ACRPS
MCID: ACR019
MIFTS: 21

Acropectoral Syndrome (ACRPS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acropectoral Syndrome

MalaCards integrated aliases for Acropectoral Syndrome:

Name: Acropectoral Syndrome 58 77 54 60 13 74
Acrp Syndrome 58 54 60
Acrps 58 54
Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome 60
Syndactyly, Preaxial Polydactyly, and Sternal Deformity 58
Syndactyly, Preaxial Polydactyly and Sternal Deformity 54
Dundar Acropectoral Syndrome 58
Acro-Pectoral Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
acropectoral syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
f syndrome has many overlapping features
two families reported (last curated september 2012)


HPO:

33
acropectoral syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 605967
ICD10 via Orphanet 35 Q74.0
UMLS via Orphanet 75 C1853812
Orphanet 60 ORPHA85203
MedGen 43 C1853812
UMLS 74 C1853812

Summaries for Acropectoral Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85203Disease definitionAcro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominanttrait and the causative gene is located at 7q36.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acropectoral Syndrome, is also known as acrp syndrome. An important gene associated with Acropectoral Syndrome is ACRPS (Acropectoral Syndrome). Affiliated tissues include bone, and related phenotypes are finger syndactyly and abnormality of the thorax

Wikipedia : 77 Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet,... more...

Description from OMIM: 605967

Related Diseases for Acropectoral Syndrome

Symptoms & Phenotypes for Acropectoral Syndrome

Human phenotypes related to Acropectoral Syndrome:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
2 abnormality of the thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0000765
3 preaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001177
4 intellectual disability, moderate 33 occasional (7.5%) HP:0002342
5 pectus excavatum 33 HP:0000767
6 pectus carinatum 33 HP:0000768
7 triphalangeal thumb 33 HP:0001199
8 partial duplication of thumb phalanx 33 HP:0009944
9 preaxial polydactyly 33 HP:0100258

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
triphalangeal thumb
preaxial polydactyly
bifid thumb
soft tissue syndactyly between all fingers (in 1 family)

Neurologic Central Nervous System:
mental retardation, moderate (in 1 patient)

Skeletal Feet:
preaxial polydactyly
soft tissue syndactyly between all toes (in 1 family)

Clinical features from OMIM:

605967

Drugs & Therapeutics for Acropectoral Syndrome

Search Clinical Trials , NIH Clinical Center for Acropectoral Syndrome

Genetic Tests for Acropectoral Syndrome

Anatomical Context for Acropectoral Syndrome

MalaCards organs/tissues related to Acropectoral Syndrome:

42
Bone

Publications for Acropectoral Syndrome

Articles related to Acropectoral Syndrome:

# Title Authors Year
1
Acropectoral syndrome: extended spectrum or a new entity? ( 22183091 )
2012
2
A novel acropectoral syndrome maps to chromosome 7q36. ( 11333865 )
2001

Variations for Acropectoral Syndrome

Expression for Acropectoral Syndrome

Search GEO for disease gene expression data for Acropectoral Syndrome.

Pathways for Acropectoral Syndrome

GO Terms for Acropectoral Syndrome

Sources for Acropectoral Syndrome

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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