Oculofaciocardiodental syndrome

Revision as of 18:04, 17 January 2009 by Berna (talk | contribs) (→‎Genetics)
Jump to navigation Jump to search
Oculofaciocardiodental syndrome

WikiDoc Resources for Oculofaciocardiodental syndrome

Articles

Most recent articles on Oculofaciocardiodental syndrome

Most cited articles on Oculofaciocardiodental syndrome

Review articles on Oculofaciocardiodental syndrome

Articles on Oculofaciocardiodental syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Oculofaciocardiodental syndrome

Images of Oculofaciocardiodental syndrome

Photos of Oculofaciocardiodental syndrome

Podcasts & MP3s on Oculofaciocardiodental syndrome

Videos on Oculofaciocardiodental syndrome

Evidence Based Medicine

Cochrane Collaboration on Oculofaciocardiodental syndrome

Bandolier on Oculofaciocardiodental syndrome

TRIP on Oculofaciocardiodental syndrome

Clinical Trials

Ongoing Trials on Oculofaciocardiodental syndrome at Clinical Trials.gov

Trial results on Oculofaciocardiodental syndrome

Clinical Trials on Oculofaciocardiodental syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Oculofaciocardiodental syndrome

NICE Guidance on Oculofaciocardiodental syndrome

NHS PRODIGY Guidance

FDA on Oculofaciocardiodental syndrome

CDC on Oculofaciocardiodental syndrome

Books

Books on Oculofaciocardiodental syndrome

News

Oculofaciocardiodental syndrome in the news

Be alerted to news on Oculofaciocardiodental syndrome

News trends on Oculofaciocardiodental syndrome

Commentary

Blogs on Oculofaciocardiodental syndrome

Definitions

Definitions of Oculofaciocardiodental syndrome

Patient Resources / Community

Patient resources on Oculofaciocardiodental syndrome

Discussion groups on Oculofaciocardiodental syndrome

Patient Handouts on Oculofaciocardiodental syndrome

Directions to Hospitals Treating Oculofaciocardiodental syndrome

Risk calculators and risk factors for Oculofaciocardiodental syndrome

Healthcare Provider Resources

Symptoms of Oculofaciocardiodental syndrome

Causes & Risk Factors for Oculofaciocardiodental syndrome

Diagnostic studies for Oculofaciocardiodental syndrome

Treatment of Oculofaciocardiodental syndrome

Continuing Medical Education (CME)

CME Programs on Oculofaciocardiodental syndrome

International

Oculofaciocardiodental syndrome en Espanol

Oculofaciocardiodental syndrome en Francais

Business

Oculofaciocardiodental syndrome in the Marketplace

Patents on Oculofaciocardiodental syndrome

Experimental / Informatics

List of terms related to Oculofaciocardiodental syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor in Chief: Berna Zorkun DMD [2]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [3] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Synonyms and related keywords: MCOPS2 or Microphthalmia, cataracts, radiculomegaly, and septal heart defects or Microphthalmia, syndromic 2, Oculo-facio-cardio-dental syndrome, OFCD syndrome

Overview

Oculofaciocardiodental syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. [1] [2] [3] [4] [5] [6] [7]

The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.

People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.

Heart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).

Teeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.

Incidence

Oculofaciocardiodental syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people.

Genetics

Mutations in the BCOR gene cause Oculofaciocardiodental syndrome. The BCOR gene provides instructions for making a protein called the BCL6 co-repressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. Several mutations in the BCOR gene have been found in people with oculofaciocardiodental syndrome. These mutations prevent the production of any functional protein from the altered gene, which disrupts the normal development of the eyes and several other organs and tissues before birth.

Diagnosis

Diagnosis of oculofaciocardiodental syndrome is hard for medical specialists and the syndrome is often unrecognized.

Cardiac Abnormalities

Dental Abnormalities

The specific dental findings (visible on a panoramic radiograph of the jaws) can be easily diagnosed by an orthodontist or a dentist.

  • Radiculomegaly: The most consistent and pathognomic dental finding of oculofaciocardiodental syndrome is radiculomegaly (extremely long roots), particularly of the canines and occasionally of other teeth including premolars and incisors.
  • Slow and delayed dental eruption: The dental eruption in both the deciduous and the permanent dentition is consistently slow and delayed.
  • Oligodontia
  • Fused teeth
  • Supernumerary teeth
  • Malformed permanent teeth
  • Enamel defects
  • Root dilacerations
  • Malposition
  • Malocclusion

Facial Abnormalities

Ocular Abnormalities

Others

Inheritance

This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of BCL6 co-repressor protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of OFCD syndrome.

In males (who have only one X chromosome), mutations result in a total loss of the BCL6 co-repressor protein. A lack of this protein appears to be lethal very early in development, so no males are born with OFCD syndrome.

Management

Management of oculofaciocardiodental syndrome requires appropriate cardiac, ophthalmic and dental care.

Source

References

  1. Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet. 1996 May 3;63(1):290-2. PMID 8723122
  2. Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance. Am J Med Genet A. 2003 Dec 15;123(3):261-6. PMID 14608648
  3. Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May;13(5):563-9. PMID 15770227
  4. McGovern E, Al-Mudaffer M, McMahon C, Brosnahan D, Fleming P, Reardon W. Oculo-facio-cardio-dental syndrome in a mother and daughter. Int J Oral Maxillofac Surg. 2006 Nov;35(11):1060-2. Epub 2006 Jul 10. PMID 16829040
  5. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7. PMID 15004558
  6. Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Am J Med Genet. 1999 Feb 19;82(5):429-35. Review. PMID 10069716
  7. Tsukawaki H, Tsuji M, Kawamoto T, Ohyama K. Three cases of oculo-facio-cardio-dental (OFCD) syndrome. Cleft Palate Craniofac J. 2005 Sep;42(5): 467-76. PMID 16149826

External Links


Template:Genetics

Template:Dentistry Template:SIB


Template:WikiDoc Sources