Paula and Bobby
Parents of Lillie
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
What is Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation?
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Two mentally handicapped sibs were reported by Hornova and Dluhosova (1968). Within the first year of life their eyelids became swollen, followed by the formation of a semi-transparent membrane over the surface of the eyes with subsequent blindness. At a later stage the gums began to bleed. They became hypertrophic, and the teeth began to fall out. Histologically there were amyloid deposits and extensive chronic inflammatory infiltrates. Further examination of the eyes revealed corneal vascularization, bilateral cataracts, conjunctival deposits of amyloid and atrophy of the whole globe.
* This information is courtesy of the L M D.
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What gene changes cause Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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.
OMIM Number - 204850 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation?
The typical symptoms of the syndrome are:
Blindness, Abnormality of the mouth, Amyloidosis, Intellectual disability, Autosomal recessive inheritance, Opacification of the corneal stroma
How does someone get tested for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation?
The initial testing for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 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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