by andywalsh | May 16, 2019 11:31 pm
It is defined as a condition in which there are multiple disorders. It is the inherited and autosomal recessive disorder. It is a genetic disorder and have unknown incidence. It is the most severe condition in skeletal disorders. It is mainly caused by the mutation in SLC26A2 gene. It helps in the making of protein and helps in the development of cartilage. It changes the cartilage into bone. The mutation in the gene disturbs the structure of cartilage and does not allow changing into the bone. It results in the skeletal problems as discussed above. They have different copies of gene in each cell. The parents with this recessive disorder are carriers of the copy of single gene. They do not show the signs and symptoms of this disorder.
It includes the short limbs, narrow chest, along with the prominent and rounded abdomen. Their fingers and toes are short and the feet is rotated inwards. The infants which are affected have a soft out pouching near the belly button which is also known as the umbilical hernia. It may be also present near the groin which is also known as an inguinal hernia.
There is no specific treatment for this disorder.
Source URL: https://alldiseases.org/achondrogenesis-type-1b/
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