|Classification and external resources|
|Patient UK||Oculodentodigital dysplasia|
Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It has also been called oculo-dento-digital syndrome, oculodentodigital dysplasia (ODDD), and oculodentoosseous dysplasia (ODOD). It is considered a kind of ectodermal dysplasia.
Signs and symptoms
People with ODD syndrome often have a characteristic appearance. Visible features of the condition include:
- small teeth that are prone to caries because of underdeveloped tooth enamel;
- a long, thin nose;
- unusually small eyes; and
- type III syndactyly of the fourth and fifth fingers.
Iris atrophy and glaucoma are more common than average. The size of the eyes often interferes with learning to read; special eyeglasses may be required. Hair may be fine, thin, dry, or fragile; in some families, it is curly.
Neurologic abnormalities may be seen in adults. The neurologic changes may appear earlier in each subsequent generation and can include abnormal white matter, conductive deafness, and various kinds of paresis, including ataxia, spastic paraplegia, difficulty controlling the eyes, and bladder and bowel disturbances.
ODD is typically an autosomal dominant condition, but can be inherited as a recessive trait. It is generally believed to be caused by a mutation in the gene GJA1, which codes for the gap junction protein connexin 43. Slightly different mutations in this gene may explain the different way the condition manifests in different families. Most people inherit this condition from one of their parents, but new cases do arise through novel mutations. The mutation has high penetrance and variable expression, which means that nearly all people with the gene show signs of the condition, but these signs can range from very mild to very obvious.
The actual incidence of this disease is not known, but only 243 cases have been reported in the scientific literature, suggesting an incidence of on the order of one affected person in ten million people.
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- Boyadjiev SA, Jabs EW, LaBuda M et al. (1999). "Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23". Genomics 58 (1): 34–40. PMID 10331943. doi:10.1006/geno.1999.5814.
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- Paznekas WA, Boyadjiev SA, Shapiro RE et al. (2003). "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia". Am. J. Hum. Genet. 72 (2): 408–18. PMC 379233. PMID 12457340. doi:10.1086/346090.
- Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ (2006). "A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome". J. Med. Genet. 43 (7): e37. PMID 16816024. doi:10.1136/jmg.2005.037655.
- Jones KL, Smith DW, Harvey MA, Hall BD, Quan L (1975). "Older paternal age and fresh gene mutation: data on additional disorders". J. Pediatr. 86 (1): 84–8. PMID 1110452. doi:10.1016/S0022-3476(75)80709-8.
- Information from the Ectodermal Dysplasia Society
- About Ectodermal Dysplasia Types from the National Foundation for Ectodermal Dysplasias