Oculodentodigital dysplasia
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Synopsis

Extremely rare, an autosomal-recessive inherited variation is characterized by failure to thrive, psychomotor retardation, hypotonia, and growth hormone insufficiency, in addition to the typical syndromic abnormalities.
This is a rare condition with less than 1000 cases reported worldwide.
Genetic mutation of the GJA1 gene causes ODDD. GJA1 gene mutations result in abnormal connexin43 proteins that are a vital component of cellular gap junctions. The impaired cellular communication disrupts normal cell growth and differentiation, resulting in the systemic malformations found with ODDD.
Codes
ICD10CM:Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
SNOMEDCT:
38215007 – Oculodentodigital syndrome
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Differential Diagnosis & Pitfalls
- Axenfeld-Rieger syndrome
- Amelogenesis imperfecta
- Ectodermal dysplasia
- Orocraniodigital syndrome
- Saethre-Chotzen syndrome
- Hallermann-Streiff syndrome
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Last Reviewed:08/30/2017
Last Updated:01/20/2022
Last Updated:01/20/2022