Oculodentodigital syndrome

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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.

Presentation

People with ODD syndrome often have a characteristic appearance. Visible features of the condition include:cite journal |author=Vasconcellos JP, Melo MB, Schimiti RB, Bressanim NC, Costa FF, Costa VP |title=A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia |journal=Arch. Ophthalmol. |volume=123 |issue=10 |pages=1422–6 |year=2005 |pmid=16219735 |doi=10.1001/archopht.123.10.1422 |url=http://archopht.ama-assn.org/cgi/pmidlookup?view=long&pmid=16219735]

* 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. [Kelly, S. C., "et al." A novel GJA1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Europ. J. Derm. 16: 241-245, 2006.]

Neurologic abnormalities may be seen in adults. The neurologic changes may appear earlier in each subsequent generationcite journal |author=Boyadjiev SA, Jabs EW, LaBuda M, "et al" |title=Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23 |journal=Genomics |volume=58 |issue=1 |pages=34–40 |year=1999 |pmid=10331943 |doi=10.1006/geno.1999.5814 |url=http://linkinghub.elsevier.com/retrieve/pii/S0888-7543(99)95814-7] and can include abnormal white matter, conductive deafness, and various kinds of paresis,cite journal |author=Gutmann DH, Zackai EH, McDonald-McGinn DM, Fischbeck KH, Kamholz J |title=Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter |journal=Am. J. Med. Genet. |volume=41 |issue=1 |pages=18–20 |year=1991 |pmid=1659191 |doi=10.1002/ajmg.1320410106] including ataxia, spastic paraplegia, difficulty controlling the eyes, and bladder and bowel disturbances.cite journal |author=Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F |title=Neurological manifestations of the oculodentodigital dysplasia syndrome |journal=J. Neurol. |volume=249 |issue=5 |pages=584–95 |year=2002 |pmid=12021949 |doi=10.1007/s004150200068] cite journal |author=Norton KK, Carey JC, Gutmann DH |title=Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family |journal=Am. J. Med. Genet. |volume=57 |issue=3 |pages=458–61 |year=1995 |pmid=7677152 |doi=10.1002/ajmg.1320570320] cite journal |author=Paznekas WA, Boyadjiev SA, Shapiro RE, "et al" |title=Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia |journal=Am. J. Hum. Genet. |volume=72 |issue=2 |pages=408–18 |year=2003 |pmid=12457340 |doi=]

Genetics

ODD is commonly an autosomal dominant condition, but can be inherited as a recessive trait.cite journal |author=Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ |title=A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome |journal=J. Med. Genet. |volume=43 |issue=7 |pages=e37 |year=2006 |pmid=16816024 |doi=10.1136/jmg.2005.037655] 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 their mothers or fathers, but new cases arise through mutation, particularly in older fathers.cite journal |author=Jones KL, Smith DW, Harvey MA, Hall BD, Quan L |title=Older paternal age and fresh gene mutation: data on additional disorders |journal=J. Pediatr. |volume=86 |issue=1 |pages=84–8 |year=1975 |pmid=1110452 |doi=] 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.

Epidemiology

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.

References

External links

* [http://www.odddsupportgroup.com/18602.html Information] from the ODDD Support Group
* [http://www.ectodermaldysplasia.org/whatised.asp Information] from the Ectodermal Dysplasia Society
* [http://nfed.org/about_ed_types.asp About Ectodermal Dysplasia Types] from the National Foundation for Ectodermal Dysplasias