MDWH is caused by <i>RMRP</i> mutations, but it is differentiated from the allelic condition cartilage-hair hypoplasia (CHH), which in addition to chondrodysplasia is characterised by thin hair, immunodeficiency and increased risk of malignancy.
Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency, and increased risk of malignancies.
Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by <i>RMRP</i> (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations.
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.