Arthrogryposis - Pretibial, Vertical Shin Dimples

What is Arthrogryposis - Pretibial, Vertical Shin Dimples?

Arthrogryposis - Pretibial, Vertical Shin Dimples is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Hwu et al., 2004 reported a family in which maternal half-sisters were both affected. One sister had pretibial linear skin indentations. Hall (2006) described an additional six sibling pairs with suspected autosomal recessive skin indentations. The author suggested that these lesions might indicate an increased risk to unaffected parents.
Accordingly, Hall (2013) looked at 17 individuals from 14 families with linear vertical pretibial dimples. There were often dimples at other joints such as elbows and ankles. More than half of these individuals had dislocated hips at birth. They also had contractures at the knees and ankles, which resulted in a crouching stance, a vertical talus, and rocker bottom feet. The fingers showed camptodactyly with limited movement. Some families had intellectual disability as well, which may or may not be separate from this condition. Males often had undescended testes and a shawl scrotum as well.

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* This information is courtesy of the L M D.

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What gene changes cause Arthrogryposis - Pretibial, Vertical Shin Dimples?

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.

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Arthrogryposis - Pretibial, Vertical Shin Dimples?

The typical symptoms of the syndrome are:

How does someone get tested for Arthrogryposis - Pretibial, Vertical Shin Dimples?

The initial testing for Arthrogryposis - Pretibial, Vertical Shin Dimples 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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