Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 3 of 3 for Metaphyseal "chondrodysplasia," McKusick type
  1. Cartilage-hair hypoplasia 
    ... hair syndrome CHH McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, recessive type Genetic Testing Registry: Metaphyseal ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  2. RMRP gene 
    ... Health Condition More than 100 mutations that cause cartilage-hair hypoplasia have been identified in the RMRP gene. Approximately ... growth (hypotrichosis), and other signs and symptoms of cartilage-hair hypoplasia. More About This Health Condition RMRP gene mutations, ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  3. Anauxetic dysplasia 
    ... of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 ... CT, Rauch A. The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics