Última actualización:
May 26, 2008
Años publicados: 1992, 1998, 2005
Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thought to have been inherited as an autosomal recessive trait. Major symptoms of cculo-dento-digital dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly.
Oculo-dento-digital dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye (cornea), a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly.
Other symptoms that may be present in some patients with oculo-dento-digital dysplasia are: a thick lower jaw; an abnormally small head; permanent bending of the fourth and fifth fingers; webbing and/or permanent bending of the second third and fourth toes; abnormally small teeth; eyes that do not look in the same direction (strabismus); a build-up of fluid pressure in the eyeball (glaucoma); a short, narrow opening between the upper and lower eyelids; a vertical fold over the inner corner of the eye; atrophy of the eye; cleft lip and/or palate; and bone abnormalities in the toes and fifth finger.
It is felt that there may be another form of oculo-dento-digital dysplasia in which the eye and skeletal changes are more severe. There have only been a few cases of this severe form documented and it is thought they may have been inherited as an autosomal recessive trait. The eyes are smaller than normal, slanted, set wide apart and blindness may occur. Skeletal abnormalities include overgrowth of the lower jaw, excessive thickening of bone tissue in the skull, an abnormally wide collarbone, and calcium deposits in the lobes of the ear.
Other symptoms found in patients with autosomal recessive oculo-dento-digital dysplasia are a long narrow nose with underdeveloped outer flaring walls of the nostrils, irregular teeth with abnormal enamel, and webbing of the fourth and fifth fingers.
Oculo-dento-digital dysplasia may be inherited as an autosomal dominant trait. In these cases, it occurs as a result of a change (mutation) in a gene on the long arm of chromosome 6 (6q21-q23.2). An autosomal recessive form is also thought to exist, but the associated gene has not been identified.
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated «p» and a long arm designated «q». Chromosomes are further sub-divided into many bands that are numbered. For example, «chromosome 16q21-q23.2» refers to a region between bands 21 and 23.2 on the long arm of chromosome 6. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Oculo-dento-digital dysplasia is a very rare disorder that appears to affect males and females in equal numbers. There have been approximately eighty-five cases reported in the medical literature.
The autosomal recessive form of this disorder has only been documented in about 5 cases.
Patients with oculo-dento-digital dysplasia may benefit from surgery to repair the webbed fingers and bone malformations.
Full crown restorations may be used to correct the defect in the enamel of the teeth.
The crossed eyes (strabismus) may be corrected by wearing a patch over the strong eye in order to strengthen the weak eye. This procedure must be done at a young age in order to be affective. Surgery may also be performed in some cases.
In older people whose strabismus is beyond the age of correction, the orphan drug Oculinum can be injected around the eye muscles to correct the crossed eyes. Injections must be repeated every few months.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
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TEXTBOOKS
Gorlin RJ, Cohen MMJr, Levin LS. Eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:234-35.
Jones KL. Ed. Smith’s Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:268-69.
JOURNAL ARTICLES
Kjaer KW, Hansen L, Eiberg H, et al. Novel Connexin 43 (GJA1) mutation causes oculo-dental-digital dysplasia with curly hair. Am J Med Genet A. 2004;127:152-57.
Ioan DM, Dagomiz D, Fryns JP. Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome ina 9.5 year-old girl and type III syndactyly in the father. Genet Couns. 2002;13:187-89.
Ioan DM, Dumitriu L, Belengeariu V, et al. The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family. Genet Couns. 1997;8:87-90.
Shapiro RE, Griffin JW, Stine OC. Evidence for genetic anticipation in the oculodentodigital syndrome. Am J Med Genet. 1997;71:36-41.
Battisti C, Palmeri S, Frederico A. Oculo-dento-digital syndrome (Gorlin’s syndrome): clinical and genetical report of a new family. Acta Neurol (Napoli). 1992;14:103-10.
FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Oculodentodigital Dysplasia; ODDD. Entry Number; 164200: Last Edit Date; 2/3/2005.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Oculodentoosseous Dysplasia, Recessive. Entry Number; 257850: Last Edit Date; 3/19/2004.
Oculodentoosseous dysplasia dominant. Orphanet. June 2002. 1p.
https://www.orpha.net/Pat/GBO.html
Robert-Gnansia E. Oculodentoosseous dysplasia recessive. October 2004. 1p.
https://www.orpha.net/Pat/GBO.html
Oculo-dento-digital (ODD) syndrome. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp.
www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=494
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The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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