Anauxetic dysplasia 2

What is Anauxetic dysplasia 2?

Anauxetic dysplasia 2 is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

POP1 mutations have been described in individuals with features similar to anauxetic dysplasia. Barraza-García et al. (2017) described two patients with skeletal dysplasia and biallelic mutations in POP1. Clinical features included short stature, hyperlordosis, broad chest, brachydactyly, cubitus valgus, and a limited elbow extension. Radiological features were irregular vertebral end plates, posterior scalloping of lumbar vertebrae, delayed ossification, irregular metaphyses of the long bones, cone shaped epiphyses, bullet shaped phalanges, and scoliosis. One of the patients had short neck and prominent heels. The more severely affected patient had sparse hypopigmented hair, hypodontia, hip flexion deformity and developmental delay. Brain MRI showed hyperintensity of the subcortical and periventricular white matter and subcortical bitemporal edema.

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* This information is courtesy of the L M D.

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What gene changes cause Anauxetic dysplasia 2?

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 Anauxetic dysplasia 2?

The typical symptoms of the syndrome are:

How does someone get tested for Anauxetic dysplasia 2?

The initial testing for Anauxetic dysplasia 2 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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