Paula and Bobby
Parents of Lillie
Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)
What is Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
This rare disease was first identified in 2003. Individuals with Noonan Syndrome-Like Disorder with Loose Anagen Hair display some of the unique facial features of Noonan syndrome, combined with the sparse hair of Anagen syndrome.
These unique facial features include a large head (macrocephaly) and wide-set eyes among others.
What gene changes cause Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
Mutations in the SHOC2 gene are responsible for the syndrome.
The mutations currently recorded appear to all be of the de novo type. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
Individuals present with similar facial features to those with Noonan syndrome. This includes a small head, high forehead, wide-set eyes, a short neck, short stature and low set, rotated ears.
These features are combined with Anagen syndrome like hair- hair that is thin, sparse and for the most part slow growing.
Other health conditions associated with the syndrome include congenital heart defects, pigmented skin and other related conditions such as eczema and developmental delay.
How does someone get tested for Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)?
The initial testing for Noonan Syndrome-Like Disorder with Loose Anagen Hair 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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