Paula and Bobby
Parents of Lillie
Acrofacial Dysostosis - Autosomal Dominant
What is Acrofacial Dysostosis - Autosomal Dominant?
Acrofacial Dysostosis - Autosomal Dominant is a rare disease. It is also known as Acrofacial dysostosis - Reynolds type.
This condition is characterized by abnormal development of the hands and facial features, such as the jaw and eyes.
The facial characteristics of this syndrome are similar to mandibulofacial dysostosis but they are milder and variable. The acral abnormalities are also variable and predominantly affect the radial ray. These include hypoplasia of the 1st metacarpal and of the first proximal phalanx, and in one case, duplication of the thumb. It should be noted that the facial features might be bilateral ptosis, hypertelorism, a small jaw, and downslanting palpebral fissures with a phenotype that is difficult to recognise as Treacher Collins syndrome. The hand abnormalities can include a lack of the distal interphalangeal crease on digits 2 and 5. Nager syndrome must be considered in the differential diagnosis.
Dauwerse et al., (2002) reported an adult patient with features of the condition who also had tuberous sclerosis and autosomal dominant polycystic kidney disease. A microdeletion involving 16p13.3 was demonstrated.
Wessels et al., (2002) reported a baby, diagnosed prenatally at 25 weeks of gestation by ultrasound examination, with features of the condition. There was arrhinencephaly and abnormal lung lobulation on post mortem examination.
* This information is courtesy of the L M D.
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What gene changes cause Acrofacial Dysostosis - Autosomal Dominant?
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 Acrofacial Dysostosis - Autosomal Dominant?
The typical symptoms of the syndrome are:
How does someone get tested for Acrofacial Dysostosis - Autosomal Dominant?
The initial testing for Acrofacial Dysostosis - Autosomal Dominant 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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