All are true about cartilage, hair hypoplasia syndrome except –
High-Yield Explanation
Cartilage-hair hypoplasia syndrome
Cartilage-hair hypoplasia is an unusual form of short-limbed dwarfism with frequent and severe infections.
It is an autosomal recessive condition.
Feature of CHH
Short limb dwarfism.
Very fine thin light hairs and eyebrows.
Hyperextensible joints of hands and feet but an inability to extend.
Abnormalities of the spine.
Neutropenia
Defective antibody-mediated immunity.
Severe combined immunodeficiency and combined immunodeficiency.
Decreased number of T cells and defective T cell proliferation, cell-mediated immunity is also decreased.
Nothing is written about the function of T cell, only their number is decreased.