MCID: EYB005
MIFTS: 14

Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

MalaCards integrated aliases for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly:

Name: Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 57
Eyebrows Duplication of, with Stretchable Skin and Syndactyly 20
Eyebrow Duplication-Syndactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
eyebrow duplication-syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
eyebrows, duplication of, with stretchable skin and syndactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 227210
UMLS via Orphanet 71 C1856896
Orphanet 58 ORPHA3172
MedGen 41 C1856896
SNOMED-CT via HPO 68 205145001 258211005

Summaries for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

MalaCards based summary : Eyebrows, Duplication of, with Stretchable Skin and Syndactyly, is also known as eyebrows duplication of, with stretchable skin and syndactyly. Affiliated tissues include skin, and related phenotypes are long eyelashes and 2-3 toe syndactyly

More information from OMIM: 227210

Related Diseases for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Symptoms & Phenotypes for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Human phenotypes related to Eyebrows, Duplication of, with Stretchable Skin and Syndactyly:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 long eyelashes 31 HP:0000527
2 2-3 toe syndactyly 31 HP:0004691
3 periorbital wrinkles 31 HP:0000607
4 hypermobility of interphalangeal joints 31 HP:0005620
5 2-4 finger syndactyly 31 HP:0010709
6 hyperextensible skin of face 31 HP:0007425
7 hyperextensible skin of chest 31 HP:0011930
8 partial duplication of eyebrows 31 HP:0045018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hair:
long eyelashes
partial duplication of eyebrows
excess forehead hair

H E E N T:
excess periorbital skin wrinkling
congenital fibromata of lips

Limbs:
hypermobility of interphalangeal joints
syndactyly of second to fourth fingers
syndactyly of second and third toes

Skin:
excessively stretchable skin of face and chest

Clinical features from OMIM®:

227210 (Updated 05-Apr-2021)

Drugs & Therapeutics for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Search Clinical Trials , NIH Clinical Center for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Genetic Tests for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Anatomical Context for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

MalaCards organs/tissues related to Eyebrows, Duplication of, with Stretchable Skin and Syndactyly:

40
Skin

Publications for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Articles related to Eyebrows, Duplication of, with Stretchable Skin and Syndactyly:

# Title Authors PMID Year
1
Partial duplication of the eyebrows with other congenital malformations: a new syndrome. 57
2736796 1989
2
Partial duplication of the eyebrows with other congenital malformations: a new syndrome. 57
3359678 1988

Variations for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Expression for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Search GEO for disease gene expression data for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly.

Pathways for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

GO Terms for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

Sources for Eyebrows, Duplication of, with Stretchable Skin and Syndactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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