MCID: SYN025
MIFTS: 16

Syndactyly-Polydactyly-Earlobe Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndactyly-Polydactyly-Earlobe Syndrome

MalaCards integrated aliases for Syndactyly-Polydactyly-Earlobe Syndrome:

Name: Syndactyly-Polydactyly-Earlobe Syndrome 57 53 72
Spel Syndrome 57 53
Hallux Syndactyly Ulnar Polydactyly Abnormal Ear Lobes 53
Syndactyly-Polydactyly-Ear Lobe Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
syndactyly-polydactyly-earlobe syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186350
UMLS via Orphanet 73 C1861347
Orphanet 59 ORPHA3259
MedGen 42 C1861347
UMLS 72 C1861347

Summaries for Syndactyly-Polydactyly-Earlobe Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3259DefinitionA rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.Visit the Orphanet disease page for more resources.

MalaCards based summary : Syndactyly-Polydactyly-Earlobe Syndrome, also known as spel syndrome, is related to polydactyly, preaxial iv and chromosome 2q35 duplication syndrome. Affiliated tissues include bone, and related phenotypes are preaxial hand polydactyly and abnormality of earlobe

More information from OMIM: 186350

Related Diseases for Syndactyly-Polydactyly-Earlobe Syndrome

Diseases related to Syndactyly-Polydactyly-Earlobe Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial iv 10.5
2 chromosome 2q35 duplication syndrome 10.5
3 polydactyly 10.5

Symptoms & Phenotypes for Syndactyly-Polydactyly-Earlobe Syndrome

Human phenotypes related to Syndactyly-Polydactyly-Earlobe Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 32 HP:0001177
2 abnormality of earlobe 32 HP:0000363
3 broad toe 32 HP:0001837
4 preaxial foot polydactyly 32 HP:0001841
5 bifid distal phalanx of toe 32 HP:0001853
6 1-2 toe complete cutaneous syndactyly 32 HP:0005767

Symptoms via clinical synopsis from OMIM:

57
Limbs:
complete cutaneous syndactyly of toes 1 and 2
ulnar polydactyly
broad/bifid great toe
complete, separate, preaxial extra toe

Ears:
deep horizontal groove or nodule of earlobes

Clinical features from OMIM:

186350

Drugs & Therapeutics for Syndactyly-Polydactyly-Earlobe Syndrome

Search Clinical Trials , NIH Clinical Center for Syndactyly-Polydactyly-Earlobe Syndrome

Genetic Tests for Syndactyly-Polydactyly-Earlobe Syndrome

Anatomical Context for Syndactyly-Polydactyly-Earlobe Syndrome

MalaCards organs/tissues related to Syndactyly-Polydactyly-Earlobe Syndrome:

41
Bone

Publications for Syndactyly-Polydactyly-Earlobe Syndrome

Articles related to Syndactyly-Polydactyly-Earlobe Syndrome:

# Title Authors PMID Year
1
Hallux syndactyly--ulnar polydactyly--abnormal ear lobes: a new syndrome. 38
182299 1976

Variations for Syndactyly-Polydactyly-Earlobe Syndrome

Expression for Syndactyly-Polydactyly-Earlobe Syndrome

Search GEO for disease gene expression data for Syndactyly-Polydactyly-Earlobe Syndrome.

Pathways for Syndactyly-Polydactyly-Earlobe Syndrome

GO Terms for Syndactyly-Polydactyly-Earlobe Syndrome

Sources for Syndactyly-Polydactyly-Earlobe Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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