Disease Information for Acropectoral syndrome (7q36)

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Associated Diseases & Rule outs
Associated Disease & Complications
Hypoplastic pectoralis muscles
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
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
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
Definition

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

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