MCID: ACR019
MIFTS: 21

Acropectoral Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Acropectoral Syndrome

MalaCards integrated aliases for Acropectoral Syndrome:

Name: Acropectoral Syndrome 57 76 53 59 13 73
Acrp Syndrome 57 53 59
Acrps 57 53
Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome 59
Syndactyly, Preaxial Polydactyly, and Sternal Deformity 57
Syndactyly, Preaxial Polydactyly and Sternal Deformity 53
Dundar Acropectoral Syndrome 57
Acro-Pectoral Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
acropectoral syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
acropectoral syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605967
Orphanet 59 ORPHA85203
UMLS via Orphanet 74 C1853812
ICD10 via Orphanet 34 Q74.0
MedGen 42 C1853812
UMLS 73 C1853812

Summaries for Acropectoral Syndrome

NIH Rare Diseases : 53 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acropectoral Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
3 preaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001177
4 pectus excavatum 32 HP:0000767
5 pectus carinatum 32 HP:0000768
6 intellectual disability, moderate 32 occasional (7.5%) HP:0002342
7 triphalangeal thumb 32 HP:0001199
8 partial duplication of thumb phalanx 32 HP:0009944
9 preaxial polydactyly 32 HP:0100258

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:

41
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 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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