Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.
Category
Congenital malformation
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
H02186 Spondyloepiphyseal dysplasia, Maroteaux type
Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
Title
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
