Paula and Bobby
Parents of Lillie
What is ACTL6A-Related Disorder?
ACTL6A-Related Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Marom et al. (2017) described three unrelated patients with heterozygous mutations in the ACTL6A gene. Clinical characteristics included IUGR and postnatal failure to thrive, learning disabilities and intellectual disability (including individuals with cognitive assessment at the low-normal range), exercise intolerance, recurrent respiratory infections, gastroesophageal reflux, cardiac defects, renal anomalies (hydronephrosis, pelviectasis), hernia, and limb anomalies (broad fingers and toes with dystrophic nails, short distal phalanges, clinodactyly, syndactyly, brachydactyly, overriding toes, sandal gap). Dysmorphic features were coarse facies, broad forehead, narrow eyelids, broad nasal tip, poorly developed philtrum ridge and small chin.
* This information is courtesy of the L M D.
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What gene changes cause ACTL6A-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 ACTL6A-Related Disorder?
The typical symptoms of the syndrome are:
How does someone get tested for ACTL6A-Related Disorder?
The initial testing for ACTL6A-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.
What is FDNA Telehealth?
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