Paula and Bobby
Parents of Lillie
What is Craniometaphyseal Dysplasia?
This rare disease is a genetic condition that leads to the overgrowth of the bones in the head, arms and legs.
When this overgrowth causes the bones to push against each other, or together, many of the symptoms of this syndrome are triggered.
What gene changes cause Craniometaphyseal Dysplasia?
Mutations to the ANKH, GJA1 genes are responsible for causing the syndrome.
The syndrome may be inherited in an autosomal dominant and recessive pattern respectfully. This form of the condition leads to more severe symptoms, including those that may be life threatening.
When inherited in an autosomal dominant pattern the symptoms of the syndrome tend to be much less severe.
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 the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Craniometaphyseal Dysplasia?
The overgrowth of bones in the head, arms and legs causes many symptoms including widely spaced eyes, a wide nasal bridge, eyes that stick out further than the average, a long head. Many individuals have different shaped bones in the legs and arms. A hardening of the bones is also a symptom.
These abnormalities in the development and growth of the bones can make eating and breathing difficult, especially in infants
How does someone get tested for Craniometaphyseal Dysplasia?
The initial diagnosis of Craniometaphyseal Dysplasia 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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