Cartilage-hair hypoplasia

McKusick Type Metaphyseal Chondrodysplasia is a rare progressive inherited disorder which include neutropenia, together with T-and B-cell lymphopenia. The disease is inherited as an autosomal recessive trait, the gene being located on chromosome 9. CHH occurs particularly in Finland and older Amish in America.

Alternative names

CHH

Metaphyseal chondrodysplasia, McKusick type

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

Autosomal recessive

OMIM

#250250 Cartilage-hair hypoplasia; CHH

*157660 Mitochondrial RNA-processing endoribonuclease, RNA component of; RMRP

Cross references

Incidence

Incidence unknown.