Disease Information for Acropectoral syndrome (7q36)

Associated Diseases & Rule outs
Associated Disease & Complications
Hypoplastic pectoralis muscles
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Gene locus 7q36
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)

extremely rare muliple limb anomalies;gene locus 7q36;Turkish family reported with a combination of distal limb and sternal abnormalities, inherited in an autosomal dominant fashion; similarity between this phenotype and acropectorovertebral dysplasia (F syndrome), noted that in this syndrome the carpal, tarsal, and metatarsal synostoses and vertebral anomalies present in F syndrome were not seen. the preaxial polydactyly occurred in the feet as well as in the hands; Pre-axial polydactyly triphalangeal thumb-polysyndactyly mapped to 7q36

acropectoral syndrome with subset overlap of Acropectorovertebral syndrome is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All have soft tissue syndactyly of all fingers and all toes and most also have preaxial polydactyly of the hands and/or feet. In addition a prominent upper sternum and/or a blind ending, inverted U shaped sinus in the anterior chest wall


External Links Related to Acropectoral syndrome (7q36)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)