MCID: WRN004
MIFTS: 35

Wrinkly Skin Syndrome

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

Aliases & Classifications for Wrinkly Skin Syndrome

MalaCards integrated aliases for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 53 72 49 55 71 28 13 69
Wss 53 55 71
Wrinkled Skin Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
wrinkly skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
skin wrinkling improves with age


HPO:

31
wrinkly skin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wrinkly Skin Syndrome

NIH Rare Diseases : 49 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 hypertelorism, low-set ears and pectus excavatum. 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 15)
# Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 11.4
2 weaver syndrome 11.2
3 wiedemann-steiner syndrome 10.9
4 cutis laxa 10.1
5 acrocephalopolysyndactyly type iii 10.0
6 intracranial aneurysm 10.0
7 sakati syndrome 10.0
8 aneurysm 10.0
9 blood group, i system 9.9
10 cutis laxa, autosomal recessive, type ia 9.9
11 cutis laxa, autosomal recessive, type iia 9.9
12 geroderma osteodysplasticum 9.9
13 cartilage-hair hypoplasia 9.9
14 cutis laxa, autosomal recessive type 1 9.9
15 aortic coarctation 9.9

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:

53
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

Growth Other:
failure to thrive

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus
deep plantar creases
club feet

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
sparse hair

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

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

Head And Neck Mouth:
high-arched palate

Skin Nails Hair Nails:
short nails
brittle nails

Neurologic Central Nervous System:
speech delay

Skeletal Limbs:
slender long bones

Respiratory:
recurrent lower respiratory infections

Head And Neck Ears:
low-set ears

Skeletal:
osteopenia

Skeletal Spine:
scoliosis
kyphosis

Abdomen External Features:
umbilical hernia

Head And Neck Face:
smooth philtrum
long philtrum
sagging cheeks

Skeletal Skull:
wormian bones

Skeletal Pelvis:
coxa vara
congenital hip dislocation

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

Prenatal Manifestations Delivery:
premature rupture of membranes

Head And Neck Nose:
broad nasal bridge

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

Skeletal Hands:
hyperextensible joints
deep palmar creases

Voice:
nasal voice

Muscle Soft Tissue:
reduced muscle mass
abnormal subcutaneous fat distribution

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


Clinical features from OMIM:

278250

Human phenotypes related to Wrinkly Skin Syndrome:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 osteopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000938
6 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 inguinal hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000023
8 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 carious teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000670
10 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
11 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
12 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
13 smooth philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000319
14 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
15 decreased muscle mass 55 31 hallmark (90%) Very frequent (99-80%) HP:0003199
16 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
17 delayed eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000684
18 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
19 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
20 slurred speech 55 31 frequent (33%) Frequent (79-30%) HP:0001350
21 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
22 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
23 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
24 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
25 broad nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0000455
26 nasal speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001611
27 coxa vara 55 31 hallmark (90%) Very frequent (99-80%) HP:0002812
28 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
29 dandy-walker malformation 55 31 frequent (33%) Frequent (79-30%) HP:0001305
30 kyphoscoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002751
31 deep plantar creases 55 31 hallmark (90%) Very frequent (99-80%) HP:0001869
32 deep palmar crease 55 31 hallmark (90%) Very frequent (99-80%) HP:0006191
33 status epilepticus 55 31 frequent (33%) Frequent (79-30%) HP:0002133
34 congenital hip dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001374
35 lipodystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009125
36 generalized joint laxity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002761
37 progressive cerebellar ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002073
38 delayed closure of the anterior fontanelle 55 31 hallmark (90%) Very frequent (99-80%) HP:0001476
39 abnormality of the cheek 55 31 hallmark (90%) Very frequent (99-80%) HP:0004426
40 cutis laxa 55 31 hallmark (90%) Very frequent (99-80%) HP:0000973
41 excessive skin wrinkling on dorsum of hands and fingers 55 31 obligate (100%) Obligate (100%) HP:0007407
42 progressive microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000253
43 premature rupture of membranes 55 31 hallmark (90%) Very frequent (99-80%) HP:0001788
44 abnormal isoelectric focusing of serum transferrin 55 31 hallmark (90%) Very frequent (99-80%) HP:0003160
45 slender long bones with narrow diaphyses 55 31 hallmark (90%) Very frequent (99-80%) HP:0004993
46 prominent nasolabial fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0005272
47 recurrent sinopulmonary infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0005425
48 multiple palmar creases 55 31 hallmark (90%) Very frequent (99-80%) HP:0006114
49 thick cerebral cortex 55 31 hallmark (90%) Very frequent (99-80%) HP:0006891
50 prominent veins on trunk 55 31 hallmark (90%) Very frequent (99-80%) HP:0007457

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:

# Genetic test Affiliating Genes
1 Wrinkly Skin Syndrome 28 ATP6V0A2

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

38
Skin, Bone, Eye, Cortex

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

(show all 16)
# Title Authors Year
1
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
2
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
3
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ( 18789104 )
2008
4
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )
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
Neurological involvement in a child with the wrinkly skin syndrome. ( 9916839 )
1999
10
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ( 10337674 )
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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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