Paula and Bobby
Parents of Lillie
What is Cahmr syndrome?
Cahmr syndrome is a rare disease. It is also known as CAHMR Cataract - hypertrichosis - mental retardation Cataract, Hypertrichosis, Mental Retardation Syndrome.
Temtamy and Sinbawy (1991) reported an Egyptian brother and sister, the offspring of first cousins, with mental retardation, cataracts, generalized hypertrichosis, microdontia and pectus excavatum.
* This information is courtesy of the L M D.
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What gene changes cause Cahmr syndrome?
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 - 211770 (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 Cahmr syndrome?
The typical symptoms of the syndrome are:
Cataract, Abnormal palate morphology, Cognitive impairment, Generalized hypertrichosis, Depressed nasal bridge, Hypertrichosis, Pectus excavatum, Microdontia, Intellectual disability, Low posterior hairline, Lamellar cataract, Autosomal recessive inheritance
How does someone get tested for Cahmr syndrome?
The initial testing for Cahmr syndrome 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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