Paula and Bobby
Parents of Lillie
Frontometaphyseal Dysplasia (FMD)
What is Frontometaphyseal Dysplasia (FMD)?
This rare disease is one of several otopalatodigital spectrum disorders.
It affects the development of the skeleton and other organs in the body. It is diagnosed mainly in males (due to its mode of inheritance) and females affected usually present with less severe symptoms.
What gene changes cause Frontometaphyseal Dysplasia (FMD)?
Changes in the FLNA gene cause the syndrome. It is inherited in an X-linked pattern.
Frontometaphyseal Dysplasia Type 2 is caused by mutations in the MAP3K7 gene, and this form of the syndrome 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 Frontometaphyseal Dysplasia (FMD)?
The main symptoms of this syndrome include hearing loss, cleft palate and defects that affect the bones in the fingers and toes.
Unique to Frontometaphyseal Dysplasia are joint contractures, which affect how easily an individual can move their joints.
Unique facial features of the syndrome include wide-set and downward slanting eyes, a very small jaw, as well as small and potentially missing teeth.
Health conditions associated with the syndrome include heart defects and breathing issues.
How does someone get tested for Frontometaphyseal Dysplasia (FMD)?
The initial testing for Frontometaphyseal Dysplasia (FMD) 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.
Medical information on Frontometaphyseal Dysplasia (FMD)
Seven patients were reported by Basart et al., (2015) with facial features reminiscent of frontometaphyseal dysplasia but with features not usually found, such as Pobin sequence, trachael stenosis, intellectual disability and cleft palate. All developed keloids. No mutations were found in FLNA. Phenotypically the array of anomalies was vast, with many differences between the 7 patients.
* This information is courtesy of the L M D.
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