Paula and Bobby
Parents of Lillie
What is Acrocapitofemoral Dysplasia?
Acrocapitofemoral Dysplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Mortier et al., (2003) reported four children from two consanguineous pedigrees with an unusual form of skeletal dysplasia. There was short stature, brachydactyly, a narrow thorax and a relatively large head. Radiographs showed cone shaped epiphyses in the hands and to a variable degree in the shoulders, knees, and ankles. Premature fusion between the epiphyses and the metaphyses of the femoral heads resulted in an 'egg shaped' femoral head, and very short femoral necks. From the photographs there appeared to be some rhisomelic shortening of the upper limbs in some cases. The authors note the similarity to the case reported by Hoeffel et al., (1987).
Hellemans et al., (2003) mapped the gene to 2q35-q36 and demonstrated mutations in the Indian hedghog IHH gene.
* This information is courtesy of the L M D.
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What gene changes cause Acrocapitofemoral Dysplasia?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acrocapitofemoral Dysplasia?
The typical symptoms of the syndrome are:
How does someone get tested for Acrocapitofemoral Dysplasia?
The initial testing for Acrocapitofemoral 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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