Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 causes CTDI by dysregulation of BMP-SMAD signaling.
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
H02558 Craniotubular dysplasia, Ikegawa type
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S
Title
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
