Paula and Bobby
Parents of Lillie
Acrocephalopolysyndactyly Type IV
What is Acrocephalopolysyndactyly Type IV?
Acrocephalopolysyndactyly Type IV is a rare disease. It is also known as Acps Iv ACPSIV Goodman Syndrome.
Goodman et al., (1979) reported three sibs born to consanguineous parents with acrocephaly (craniosynostosis is not mentioned), post-axial polydactyly (in two of the sibs) and skin syndactyly (in all three) of all the fingers except the thumbs, and of all the toes. All three had brachydactyly and two had clinodactyly of all the fingers. Other facial features mentioned were an upward slant to the palpebral fissures, epicanthic folds, a prominent nose, a small jaw and crowded teeth. The best diagnostic criteria for this syndrome are in the hand rather than in the face, although within the sibship even these were variable. Other authors have suggested that these sibs may in fact have had Carpenter syndrome.
* This information is courtesy of the L M D.
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What gene changes cause Acrocephalopolysyndactyly Type IV?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 - 201020 (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 Acrocephalopolysyndactyly Type IV?
The typical symptoms of the syndrome are:
Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand, Syndactyly, Autosomal recessive inheritance, Oxycephaly, Radial deviation of finger, Camptodactyly, Clinodactyly, Joint contracture of the hand
How does someone get tested for Acrocephalopolysyndactyly Type IV?
The initial testing for Acrocephalopolysyndactyly Type IV 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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