Cartilage-hair hypoplasia: Symptoms, Diagnosis and Treatment
By Dr. Stephen Nelson, MD · · Genetic Medicine
This article from Weyland-Yutani Health System's Genetic Medicine service line explains cartilage-hair hypoplasia in plain language.
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
This article is for general information and does not replace advice from your clinician.