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
Complications:
(1) leukodystrophy affecting the subcortical white matter
(2) early onset open angle glaucoma
