Paula and Bobby
Parents of Lillie
Microphthalmia with Limb Anomalies
What is Microphthalmia with Limb Anomalies?
A rare genetic syndrome and development disorder also known as Anophthalmia Waardenburg syndrome. The syndrome affects the development of the hands, feet and eyes.
What gene changes cause Microphthalmia with Limb Anomalies?
Changes in the SMOC1 gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
What are the main symptoms of Microphthalmia with Limb Anomalies?
The main symptoms of the syndrome affect the eyes, hands and feet of affected individuals. As a congenital disorder, the symptoms are present from birth.
Symptoms associated with abnormalities of the eyes include absent or underdeveloped eyes, or eyes that are very small. These symptoms usually affect both eyes.
Other main symptoms affect the hands and feet. This includes missing fingers and toes, digits that are fused together or in some cases extra fingers and toes.
The syndrome also presents with unique facial features and a cleft lip. Sometimes this also includes a cleft palate too.
Intellectual disability is also common with the syndrome.
How does someone get tested for Microphthalmia with Limb Anomalies?
The initial testing for Microphthalmia with Limb Anomalies can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.