[MIM 164 200, 257 850]

(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 : 

• Colready F, Colbert S, Dunphy J.
  Oculodento-osseous dysplasia: a review of anaesthetic problems.
  Pediatr Anesth 1994; 4:179-82
• Vignes S, Vidal F, Arrault M, Boccara O.
  Les lymphoedèmes primaires de l’enfant.
  Arch Pédiatr 2017; 24: 766-76

Updated: November 2020