Odontochondrodysplasia

Definition:

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.

References:

[1]. Anika Wehrle, et al. Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. JCI Insight. 2019 Feb 7;4(3):e124701. [Content Brief]

[2]. Caroline Lekszas, et al. Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion. Elife. 2020 Feb 26;9:e51319. [Content Brief]

[3]. Sheila Unger, et al. Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. [Content Brief]

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