP:0001799
43 hypoplasia of the musculature 32 HP:0009004
44 palmoplantar cutis laxa 32 HP:0007517
45 neonatal wrinkled skin of hands and feet 32 HP:0007414
46 atrial septal dilatation 32 HP:0011995

Drugs & Therapeutics for Wrinkly Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Wrinkly Skin Syndrome

Genetic Tests for Wrinkly Skin Syndrome

Genetic tests related to Wrinkly Skin Syndrome:

id Genetic test Affiliating Genes
1 Wrinkly Skin Syndrome 29 24

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

39
Skin, Bone, Eye

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

(show all 16)
id Title Authors Year
1
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
2
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )
2008
3
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ( 18789104 )
2008
4
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
5
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. ( 16780467 )
2006
6
Wrinkly skin syndrome. ( 16045708 )
2005
7
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ( 11424136 )
2001
8
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ( 10406678 )
1999
9
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ( 10337674 )
1999
10
Neurological involvement in a child with the wrinkly skin syndrome. ( 9916839 )
1999
11
Del(2q)--cause of the wrinkly skin syndrome? ( 8500259 )
1993
12
The wrinkly skin syndrome: a report of a case and review of the literature. ( 2268976 )
1990
13
Wrinkly skin syndrome: phenotype and additional manifestations. ( 3321993 )
1987
14
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. ( 6851222 )
1983
15
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. ( 7163267 )
1982
16
The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. ( 4765201 )
1973

Variations for Wrinkly Skin Syndrome

ClinVar genetic disease variations for Wrinkly Skin Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V0A2 ATP6V0A2, 10132G-A single nucleotide variant Pathogenic
2 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs886043377 GRCh37 Chromosome 12, 124197190: 124197190

Expression for Wrinkly Skin Syndrome

Search GEO for disease gene expression data for Wrinkly Skin Syndrome.

Pathways for Wrinkly Skin Syndrome

GO Terms for Wrinkly Skin Syndrome

Sources for Wrinkly Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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