Paula and Bobby
Parents of Lillie
What is Acrofacial Dysostosis?
Acrofacial Dysostosis is a rare disease. It is also known as Afd, Catania Type.
* This information is courtesy of the L M D.
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What gene changes cause Acrofacial Dysostosis?
The syndrome is inherited in the following inheritance pattern/s:
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?
The typical symptoms of the syndrome are:
Single transverse palmar crease, Webbed neck, Cryptorchidism, Downslanted palpebral fissures, Finger syndactyly, Facial cleft, Displacement of the urethral meatus, Brachydactyly, Coarse hair, Clinodactyly of the 5th finger, Delayed skeletal maturation, Premature birth, Spina bifida occulta, Microcephaly, Short palm, Reduced number of teeth, Abnormality of the philtrum, Abnormal palate morphology, Abnormality of periauricular region, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Short nose, Cognitive impairment, Hernia of the abdominal wall, High forehead, Short stature, Hypoplasia of the zygomatic bone
How does someone get tested for Acrofacial Dysostosis?
The initial testing for Acrofacial Dysostosis 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?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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