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Oculo-Dento-Digital Dysplasia

Synonyms of Oculo-Dento-Digital Dysplasia

  • Dento-Oculo-Osseous Dysplasia
  • Oculodentodigital Dysplasia
  • Oculo Dento Digital Dysplasia
  • Oculo-Dento-Osseous Dysplasia
  • ODDD
  • ODD Syndrome
  • ODOD
  • Osseous-Oculo-Dento Dysplasia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Symptoms

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.

Causes

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.

Affected Populations

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.

Related Disorders

Symptoms of the following disorders can be similar to those of oculo-dento-digital dysplasia. Comparisons may be useful for a differential diagnosis:

Amelogenesis imperfecta is a rare genetic disorder characterized by a developmental defect of the tooth enamel. Secondary effects of this disorder may be early tooth loss, heightened susceptibility to disease of the tissues surrounding the teeth and increased sensitivity of the teeth to hot and cold. There are multiple types of this disorder and it is inherited through various modes of transmission. (For more information on this disorder, choose "Amelogenesis Imperfecta" as your search term in the Rare Disease Database.)

The ectodermal dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. Patients have abnormal enamel on their teeth or missing teeth, and absent or unusual hair on their head. (For more information on this disorder choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database.)

Oro-cranio-digital syndrome is a very rare disorder that is thought to possibly be inherited as an autosomal recessive trait. Symptoms of this disorder may be an abnormally small head, abnormalities of the thumbs and toes, growth retardation and cleft lip and/or palate. This disorder affects females slightly more often than males.

Saethre-Chotzen syndrome is a rare disorder thought to be inherited as an autosomal dominant trait. This disorder involves various craniofacial and skeletal malformations with abnormalities of the skin on the toes and finger. Short stature, and in some cases, mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Saethre-Chotzen Syndrome" as your search term in the Rare Disease Database.)

Standard Therapies

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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Oculo-Dento-Digital Dysplasia

References

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.
http://www.orpha.net/Pat/GBO.html

Robert-Gnansia E. Oculodentoosseous dysplasia recessive. October 2004. 1p.
http://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

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/26 00:00:00 GMT+0

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