Paula and Bobby
Parents of Lillie
Acropectoral syndrome; ACRPS
What is Acropectoral syndrome; ACRPS?
Acropectoral syndrome; ACRPS is a rare disease. It is also known as Acropectoral syndrome Acrp Syndrome Syndactyly, Preaxial Polydactyly, And Sternal Deformity.
Dundar et al., (2001) reported a large autosomal dominant pedigree segregating for a form of "acropectoral syndrome". Affected individuals had pre-axial polydactyly of the hands, ranging from a broad or bifid distal phalanx of the thumb to duplication of the thumb, or triphalangeal thumbs. Occasionally this could be associated with an extra metacarpal lying between the first and second metacarpals. There could also be pre-axial polydactyly of the toes, usually associated with an extra metatarsal. In some cases there was hypoplasia of the head of the first metatarsal and absence of both phalanges of the hallux. In addition, there appeared to be soft tissue syndactyly of the digits of the hands and feet. Many cases had a pectus carinatum of the upper sternum and/or a pectus excavatum of the lower sternum with a blind ending, inverted U-shaped sinus in the anterior chest wall. CT scans in one case showed a bony defect in the sternum. The gene was mapped to 7q36.
A further family from south India was reported by Prashanth et al., (2012). The proband had no soft tissue syndactyly. There was some evidence that a sib had died of something similar, and mother's father was said to have been affected.
* This information is courtesy of the L M D.
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What gene changes cause Acropectoral syndrome; ACRPS?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 605967 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acropectoral syndrome; ACRPS?
The typical symptoms of the syndrome are:
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, Autosomal dominant inheritance, Finger syndactyly, Intellectual disability, moderate, Pectus excavatum, Phenotypic variability, Preaxial polydactyly, Triphalangeal thumb, Abnormality of the thorax
How does someone get tested for Acropectoral syndrome; ACRPS?
The initial testing for Acropectoral syndrome; ACRPS can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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