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Is Cartilage-hair hypoplasia (CHH) hereditary?

Here you can see if Cartilage-hair hypoplasia (CHH) can be hereditary. Do you have any genetic components? Does any member of your family have Cartilage-hair hypoplasia (CHH) or may be more predisposed to developing the condition?

Is Cartilage-hair hypoplasia (CHH) hereditary?

Yes, Cartilage-hair hypoplasia (CHH) is hereditary. It is an autosomal recessive disorder, which means that both parents must carry a copy of the mutated gene for their child to inherit the condition. CHH affects the development of cartilage and hair, leading to short stature and other skeletal abnormalities. Genetic counseling is recommended for individuals with a family history of CHH to understand the risk of passing on the condition to their children.



Cartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects the development of cartilage and hair in the body. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected.



The gene responsible for CHH is called RMRP, and mutations in this gene lead to the characteristic features of the disorder. Individuals with CHH have short stature, a form of dwarfism, due to the impaired growth of their bones. They also have sparse and fine hair, which may be lighter in color than usual.



Since CHH is a hereditary condition, it can be passed down from generation to generation. If both parents are carriers of the mutated RMRP gene, there is a 25% chance with each pregnancy that their child will have CHH, a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will not inherit the gene at all.



It is important for individuals with a family history of CHH or those who suspect they may be carriers to seek genetic counseling. Genetic testing can help determine the risk of passing on the condition and provide information for family planning decisions.


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