Paula and Bobby
Parents of Lillie
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
What is FDNA Telehealth?
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