Acro-pectoral syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SYNDACTYLY, PREAXIAL POLYDACTYLY, AND STERNAL DEFORMITY
ACRPS
acrp syndrome
Syndactyly - preaxial polydactyly - sternal deformity
Number of Symptoms 13
OrphanetNr: 85203
OMIM Id: 605967
ICD-10: Q74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002342) Intellectual disability, moderate rare [HPO:skoehler] 37 / 7739
2
 (HPO:0000765) Abnormality of the thorax Very frequent [Orphanet] 64 / 7739
3
 (HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
4
 (HPO:0100258) Preaxial polydactyly 39 / 7739
5
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
6
 (HPO:0000767) Pectus excavatum 244 / 7739
7
 (HPO:0000768) Pectus carinatum 136 / 7739
8
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
9
 (HPO:0003812) Phenotypic variability 129 / 7739
10
 (HPO:0001199) Triphalangeal thumb 56 / 7739
11
 (OMIM) Soft tissue syndactyly between all fingers (in 1 family) 1 / 7739
12
 (OMIM) Soft tissue syndactyly between all toes (in 1 family) 1 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dundar et al. (2001) reported a 6-generation Turkish family with a combination of distal limb and sternal abnormalities, inherited in an autosomal dominant fashion. All 22 affected subjects manifested soft tissue syndactyly of all fingers and toes, and ...