Paula and Bobby
Parents of Lillie
Ankyloblepharon - alveolar synechia - ectodermal dysplasia
What is Ankyloblepharon - alveolar synechia - ectodermal dysplasia?
Ankyloblepharon - alveolar synechia - ectodermal dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Ankyloblepharon, synechiae joining the upper and lower jaws and lip pits can all be associated with facial clefting, ectodermal dysplasias and popliteal web syndromes. Ohishi et al., (1991) reported a male, the offspring of first cousins once removed, with ankyloblepharon filiforme adnatum, oral synechiae, commissural lip pits (ie: situated at the angle of the mouth), woolly hair and hypoplastic nails. There were no clefts. This patient may have a form of CHANDS syndrome (qv).
Seres-Santamaria et al., (1993) reported similarly affected sibs, who also had cleft palate. An erythematous macular rash was present on the hands soon after birth. The nails were dystrophic.
* This information is courtesy of the L M D.
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What gene changes cause Ankyloblepharon - alveolar synechia - ectodermal dysplasia?
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 Ankyloblepharon - alveolar synechia - ectodermal dysplasia?
The typical symptoms of the syndrome are:
How does someone get tested for Ankyloblepharon - alveolar synechia - ectodermal dysplasia?
The initial testing for Ankyloblepharon - alveolar synechia - ectodermal dysplasia 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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