Living With Cartilage-hair hypoplasia
By Dr. Noah Ahmed, MD · · Genetic Medicine
Our Genetic Medicine team put together this overview of cartilage-hair hypoplasia for patients and families.
About this topic
Topic: cartilage-hair hypoplasia. An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
Related care
- mast cell stabilizer agent therapy
- dopamine receptor D1 agonist therapy
- chromosomal breakage analysis
- biopsy of nasolacrimal duct
Always talk with your care team before making decisions about your health. This content is educational only.