What are the symptoms of cartilage hair hypoplasia?

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Light, fine, sparse hair.
Loose ligaments in the elbows, causing instability.
Bowing of their legs (genu varum)
Possible neck instability.
Risk of infections due to a change in immunity (which is protection from infections)
Risk of anemia, which lessens with age.

What causes cartilage hair hypoplasia?

Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene.

How long do people with cartilage hair hypoplasia live?

What Is the Prognosis for an Individual with Cartilage-Hair Hypoplasia? Individuals with CHH can live a normal lifespan. Those with severe immunodeficiency need to monitor their health more closely. Opportunistic infections can be fatal, particularly in childhood.

Is cartilage hair hypoplasia rare?

McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia (CHH), is a rare inherited disorder marked by unevenly short arms and legs (short-limbed dwarfism), increased joint mobility (hypermobility), and fine silky hair.

What is Seckel syndrome?

Seckel syndrome is rare genetic condition with slow growth before birth (intrauterine growth restriction) resulting in low birth weight. Slow growth continues after birth (postnatal), causing short height (dwarfism). Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability.

What is a Sudo child?

What is pseudoachondroplasia? Pseudoachondroplasia is a rare, inherited disorder that affects bone growth. It affects one in 30,000 people. The condition is also referred to as pseudoachondroplastic dysplasia or pseudoachondroplastic spondyloepiphyseal dysplasia.

What is Harper’s disease?

Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper’s syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive.