Paula and Bobby
Parents of Lillie
Arms, Malformation Of
What is Arms, Malformation Of?
Arms, Malformation Of is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Several individuals from a large, irregular autosomal dominant pedigree were described by Stiles and Dougan (1940) with severely shortened upper limbs. There were various combinations of radio-ulnar synostosis, absent thumbs and fingers, hypoplastic humeri and hooked clavicles. There were similarities to Holt-Oram syndrome, but cardiac defects were not reported. Holmes and Borden (1974) reported a similarly affected mother and son.
Dogra et al., (2003) reported a single case of radioulnar synostosis, with absent thumbs and " duplication of the index finger (left) and middle finger (right)". His hands were held in pronation.
* This information is courtesy of the L M D.
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What gene changes cause Arms, Malformation Of?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 - 107900 (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 Arms, Malformation Of?
The typical symptoms of the syndrome are:
Hypoplasia of the ulna, Hypoplasia of the radius, Autosomal dominant inheritance, Radioulnar synostosis
How does someone get tested for Arms, Malformation Of?
The initial testing for Arms, Malformation Of 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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