Cartilage-hair hypoplasia syndrome

Also known as McKusick type metaphyseal chondrodysplasia.

A rare genetic disorder that is a highly pleiotropic disorder.

Clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases.

CHH is an autosomal recessive inherited disorder.

Uniparental disomy, a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent, has also been observed with this disorder.

Associated with mutations near or within the ncRNA component of RNase has been identified.

The endoribonuclease RNase MRP is a complex of RNA molecule and several proteins and it participates on cleavage of mitochondrial primers responsible for DNA replication and on pre-rRNA processing in the nucleolus.

The locus of the gene has been mapped to the short arm of chromosome 9.

Patients usually suffer from cellular immunodeficiency, mild to moderate form of lymphopenia, decreased delayed type of hypersensitivity and impaired responses to phytohaemagglutinin.

Susceptibility to severe infections and mortality from infections early in childhood.

Patients often have increased predispositions to malignancies.

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