Paula and Bobby
Parents of Lillie
Bosma Arhinia Microphthalmia syndrome
What is Bosma Arhinia Microphthalmia syndrome?
This rare disease is a genetic condition currently diagnosed in less than 100 individuals worldwide.
The dominant features of this syndrome affect mainly the nose and ears of affected individuals.
It also can affect and delay the puberty of individuals with the condition.
What gene changes cause Bosma Arhinia Microphthalmia syndrome?
Mutations to the SMCHD1 gene are responsible for the syndrome. It is inherited in an 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.
What are the main symptoms of Bosma Arhinia Microphthalmia syndrome?
One of the main symptoms of the condition is arhinia, which is the absence of an external nose. Individuals may be born with no nose or a very underdeveloped one. Individuals may also be affected by an absence of sinuses from behind the nose.
The syndrome also affects how the brain develops in regards to the olfactory bulb which provides our sense of smell. Individuals may have an underdeveloped or lacking sense of smell and taste.
Symptoms related to the eyes include very small or absent eyeballs which can lead to problems with vision and blindness. Cataracts are common in individuals with the syndrome.
A cleft or very high arched palate is also a common feature of the syndrome.
Individuals may also experience delayed puberty.
How does someone get tested for Bosma Arhinia Microphthalmia syndrome?
The initial testing for Bosma Arhinia Microphthalmia syndrome 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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