Oculofaciocardiodental syndrome
अंतिम अद्यतन 6 मार्च 2025
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental).
विवरण
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.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.
Related genes
Other names
MCOPS2
Microphthalmia, cataracts, radiculomegaly, and septal heart defects
Microphthalmia, syndromic 2
Oculo-facio-cardio-dental syndrome
OFCD syndrome
Related patient information and medicines
Patient information leaflet
डाउन सिंड्रोम
डाउन सिंड्रोम (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
Patient information leaflet
एहलर्स-डानलोस सिंड्रोम
यह Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness और शक्ति of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
क्री डू चैट सिंड्रोम
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
ओस्लर-वेबर-रेंडू सिंड्रोम
ओस्लर-वेबर-रेंडू सिंड्रोम is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
Patient information leaflet
टर्नर सिंड्रोम
टर्नर सिंड्रोम है a genetic condition that केवल affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Although there is no cure, there are treatments that can help most girls with Turner syndrome lead relatively normal lives. What.
Patient information leaflet
स्जोग्रेन सिंड्रोम
Sjögren's syndrome is an autoimmune disease that कारण यह glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
अधिक पठन और संदर्भ
- 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.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.