Paula and Bobby
Parents of Lillie
Acrofacial Dysostosis - Palagonia Type
What is Acrofacial Dysostosis - Palagonia Type?
Acrofacial Dysostosis - Palagonia Type is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Sorge et al., (1997) reported three sibs, the offspring of non-consanguineous parents, with a form of acrofacial dysostosis. The hair was said to be frizzy or curly and there was pili torti with a aplasia cutis of the scalp. There was ectropion of the lower lids and a cleft lip in one case. All three sibs had short stature. There was mild cutaneous syndactyly of digits 2-5. The fourth metacarpals were thin. The atlas was said to be large in one case. The teeth were small and reduced in number. Intelligence was said to be normal. The mother was said to show mild malar hypoplasia, interdigital webbing and absence of upper lateral incisors.
* This information is courtesy of the L M D.
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What gene changes cause Acrofacial Dysostosis - Palagonia Type?
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.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 - Palagonia Type?
The typical symptoms of the syndrome are:
How does someone get tested for Acrofacial Dysostosis - Palagonia Type?
The initial testing for Acrofacial Dysostosis - Palagonia Type 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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