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 56 52 71
Spel Syndrome 56 52
Hallux Syndactyly Ulnar Polydactyly Abnormal Ear Lobes 52
Syndactyly-Polydactyly-Ear Lobe Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
syndactyly-polydactyly-earlobe syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 186350
UMLS via Orphanet 72 C1861347
Orphanet 58 ORPHA3259
MedGen 41 C1861347
SNOMED-CT via HPO 68 205135003 263681008 445216006
UMLS 71 C1861347

Summaries for Syndactyly-Polydactyly-Earlobe Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3259 Definition A 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 31 HP:0001177
2 abnormality of earlobe 31 HP:0000363
3 preaxial foot polydactyly 31 HP:0001841
4 broad toe 31 HP:0001837
5 bifid distal phalanx of toe 31 HP:0001853
6 1-2 toe complete cutaneous syndactyly 31 HP:0005767

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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