Paula and Bobby
Parents of Lillie
Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis
What is Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis?
Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Jalili (1989) described two maternal female first cousins from an inbred Arab pedigree. They had pendular nystagmus, hypermetropia and a retinal dystrophy causing severe photophobia and a cone-rod type of congenital amaurosis. In one case there was a small area of foveal atrophy affecting the maculae and vascular tortuosity. There was hypertrichosis of the face with bushy eyebrows, synophrys, coarse scalp hair and long, dense and crowded eyelashes arranged in two or three rows. There was also hypertrichosis of the trunk, especially around the nipples.
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
What gene changes cause Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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.
OMIM Number - 204110 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CNNM4 - 2q11.2
What are the main symptoms of Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis?
The typical symptoms of the syndrome are:
Intellectual disability, Photophobia, Nystagmus, Optic atrophy, Autosomal recessive inheritance, Hypermetropia, Hirsutism, Visual impairment, Synophrys, Thick eyebrow, Retinal dystrophy, Abnormal eyelash morphology, Congenital visual impairment, Coarse hair
How does someone get tested for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis?
The initial testing for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 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.
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.