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Oculodentodigital dysplasia
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Oculodentodigital dysplasia

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Contributors: Sid Schechet MD, D. Chimene Richa MD
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Synopsis

Oculodentodigital dysplasia (Craniofacial Features) : Hypertelorism, Hypoplastic phalanges, Microcephaly, Teeth abnormalities
Craniofacial Features
Oculodentodigital dysplasia (ODDD) is an inherited condition, typically autosomal-dominant, and is also referred to as oculodentodigital syndrome or oculodentoosseous dysplasia. It is characterized by ophthalmic, dental, and digit abnormalities. Facial features include narrow nasal bridge, small nares, cleft palate, cleft lip, prominent columnella, and thin hypoplastic alae nasi. Ophthalmic findings include glaucoma, cataract, epicanthal folds, microphthalmia, microcornea, pigmentary retinopathy, optic nerve dysplasia, ciliary body cysts, and iris coloboma. Dental anomalies include microdontia, dental caries, and enamel hypoplasia. Digit abnormalities include syndactyly type III (webbing of the fourth and fifth fingers), camptodactyly, and midphalangeal hypoplasia. Symptoms also include paraparesis, quadriparesis, spasticity, dysarthria, seizures, neurogenic bladder, and rarely, mental impairment. There can be other systemic abnormalities of skin, skeleton, hair, cardiac, and spermatogenesis.

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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Last Reviewed:08/30/2017
Last Updated:01/20/2022
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Oculodentodigital dysplasia
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