MCID: SKN063
MIFTS: 29

Skin Creases, Congenital Symmetric Circumferential, 1

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Skin Creases, Congenital Symmetric Circumferential, 1

MalaCards integrated aliases for Skin Creases, Congenital Symmetric Circumferential, 1:

Name: Skin Creases, Congenital Symmetric Circumferential, 1 57 75
Michelin Tire Baby Syndrome 57 76 53 75 73
Skin Creases, Multiple Benign Ring-Shaped, of Limbs 57 53 75
Circumferential Skin Creases, Kunze Type 57 75
Cscsc1 57 75
Symmetric Circumferential Skin Creases, Congenital, 1 57
Multiple Benign Ring-Shaped Skin Creases of Limbs 75
Circumferential Skin Creases Kunze Type 75
Kunze Riehm Syndrome 53
Michelin-Tire Baby 6
Csc-Kt 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
spontaneous improvement or resolution of skin creases in childhood
based on report of 3 unrelated children (last curated january 2016)


HPO:

32
skin creases, congenital symmetric circumferential, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Skin Creases, Congenital Symmetric Circumferential, 1

NIH Rare Diseases : 53 Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital).  The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows.  MTBS may be associated with other signs, such as unusual facial features or delays in development; these other features are different for each affected individual.  The exact cause of MTBS is unknown.  It has been suggested that MTBS might have a genetic cause, because there are reports of multiple affected members of the same family.

MalaCards based summary : Skin Creases, Congenital Symmetric Circumferential, 1, also known as michelin tire baby syndrome, is related to multiple benign circumferential skin creases on limbs and skin creases, congenital symmetric circumferential, 2. An important gene associated with Skin Creases, Congenital Symmetric Circumferential, 1 is TUBB (Tubulin Beta Class I). Affiliated tissues include skin and smooth muscle, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). (156610)

UniProtKB/Swiss-Prot : 75 Skin creases, congenital symmetric circumferential, 1: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.

Wikipedia : 76 Michelin tire baby syndrome (also known as \"Folded skin with scarring\"), is characterized by multiple,... more...

Related Diseases for Skin Creases, Congenital Symmetric Circumferential, 1

Diseases in the Skin Creases, Congenital Symmetric Circumferential, 1 family:

Skin Creases, Congenital Symmetric Circumferential, 2

Diseases related to Skin Creases, Congenital Symmetric Circumferential, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple benign circumferential skin creases on limbs 11.8
2 skin creases, congenital symmetric circumferential, 2 11.0

Symptoms & Phenotypes for Skin Creases, Congenital Symmetric Circumferential, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
periorbital fullness
blepharophimosis
epicanthal folds
short palpebral fissures
more
Head And Neck Neck:
short neck
circumferential skin folds of neck (in some patients)

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
flat face
micrognathia (in some patients)

Chest Breasts:
hypoplastic nipples
widely spaced nipples
high position of nipples

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (rare)

Skeletal Feet:
skin syndactyly between second and third toes (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
thick, overfolded helices

Head And Neck Mouth:
high palate
cleft palate
microstomia

Skeletal Skull:
microcephaly
brachycephaly

Neurologic Central Nervous System:
motor delay
dandy-walker malformation (rare)
mental retardation, mild to profound
speech delay, mild
hypotonia, mild (rare)
more
Head And Neck Nose:
broad depressed nasal bridge

Skeletal Hands:
long fingers (in some patients)

Skin Nails Hair Skin:
circumferential skin creases on extremities
circumferential skin creases on neck (in some patients)


Clinical features from OMIM:

156610

Human phenotypes related to Skin Creases, Congenital Symmetric Circumferential, 1:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 pectus excavatum 32 occasional (7.5%) HP:0000767
5 high palate 32 HP:0000218
6 intellectual disability 32 HP:0001249
7 delayed speech and language development 32 HP:0000750
8 microcephaly 32 HP:0000252
9 brachycephaly 32 HP:0000248
10 cleft palate 32 HP:0000175
11 micrognathia 32 occasional (7.5%) HP:0000347
12 epicanthus 32 HP:0000286
13 periorbital fullness 32 HP:0000629
14 flat face 32 HP:0012368
15 wide intermamillary distance 32 HP:0006610
16 microphthalmia 32 occasional (7.5%) HP:0000568
17 narrow mouth 32 HP:0000160
18 upslanted palpebral fissure 32 occasional (7.5%) HP:0000582
19 blepharophimosis 32 HP:0000581
20 microcornea 32 occasional (7.5%) HP:0000482
21 dandy-walker malformation 32 occasional (7.5%) HP:0001305
22 motor delay 32 HP:0001270
23 cerebellar vermis atrophy 32 occasional (7.5%) HP:0006855
24 abnormality of cardiovascular system morphology 32 HP:0030680
25 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
26 hypoplastic nipples 32 HP:0002557
27 abnormality of the skin 32 HP:0000951
28 short palpebral fissure 32 HP:0012745
29 generalized hypotonia 32 occasional (7.5%) HP:0001290
30 posteriorly rotated ears 32 HP:0000358
31 long fingers 32 occasional (7.5%) HP:0100807
32 localized neuroblastoma 32 HP:0006768

Drugs & Therapeutics for Skin Creases, Congenital Symmetric Circumferential, 1

Search Clinical Trials , NIH Clinical Center for Skin Creases, Congenital Symmetric Circumferential, 1

Genetic Tests for Skin Creases, Congenital Symmetric Circumferential, 1

Anatomical Context for Skin Creases, Congenital Symmetric Circumferential, 1

MalaCards organs/tissues related to Skin Creases, Congenital Symmetric Circumferential, 1:

41
Skin, Smooth Muscle

Publications for Skin Creases, Congenital Symmetric Circumferential, 1

Articles related to Skin Creases, Congenital Symmetric Circumferential, 1:

(show all 14)
# Title Authors Year
1
Case of familial Michelin tire baby syndrome. ( 25726714 )
2015
2
Michelin tire baby syndrome: a case report. ( 26227104 )
2015
3
Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl. ( 25065283 )
2014
4
Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. ( 25424205 )
2014
5
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. ( 23324645 )
2013
6
Familial Michelin tire baby syndrome. ( 22470221 )
2012
7
A case of Michelin tire baby syndrome with a thickened epiglottis. ( 20199417 )
2010
8
Michelin tire baby syndrome--a case report and literature review. ( 21381593 )
2010
9
Self-healing congenital generalized skin creases: Michelin tire baby syndrome. ( 21093673 )
2010
10
Circumferential skin folds in a child: a case of Michelin tire baby syndrome. ( 17314450 )
2007
11
Spontaneously improving Michelin tire baby syndrome. ( 12657014 )
2003
12
Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. ( 8434626 )
1993
13
Michelin-tire baby syndrome resulting from diffuse smooth muscle hamartoma. ( 2694131 )
1989
14
Folded skin with scarring: Michelin tire baby syndrome? ( 7108000 )
1982

Variations for Skin Creases, Congenital Symmetric Circumferential, 1

UniProtKB/Swiss-Prot genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 1:

75
# Symbol AA change Variation ID SNP ID
1 TUBB p.Gln15Lys VAR_076543 rs864321676
2 TUBB p.Tyr222Phe VAR_076544 rs864321677

ClinVar genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh37 Chromosome 6, 30688326: 30688326
2 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh38 Chromosome 6, 30720549: 30720549
3 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh37 Chromosome 6, 30691504: 30691504
4 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh38 Chromosome 6, 30723727: 30723727

Expression for Skin Creases, Congenital Symmetric Circumferential, 1

Search GEO for disease gene expression data for Skin Creases, Congenital Symmetric Circumferential, 1.

Pathways for Skin Creases, Congenital Symmetric Circumferential, 1

GO Terms for Skin Creases, Congenital Symmetric Circumferential, 1

Sources for Skin Creases, Congenital Symmetric Circumferential, 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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