MCID: CMP016
MIFTS: 17

Camptobrachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Camptobrachydactyly

MalaCards integrated aliases for Camptobrachydactyly:

Name: Camptobrachydactyly 57 53 59 73
Short Foot/brachydactyly of Toes, Camptodactyly , Brachydactyly 53

Characteristics:

Orphanet epidemiological data:

59
camptobrachydactyly
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
camptobrachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 114150
Orphanet 59 ORPHA1319
MESH via Orphanet 45 C537967
UMLS via Orphanet 74 C1861963
ICD10 via Orphanet 34 Q74.8
MedGen 42 C1861963
UMLS 73 C1861963

Summaries for Camptobrachydactyly

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1319Disease definitionCamptobrachydactyly is an extremely rare brachydactylysyndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.Visit the Orphanet disease page for more resources.

MalaCards based summary : Camptobrachydactyly, is also known as short foot/brachydactyly of toes, camptodactyly , brachydactyly. Affiliated tissues include bone, and related phenotypes are finger syndactyly and hypoplastic toenails

Description from OMIM: 114150

Related Diseases for Camptobrachydactyly

Symptoms & Phenotypes for Camptobrachydactyly

Symptoms via clinical synopsis from OMIM:

57
G U:
urinary incontinence
septate vagina

Limbs:
congenital finger flexion contractures
syndactyly
polydactyly
brachydactyly of hands and feet


Clinical features from OMIM:

114150

Human phenotypes related to Camptobrachydactyly:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
3 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
4 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
5 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
6 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
7 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
8 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
9 septate vagina 59 32 frequent (33%) Frequent (79-30%) HP:0001153
10 short toe 32 HP:0001831
11 hand polydactyly 32 HP:0001161
12 urinary incontinence 32 HP:0000020
13 congenital finger flexion contractures 32 HP:0005879
14 syndactyly 32 HP:0001159

Drugs & Therapeutics for Camptobrachydactyly

Search Clinical Trials , NIH Clinical Center for Camptobrachydactyly

Genetic Tests for Camptobrachydactyly

Anatomical Context for Camptobrachydactyly

MalaCards organs/tissues related to Camptobrachydactyly:

41
Bone

Publications for Camptobrachydactyly

Articles related to Camptobrachydactyly:

# Title Authors Year
1
Camptobrachydactyly: a new autosomal dominant trait with two probable homozygotes. ( 5031984 )
1972

Variations for Camptobrachydactyly

Expression for Camptobrachydactyly

Search GEO for disease gene expression data for Camptobrachydactyly.

Pathways for Camptobrachydactyly

GO Terms for Camptobrachydactyly

Sources for Camptobrachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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