Paula and Bobby
Parents of Lillie
Acro-osteolysis - PTHLH duplication
What is Acro-osteolysis - PTHLH duplication?
Acro-osteolysis - PTHLH duplication is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
The cases reported by Gray et al., (2014) had similarities with Hajdu-Cheney syndrome (see elsewhere). There was metaphseal flaring, lesions that radiologically looked like enchondromata, bowed long bones, acro-ostewolysis, progressive osteoporosis, coarsening of facial features (in one) unusualrib angulation and multiple fractures. The fathers of the first and third cases were mosaic for the duplication that involved PTHLH.
Flöttmann et al. (2016) described three patients from a family with osteochondrodysplasia due to a 70-kb duplication on chromosome 12p11.22 encompassing the PTHLH gene. Affected individuals had short humerus, bowed radius, and severe brachydactyly with features of types E and A1 but without the enchondromatas and the acroosteolysis. Metacarpals were hypoplastic and misshaped with accessory ossification centers at their proximal ends.
* This information is courtesy of the L M D.
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What gene changes cause Acro-osteolysis - PTHLH duplication?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acro-osteolysis - PTHLH duplication?
The typical symptoms of the syndrome are:
How does someone get tested for Acro-osteolysis - PTHLH duplication?
The initial testing for Acro-osteolysis - PTHLH duplication 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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