What are the characteristics of cartilage-hair hypoplasia-caused aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Cartilage-hair hypoplasia, which is caused by mutations in the RMRP gene, is inherited in an autosomal recessive manner. This condition is characterized by the following:

  • Short stature with short and bowed limbs
  • Sparse, lightly pigmented hair
  • Variably severe immune deficiency
  • Anemia during childhood
  • Hematopoietic malignancies, as well as malignancies of the skin, eyes, and liver
  • Gastrointestinal malformations and malabsorption

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