Metaphyseal dysplasia without hypotrichosis

Definition:

Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency.

References:

[1]. Allison N Martin, et al. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219-26. [Content Brief]

[2]. L Bonafé, et al. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet. 2002 Feb;61(2):146-51. [Content Brief]

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