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.
Category
Ribosomopathy
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00518 Metaphyseal dysplasia without hypotrichosis
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
Title
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
