ACAN-Related Disorder

What is ACAN-Related Disorder?

ACAN-Related Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Mutations in ACAN cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age.

Xuyun Hu et al. (2017) investigated 218 Chinese children with non-syndromic short stature without significantly advanced bone age and found 3 protein truncating mutations. The prevalence of ACAN mutations in this cohort was 1.4%. Partial GH deficiency was detected in some of the individuals. Individuals with familial ACAN mutations exhibited severe short stature (mean height in males -4.29 SD; mean height in females -3.21 SD) without complains of arthritis or other skeletal problems.

Sentchordi-Montané et. al. (2018) described 16 patients with heterozygous mutations in the ACAN gene. All patients had short stature and brachydactyly. Clinically they were divided into two groups: 1) With mild abnormalities (14 patients): delayed bone age, frontal bossing, depressed nasal bridge and/or midfacial dysplasia, and 2) Spondyloepiphyseal dysplasia, Kimberly type (two patients) with platyspondyly.

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* This information is courtesy of the L M D.

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What gene changes cause ACAN-Related Disorder?

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 ACAN-Related Disorder?

The typical symptoms of the syndrome are:

How does someone get tested for ACAN-Related Disorder?

The initial testing for ACAN-Related Disorder 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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