Cartilage-hair hypoplasia

Definition:

Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, anemia, an increased incidence of cancer, and congenital immunodeficiency. Mutations in the RMRP gene that codes for an RNA subunit of the RNase MRP complex are the cause of CHH.

References:

[1]. Céline Bailly-Botuha, et al. Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. J Pediatr. 2008 Mar;152(3):429-33. [Content Brief]

[2]. L Bonafé, et al. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet. 2002 Feb;61(2):146-51. [Content Brief]

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