Understanding Cartilage-hair hypoplasia
By Dr. Anthony Smith, DO · · Genetic Medicine
Patients often ask us about cartilage-hair hypoplasia. Here is what our Genetic Medicine clinicians want you to know.
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.
Mentioned in this article
Related care
- mast cell stabilizer agent therapy
- dopamine receptor D1 agonist therapy
- chromosomal breakage analysis
This article is for general information and does not replace advice from your clinician.