MCID: BRC037
MIFTS: 14

Brachydactyly Type A7

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Brachydactyly Type A7

MalaCards integrated aliases for Brachydactyly Type A7:

Name: Brachydactyly Type A7 52 58
Brachydactyly, Smorgasbord Type 58
Brachydactyly Smorgasbord Type 52

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a7
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q73.8
Orphanet 58 ORPHA93397
SNOMED-CT via HPO 68 122480009 205145001 415692008

Summaries for Brachydactyly Type A7

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93397 Definition Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. Epidemiology It has been reported in one family. Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly Type A7, is also known as brachydactyly, smorgasbord type. Affiliated tissues include bone, and related phenotypes are sandal gap and hallux valgus

Related Diseases for Brachydactyly Type A7

Symptoms & Phenotypes for Brachydactyly Type A7

Human phenotypes related to Brachydactyly Type A7:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
2 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
3 short hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010109
4 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
5 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
6 short 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009536
7 radial deviation of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009467
8 finger symphalangism 58 31 occasional (7.5%) Occasional (29-5%) HP:0009700
9 broad distal phalanx of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009642
10 medially deviated second toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0008096
11 ulnar deviation of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009464
12 triangular epiphysis of the middle phalanx of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009523
13 absent middle phalanx of 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009576
14 broad phalanges of the 2nd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010348
15 short middle phalanx of the 5th toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0100394
16 broad thumb 58 Occasional (29-5%)
17 aplasia/hypoplasia of the middle phalanges of the hand 58 Frequent (79-30%)

Drugs & Therapeutics for Brachydactyly Type A7

Search Clinical Trials , NIH Clinical Center for Brachydactyly Type A7

Genetic Tests for Brachydactyly Type A7

Anatomical Context for Brachydactyly Type A7

MalaCards organs/tissues related to Brachydactyly Type A7:

40
Bone

Publications for Brachydactyly Type A7

Articles related to Brachydactyly Type A7:

# Title Authors PMID Year
1
Brachydactyly type A-7 (Smorgasbord): a new entity. 61
2714013 1989

Variations for Brachydactyly Type A7

Expression for Brachydactyly Type A7

Search GEO for disease gene expression data for Brachydactyly Type A7.

Pathways for Brachydactyly Type A7

GO Terms for Brachydactyly Type A7

Sources for Brachydactyly Type A7

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
Content
Loading form....