Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR)

What is Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR)?

Also known as TMCO1 defect syndrome, this genetic condition is characterized by abnormal development of the brain, face and torso.

The syndrome is characterized by severe intellectual disability, limited to zero speech development, and behavioral issues.

What gene changes cause Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR)?

Mutations in the TMCO1 gene are responsible for the syndrome. This is why it is also often referred to as TMCO1 defect syndrome. It is inherited in an autosomal recessive pattern.

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.

What are the main symptoms of Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR)?

The main symptoms of this syndrome include severe intellectual disability and delayed speech and motor skills. ¼ of individuals with the syndrome will never learn to speak, while ½ of all affected individuals will never walk.

Rib and spinal abnormalities are common with the syndrome- including fused ribs, fused vertebrae and scoliosis (curvature of the spine).

Facial and physical features of the syndrome include a wide, short skull, arched eyebrows that meet in the middle, widely spaced eyes, a wide nasal bridge, low set ears, an upper lip with obvious curves, small teeth, a cleft palate or lip, small teeth and an overgrowth of the gums.

In infancy individuals with the syndrome may experience hypotonia (low muscle tone) and issues with feeding.

Behavioral issues with the syndrome are also common: these might include anxiety, autism spectrum disorder, and self-injurious behavior.

How does someone get tested for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome (CFSMR)?

The initial diagnosis of Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

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

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

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.

Value for
Money

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.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!