Oculodentodigital Dysplasia Clinical CharacteristicsOcular Features: The eyes have been reported as small and sometimes appear deep-set. The epicanthal folds are prominent and the lid fissures are small. Microcornea and evidence of anterior chamber dysplasia including posterior synechiae, anterior displacement of Schwalbe’s line, and stromal hypoplasia in the peripupillary area may be present. Many eyes have some persistence of the pupillary membrane. Nystagmus and strabismus has been seen in some individuals. A few patients have evidence of a persistent hyperplastic primary vitreous, even bilaterally. Cataracts may be present as well and a few patients have been reported with open angle glaucoma. Most patients have normal or near normal visual acuity. Systemic Features: The clinical features of this syndrome are highly variable. Hair is sparse and the nails are usually dysplastic. The nose appears small and peaked with underdevelopment of the nasal alae, and the mandible may be broad. The cranial bones are often hyperostotic and the long bones as well as the ribs and clavicle are widened. The middle phalanges of the digits are usually hypoplastic or may be absent. Syndactyly of fingers and toes is often a feature and camptodactyly is common. The teeth are small and carious with evidence of enamel dysplasia. Hair often grows slowly and is sparse. A variety of neurological deficits have been reported but no consistent pattern has been recognized. However, white matter lesions and basal ganglia changes have been documented on MRI. GeneticsBoth autosomal recessive and autosomal dominant inheritance have been proposed but in both cases the mutations are in the same gene, GJA1, located at 6q21-q23.2. This disorder is allelic to Hallermann-Streiff syndrome (234100). Pedigree: Autosomal dominantAutosomal recessiveTreatmentTreatment Options: No treatment for the general condition is available. Cataracts and glaucoma require attention when present, of course. ReferencesArticle Title: Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43) Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond). 2009 Mar;23(3):549-55. PubMed ID: 18425059 Neurological manifestations of the oculodentodigital dysplasia syndrome Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 May;249(5):584-95. PubMed ID: 12021949 Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia Traboulsi EI, Faris BM, Der Kaloustian VM. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet. 1986 May;24(1):95-100. PubMed ID: 3085500 Oculodentodigital dysplasia Read more about Oculodentodigital Dysplasia
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43) Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond). 2009 Mar;23(3):549-55. PubMed ID: 18425059
Neurological manifestations of the oculodentodigital dysplasia syndrome Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 May;249(5):584-95. PubMed ID: 12021949
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia Traboulsi EI, Faris BM, Der Kaloustian VM. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet. 1986 May;24(1):95-100. PubMed ID: 3085500
