Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia

What is Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia?

Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia is a rare disease. It is also known as Chondrodysplasia punctata - acro-sponylar type.

Kozlowski and Majewski (1990) reported two unrelated cases with an unclassified form of chondrodysplasia punctata. The changes were mainly confined to the hands, feet and spine. The tubular bones of the hands and feet were irregular and hypoplastic and there were irregular calcifications at the base of the metacarpals and metatarsals. There was poor ossification of the vertebral bodies with punctate calcifications, especially in the cervical spine. There were also butterfly vertebrae and sagittal clefts of the lumbar vertebrae. The long bones, pelvis, scapulae and clavicles were normal.
The authors suggest that cases 5 and 6 in the report by Lawrence et al., (1989) may have the same condition.

* This information is courtesy of the L M D.

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What gene changes cause Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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-Spondylar Variant of Punctate Epiphyseal Dysplasia?

The typical symptoms of the syndrome are:

How does someone get tested for Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia?

The initial testing for Acro-Spondylar Variant of Punctate Epiphyseal Dysplasia 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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