Oculofaciocardiodental syndrome
Última actualización 6 Mar 2025
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Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental).
Descripción
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental).
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 high 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, droopy eyelids (ptosis), and a nose with a high bridge and broad tip. Affected individuals may have a split (cleft) in their nose or in the roof of their mouth (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 the delayed loss of primary (baby) teeth, missing or abnormally small teeth, delayed teething (dentition), misaligned teeth, and defective tooth enamel.
Individuals with OFCD syndrome can have additional features, such as skeletal abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
MCOPS2
Microphthalmia, cataracts, radiculomegaly, and septal heart defects
Microphthalmia, syndromic 2
Oculo-facio-cardio-dental syndrome
OFCD syndrome
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Lecturas adicionales y referencias
- Oculofaciocardiodental syndrome; MedlinePlus, National Library of Medicine.
- Batkova M, Havlovicova M, Nocar A, Dudakova L, Macek M, Liskova P, Dostalova T. Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants. BMC Oral Health. 2024 Oct 22;24(1):1264. doi: 10.1186/s12903-024-05005-y.
- Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-G.
- 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;123A(3):261-6. doi: 10.1002/ajmg.a.20444.
- Horn D, Chyrek M, Kleier S, Luttgen 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. doi: 10.1038/sj.ejhg.5201391.
- 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. doi: 10.1016/j.ijom.2006.05.001. Epub 2006 Jul 10.
- Moleiro AF, Oliveira JS, Grangeia A, Faria P, Falcao-Reis F, Magalhaes A, Silva SE. Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series. Eur J Ophthalmol. 2024 Jan;34(1):NP6-NP11. doi: 10.1177/11206721231170406. Epub 2023 May 8.
- 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. doi: 10.1038/ng1321. Epub 2004 Mar 7.
- Nguyen TT, Truong ATH, Hoang VA, Van Huynh D, Van Nguyen T, Le CT, Dang DTP, Le MHN. Oculo-facio-cardio-dental (OFCD) syndrome: a case report. J Med Case Rep. 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x.
- 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. doi: 10.1002/(sici)1096-8628(19990219)82:53.0.co;2-s.
- 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. doi: 10.1597/04-089r.1.
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