MCID: BRC093
MIFTS: 19

Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

MalaCards integrated aliases for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction:

Name: Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 56
Brachydactyly Preaxial with Hallux Varus and Thumb Abduction 52 71
Brachydactyly-Preaxial Hallux Varus Syndrome 12 58
Christian Brachydactyly 56 12
Dominant Preaxial Brachydactyly with Hallux Varus and Thumb Abduction 52
Preaxial Brachydactyly with Hallux Varus and Thumb Abduction 12

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-preaxial hallux varus syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, preaxial, with hallux varus and thumb abduction:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110962
OMIM 56 112450
ICD10 32 Q73.8
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1862162
Orphanet 58 ORPHA1278
MedGen 41 C1862162
UMLS 71 C1862162

Summaries for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Disease Ontology : 12 A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.

MalaCards based summary : Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction, also known as brachydactyly preaxial with hallux varus and thumb abduction, is related to brachydactyly. Affiliated tissues include bone, and related phenotypes are broad thumb and micrognathia

More information from OMIM: 112450

Related Diseases for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Diseases related to Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.1

Symptoms & Phenotypes for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Human phenotypes related to Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
4 radial club hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0004059
5 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
8 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
9 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
10 preaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001177
11 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
12 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
13 abnormal fingernail morphology 31 frequent (33%) HP:0001231
14 abnormality of the fingernails 58 Frequent (79-30%)
15 short thumb 31 HP:0009778
16 short hallux 31 HP:0010109
17 short distal phalanx of finger 31 HP:0009882
18 hallux varus 31 HP:0008080
19 hitchhiker thumb 31 HP:0001234

Symptoms via clinical synopsis from OMIM:

56
Limbs:
short metacarpals
short metatarsals
short abducted thumbs
short abducted first toes
short distal phalanges
more

Clinical features from OMIM:

112450

Drugs & Therapeutics for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Genetic Tests for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Anatomical Context for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

MalaCards organs/tissues related to Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction:

40
Bone

Publications for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Articles related to Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction:

# Title Authors PMID Year
1
Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity. 56
8209885 1994
2
New skeletal dysplasia with unique brachydactyly. 56
1632443 1992
3
Dominant preaxial brachydactyly with hallux varus and thumb abduction. 56
5082920 1972
4
Christian brachydactyly in a father and two daughters. 61
8614866 1995

Variations for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Expression for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Search GEO for disease gene expression data for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction.

Pathways for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

GO Terms for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

Sources for Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction

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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