Acrofacial dysostosis - severe limb defects

What is Acrofacial dysostosis - severe limb defects?

Acrofacial dysostosis - severe limb defects is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

There may be a severe form of acrofacial dysostosis with post-axial defects. Rodriguez and Palacios (1990) described a stillborn female with maxillary, malar and mandibular hypoplasia, low-set, malformed ears and a coloboma of the left lower lid. The tongue was bilobed and there was a cleft of the soft palate. There was bilateral syndactyly of the 4th and 5th fingers, synostosis of the 4th and 5th metacarpals and absent ulnae. The scapulae were hypoplastic with absence of the lower half. The clavicles were broad and short. There was humero-radial synostosis. The femurs were hypoplastic and fused to the tibiae and the fibulae were separated into proximal and distal parts. The 4th and 5th toes were fused. There were hemivertebrae in the sacrum and absent ischial and pubic bones. Poissonnier et al., (1983) described a similar case. Stephan (1990) reported an even more severely affected case.
See also acrofacial dysostosis, type Rodriguez.

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* This information is courtesy of the L M D.

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What gene changes cause Acrofacial dysostosis - severe limb defects?

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Acrofacial dysostosis - severe limb defects?

The typical symptoms of the syndrome are:

How does someone get tested for Acrofacial dysostosis - severe limb defects?

The initial testing for Acrofacial dysostosis - severe limb defects 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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