Odontochondrodysplasia 2 with hearing loss and diabetes (ODCD2)
Description
Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, brachydactyly, joint laxity, and dental anomalies. It has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification.
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
H02349 Odontochondrodysplasia
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E
Title
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
