ACRPS
MCID: ACR019
MIFTS: 20

Acropectoral Syndrome (ACRPS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acropectoral Syndrome

MalaCards integrated aliases for Acropectoral Syndrome:

Name: Acropectoral Syndrome 57 73 20 58 13 70
Acrp Syndrome 57 20 58
Acrps 57 20
Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome 58
Syndactyly, Preaxial Polydactyly, and Sternal Deformity 57
Syndactyly, Preaxial Polydactyly and Sternal Deformity 20
Dundar Acropectoral Syndrome 57
Acro-Pectoral Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
acropectoral syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
acropectoral syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 605967
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 71 C1853812
Orphanet 58 ORPHA85203
MedGen 41 C1853812
UMLS 70 C1853812

Summaries for Acropectoral Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85203 Definition A rare syndrome 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.

MalaCards based summary : Acropectoral Syndrome, also known as acrp syndrome, is related to acropectorovertebral dysplasia and chromosome 2q35 duplication syndrome. An important gene associated with Acropectoral Syndrome is ACRPS (Acropectoral Syndrome). Related phenotypes are preaxial hand polydactyly and finger syndactyly

Wikipedia : 73 Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet,... more...

More information from OMIM: 605967

Related Diseases for Acropectoral Syndrome

Diseases related to Acropectoral Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acropectorovertebral dysplasia 10.0
2 chromosome 2q35 duplication syndrome 10.0
3 polydactyly 10.0

Symptoms & Phenotypes for Acropectoral Syndrome

Human phenotypes related to Acropectoral Syndrome:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 abnormal thorax morphology 31 hallmark (90%) HP:0000765
4 intellectual disability, moderate 31 occasional (7.5%) HP:0002342
5 pectus carinatum 31 HP:0000768
6 pectus excavatum 31 HP:0000767
7 abnormality of the thorax 58 Very frequent (99-80%)
8 triphalangeal thumb 31 HP:0001199
9 partial duplication of thumb phalanx 31 HP:0009944
10 preaxial polydactyly 31 HP:0100258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

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

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)

Clinical features from OMIM®:

605967 (Updated 05-Apr-2021)

Drugs & Therapeutics for Acropectoral Syndrome

Search Clinical Trials , NIH Clinical Center for Acropectoral Syndrome

Genetic Tests for Acropectoral Syndrome

Anatomical Context for Acropectoral Syndrome

Publications for Acropectoral Syndrome

Articles related to Acropectoral Syndrome:

# Title Authors PMID Year
1
Acropectoral syndrome: extended spectrum or a new entity? 61 57
22183091 2012
2
A novel acropectoral syndrome maps to chromosome 7q36. 61 57
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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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