Paula and Bobby
Parents of Lillie
Alopecia - Onychodysplasia - Hypohidrosis - Deafness
What is Alopecia - Onychodysplasia - Hypohidrosis - Deafness?
Alopecia - Onychodysplasia - Hypohidrosis - Deafness is a rare disease. It is also known as AOHD.
Freire-Maia et al., (1977; 1984) described a condition characterized by sensorineural deafness, extensive hypotrichosis with absent eyebrows and sparse lashes, generalized hyperpigmentation of the skin, hyperkeratosis of the palms and soles and hypohidrosis. There was said to be anonychia at birth but in childhood the fingernails were reported as normal and the toenails were thick and darkish with subungual hyperkeratosis and 'irregularities of the free margins'. Photophobia, hypermetropia, strabismus, non-specific EEG anomalies, short stature, and a retarded bone age may also be part of the condition.
* This information is courtesy of the L M D.
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What gene changes cause Alopecia - Onychodysplasia - Hypohidrosis - Deafness?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Alopecia - Onychodysplasia - Hypohidrosis - Deafness?
The typical symptoms of the syndrome are:
How does someone get tested for Alopecia - Onychodysplasia - Hypohidrosis - Deafness?
The initial testing for Alopecia - Onychodysplasia - Hypohidrosis - Deafness can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
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