MCID: CMP016
MIFTS: 15

Camptobrachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Camptobrachydactyly

MalaCards integrated aliases for Camptobrachydactyly:

Name: Camptobrachydactyly 58 54 60 74
Short Foot/brachydactyly of Toes, Camptodactyly , Brachydactyly 54

Characteristics:

Orphanet epidemiological data:

60
camptobrachydactyly
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
camptobrachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 114150
MESH via Orphanet 46 C537967
ICD10 via Orphanet 35 Q74.8
UMLS via Orphanet 75 C1861963
Orphanet 60 ORPHA1319
MedGen 43 C1861963
UMLS 74 C1861963

Summaries for Camptobrachydactyly

NIH Rare Diseases : 54 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 brachydactyly and camptodactyly of finger

Description from OMIM: 114150

Related Diseases for Camptobrachydactyly

Symptoms & Phenotypes for Camptobrachydactyly

Human phenotypes related to Camptobrachydactyly:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
2 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
3 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
4 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
5 ulnar deviation of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009465
6 septate vagina 60 33 frequent (33%) Frequent (79-30%) HP:0001153
7 hypoplastic toenails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001800
8 aplasia/hypoplasia of the thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009601
9 abnormal fingernail morphology 33 occasional (7.5%) HP:0001231
10 abnormality of the fingernails 60 Occasional (29-5%)
11 short toe 33 HP:0001831
12 hand polydactyly 33 HP:0001161
13 urinary incontinence 33 HP:0000020
14 congenital finger flexion contractures 33 HP:0005879
15 syndactyly 33 HP:0001159

Symptoms via clinical synopsis from OMIM:

58
G U:
urinary incontinence
septate vagina

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

Clinical features from OMIM:

114150

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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