Oculo-dento-digital syndrome or dysplasia
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(oculo-dento-osseous dysplasia, Meyer-Schwickerath disease, ODOD)
Very rare. Rare form of syndromic ectodermal dysplasia. Autosomal dominant or recessive transmission of mutations of the GJA1 gene (6q22- q23) that codes for connexine 23, a junction protein.
Clinical picture
- microcephaly
- narrow nose with hypoplastic wings, small anteverted nostrils and a prominent columella
- mandibular overgrowth, cleft palate
- eye anomalies: decrease in visual acuity, microphthalmos, microcornea, cataract, glaucoma, anomalies of the iris and optic atrophy. Sometimes: nystagmus, small palpebral fissures, epicanthus and convergent strabismus
- inconstant congenital lymphedema
- type 3 syndactyly (at the level of 4th and 5th fingers and/or the 2nd, 3rd and 4th toes), camptodactyly, and clinodactyly due to dysplasia or aplasia of the middle phalanges. Sometimes: hyperostosis and enlarged tubular bones.
- abnormal primary and permanent dentition with microdontia, partial anodontia, enamel hypoplasia, multiple caries and early loss of teeth.
- frequent neurological symptoms: dysarthria, neurological bladder, spastic paraparesis, ataxia and convulsions
- sometimes: dysplastic ears and conductive deafness; brittle nails and hair abnormalities (hypotrichosis and slow growth) may be present.
- unfrequent cardiac anomalies: arrhythmias or congenital malformations (VSD)
Anesthetic implications:
risk of difficult intubation; brittle teeth; glaucoma
References :
Updated: November 2020