All are true about cartilage, hair hypoplasia syndrome Except –
**Core Concept**
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder characterized by sparse and brittle hair, short-limbed dwarfism, and cartilage abnormalities. It is caused by mutations in the RMRP gene, which encodes a ribonuclease involved in the processing of ribosomal RNA.
**Why the Correct Answer is Right**
Cartilage-hair hypoplasia syndrome is a congenital disorder that affects the development of cartilage and hair. The RMRP gene plays a crucial role in the processing of ribosomal RNA, and mutations in this gene lead to the characteristic features of CHH. The disorder is associated with impaired cell growth and differentiation, resulting in short-limbed dwarfism and sparse, brittle hair.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not provided.
**Option B:** This option is not provided.
**Option C:** This option is not provided.
**Option D:** This option is not provided.
**Clinical Pearl / High-Yield Fact**
CHH is a rare genetic disorder with an autosomal recessive inheritance pattern. It is essential to recognize the characteristic features of CHH, including sparse and brittle hair, short-limbed dwarfism, and cartilage abnormalities, to make an accurate diagnosis.
**Correct Answer:** Not provided