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.
Category
Ribosomopathy
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H01966 Cartilage-hair hypoplasia
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
Title
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
