Paula and Bobby
Parents of Lillie
What is Otospondylomegaepiphyseal Dysplasia?
It is a rare genetic syndrome which affects the skeletal system of the body. It also presents with hearing loss and unique facial features. There have been just a few cases of the syndrome diagnosed worldwide. The syndrome and its symptoms are very similar to those of Weissenbacher-Zweymüller syndrome and Stickler syndrome type III, and many researchers believe they are all types of the same syndrome.
What gene changes cause Otospondylomegaepiphyseal Dysplasia?
Changes to the COL1A2 gene are responsible for causing the syndrome. The syndrome is inherited in an autosomal recessive and autosomal dominant pattern.
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.
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 Otospondylomegaepiphyseal Dysplasia?
The main symptoms of the syndrome affect the ears, the bones of the spine and the ends of the long bones in the arms and legs.
Individuals tend to have a short stature as well as short arms, hands and fingers.
Due to skeletal anomalies individuals tend to have back and joint pain, issues with joint movement and arthritis with early onset.
Unique facial features of the syndrome include protruding eyes, flattened bridge of the nose, upturned nose, large nasal tip and a small lower jaw. A cleft palate is very common.
How does someone get tested for Otospondylomegaepiphyseal Dysplasia?
The initial testing for Otospondylomegaepiphyseal Dysplasia 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?
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