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Cartilage-hair hypoplasia

Nicholas L Rider, DO
Section Editor
Jordan S Orange, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


Cartilage-hair hypoplasia (CHH; MIM #250250) is a skeletal dysplasia inherited as an autosomal recessive trait. CHH is sometimes also referred to as immunodeficiency with short-limbed dwarfism. It is caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene [1]. Common features of the disorder include short stature, fine sparse hair, varying degrees of immunodeficiency, Hirschsprung disease (HD), and a susceptibility to hematologic malignancies [2,3]. Individuals with CHH have normal intelligence and achieve normal developmental milestones throughout childhood.

CHH is diagnosed clinically by observing fine and often sparse hair in an individual with short stature with disproportionally short limbs. Genetic analysis of the RMRP gene confirms the diagnosis. Immune-related complications (immunodeficiency, malignancy, and autoimmune disease) lead many to medical attention early in life and are a major cause of early mortality.

This topic will review the pathogenesis, clinical manifestations, diagnosis, and management of CHH. Other syndromic immunodeficiencies are discussed separately. (See "Syndromic immunodeficiencies".)


CHH is a rare disorder in the general population but exists with greater prevalence among the Old Order Amish and Finnish populations [4]. Thus, any person with short stature and immunodeficiency with Amish or Finnish inheritance should be evaluated for CHH.

One Finnish study estimated an incidence of 1:23,000 [5]. The carrier frequency of a point mutation in the ribonuclease mitochondrial RNA-processing gene (RMRP 70 A>G) is estimated to be as high as 1 in 19 among the Old Order Amish [1].

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Literature review current through: Nov 2017. | This topic last updated: Oct 11, 2016.
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