Paula and Bobby
Parents of Lillie
Acrogeria, Gottron Type
What is Acrogeria, Gottron Type?
Acrogeria, Gottron Type is a rare disease. It is also known as Acrogeria Acrometageria EDS IV Ehlers-Danlos syndrome - vascular type Metageria.
Gilkes et al., (1977) described an unrelated male and female with a premature ageing syndrome resembling acrogeria. The patients were tall and thin with pinched facies, thin noses, and atrophic skin with mottled hyperpigmentation and telangiectasia. There was generalised loss of subcutaneous tissue, thin fine hair, early atherosclerosis and diabetes mellitus. Onset was in childhood.
Kaufman et al., (1985) reported a case where the sister and mother were thought to have features of acrogeria. Greally et al., (1992) reported a 16-year-old boy with features of both acrogeria and metageria who was mentally retarded. They coined the term 'acrometageria' (not helpful). Investigations revealed apparently normal type III collagen secretion but marginally increased excretion of hyaluronic acid.
* This information is courtesy of the L M D.
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What gene changes cause Acrogeria, Gottron Type?
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.
OMIM Number - 201200 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
COL3A1 - 2q32.2
What are the main symptoms of Acrogeria, Gottron Type?
The typical symptoms of the syndrome are:
Cognitive impairment, Short stature, Short foot, Fine hair, Thin skin, Convex nasal ridge, Prematurely aged appearance, Short palm, Scoliosis, Skeletal dysplasia, Skin ulcer, Telangiectasia of the skin, Micrognathia, Irregular hyperpigmentation, Lipoatrophy, Joint hypermobility
How does someone get tested for Acrogeria, Gottron Type?
The initial testing for Acrogeria, Gottron Type 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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