Acro-spondylo-pubic dysostosis - cataracts - microcephaly

What is Acro-spondylo-pubic dysostosis - cataracts - microcephaly?

Acro-spondylo-pubic dysostosis - cataracts - microcephaly is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Chacon-Camacho et al., (2015) reported an adult male of normal intelligence with striking dysmorphic features. The head circumference was small and the supra-orbital ridges prominent. He had a long, stright nose. and bilateral cataracts. There was ptosis, irregular teeth and wide-spaced nipples and numerous extra nipples.. The middle finger of his right hand was missing and there were absent nails on the thumb and second finger. The thumb and second finger nails on the opposite hand were missing. There was severe right-sided talipes calcaneovalgus with dorsiflexion and on the left side talipes equinovarus. Syndactyly beteen toes 3 and 4 was present on the right side. The distal sacrum was absent as were the patellae on both sides. The knees had flexion contractures and there was evidence of webbing.

* This information is courtesy of the L M D.

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What gene changes cause Acro-spondylo-pubic dysostosis - cataracts - microcephaly?

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-spondylo-pubic dysostosis - cataracts - microcephaly?

The typical symptoms of the syndrome are:

How does someone get tested for Acro-spondylo-pubic dysostosis - cataracts - microcephaly?

The initial testing for Acro-spondylo-pubic dysostosis - cataracts - microcephaly 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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