Oculodentodigital dysplasia is a rare disorder affecting the eye, teeth and digits.


Inheritance: autosomal dominant with variable inheritance or new mutation


Genetic locus: GJA1 (connexin 43) on chromosome 6q22-23.


Ocular findings:

(1) microophthalmos

(2) microcornea

(3) epicanthal folds

(4) short palpebral fissures

(5) iris abnormalities

(6) nystagmus


Dental findings:

(1) enamel hypoplasia


Digital findings:

(1) syndactyly of the fourth and fifth fingers

(2) camptodactyly of the fifth finger

(3) syndactyly of the third and fourth toes

(4) hypoplasia or aplasia in one or more fingers and/or toes


Neurologic findings:

(1) dysarthria

(2) neurogenic bladder

(3) ataxia

(4) spastic paraparesis

(5) seizures


Facial features:

(1) abnormal hair (fine, slow growing, sparse, etc)

(2) small nares with hypoplastic alae nasi

(3) small mandible



(1) leukodystrophy affecting the subcortical white matter

(2) early onset open angle glaucoma


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