MCID: HLL014
MIFTS: 13

Hallux Varus and Preaxial Polysyndactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hallux Varus and Preaxial Polysyndactyly

MalaCards integrated aliases for Hallux Varus and Preaxial Polysyndactyly:

Name: Hallux Varus and Preaxial Polysyndactyly 57 20
Kleiner Holmes Syndrome 20 70
Hallux Varus-Preaxial Polysyndactyly Syndrome 58
Kleiner-Holmes Syndrome 58

Characteristics:

OMIM®:

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


HPO:

31
hallux varus and preaxial polysyndactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 234280
ICD10 via Orphanet 33 Q74.2
UMLS via Orphanet 71 C1856197
Orphanet 58 ORPHA2110
MedGen 41 C1856197
UMLS 70 C1856197

Summaries for Hallux Varus and Preaxial Polysyndactyly

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2110 Definition Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.

MalaCards based summary : Hallux Varus and Preaxial Polysyndactyly, is also known as kleiner holmes syndrome. Related phenotypes are sandal gap and clinodactyly of the 5th finger

More information from OMIM: 234280

Related Diseases for Hallux Varus and Preaxial Polysyndactyly

Symptoms & Phenotypes for Hallux Varus and Preaxial Polysyndactyly

Human phenotypes related to Hallux Varus and Preaxial Polysyndactyly:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
2 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
3 preaxial hand polydactyly 31 HP:0001177
4 hallux varus 31 HP:0008080
5 syndactyly 31 HP:0001159
6 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
hallux varus
broad great toes
preaxial polysyndactyly
duplication or triplication of phalanges

Clinical features from OMIM®:

234280 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hallux Varus and Preaxial Polysyndactyly

Search Clinical Trials , NIH Clinical Center for Hallux Varus and Preaxial Polysyndactyly

Genetic Tests for Hallux Varus and Preaxial Polysyndactyly

Anatomical Context for Hallux Varus and Preaxial Polysyndactyly

Publications for Hallux Varus and Preaxial Polysyndactyly

Articles related to Hallux Varus and Preaxial Polysyndactyly:

# Title Authors PMID Year
1
Brief clinical report: hallux varus and preaxial polysyndactyly in brothers. 61 57
6255798 1980

Variations for Hallux Varus and Preaxial Polysyndactyly

Expression for Hallux Varus and Preaxial Polysyndactyly

Search GEO for disease gene expression data for Hallux Varus and Preaxial Polysyndactyly.

Pathways for Hallux Varus and Preaxial Polysyndactyly

GO Terms for Hallux Varus and Preaxial Polysyndactyly

Sources for Hallux Varus and Preaxial Polysyndactyly

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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