Oculofaciocardiodental syndrome: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
 
(71 intermediate revisions by 4 users not shown)
Line 1: Line 1:
__NOTOC__
{{Infobox_Disease |
{{Infobox_Disease |
   Name          = {{PAGENAME}} |
   Name          = {{PAGENAME}} |
Line 14: Line 15:
}}
}}
{{SI}}
{{SI}}
{{CMG}}
{{CMG}}; {{AE}} {{Arash.M}}  
 
'''Associate Editor in Chief:''' Berna Zorkun DMD [mailto:bernazorkun@gmail.com]
 
{{EH}}


'''Synonyms and related keywords:''' MCOPS2 or Microphthalmia, cataracts, radiculomegaly, and septal heart defects or Microphthalmia, syndromic 2, Oculo-facio-cardio-dental syndrome, OFCD syndrome
'''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==  
==Overview==  
Oculofaciocardiodental syndrome (OFCD) is a rare [[Congenital disorder|congenital condition]] affecting [[eyes]], [[heart]], [[face]] and [[teeth]]. This syndrome is a [[X-linked]] syndrome and it has been seen in [[heterozygous]] female only. Due to its lethal affects on male, there has been no report of affected male. Common [[signs]] and [[symptoms]] include [[cataract]], small deep-set eyes, long narrow face, [[heart defects]] and teeth with large roots.


'''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. <ref>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</ref> <ref>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</ref> <ref>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</ref> <ref>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</ref> <ref>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</ref> <ref>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</ref> <ref> 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</ref>
==Historical Perspective==
 
'''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 septal defect|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 OFCD 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 OFCD 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.


* OFCD initially was described by Hayward, an oral [[surgeon]], in 1980 as [[ocular]], [[facial]], [[cardiac]] and [[dental]] abnormalities.<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>
* In 1999, Schulze BR discovered that this [[syndrome]] has lethal effects on affected males and it has been seen in only [[heterozygous]] females.
* Further investigations by Hayward and Schulze indicated that OFCD has ocular problems like [[congenital]] [[cataract]], [[microphthalmia]] as well as [[cardiac]] symptoms like [[atrial septal defect]], [[ventricular septal defect]] and [[mitral valve prolapse]].
* Its [[dental]] [[abnormalities]] including delayed [[tooth eruption]] and prolonged retention of [[primary teeth]] were described in 1990 by Marashi and Gorlin.
==Classification==
* There is no established system for classification of OFCD.
==Pathophysiology==
* The [[genetic]] analysis in oculofaciocardiodental syndrome [[patients]] shows [[mutations]] in [[BCOR]] [[gene]] on [[chromosome]] [[Xp11.4]] which has functions like maintaining tissue homeostasis and [[gene]] silencing by [[epigenetic]] mechanisms.<ref name="HiltonManson2007">{{cite journal|last1=Hilton|first1=Emma N.|last2=Manson|first2=Forbes D.C.|last3=Urquhart|first3=Jill E.|last4=Johnston|first4=Jennifer J.|last5=Slavotinek|first5=Anne M.|last6=Hedera|first6=Peter|last7=Stattin|first7=Eva-Lena|last8=Nordgren|first8=Ann|last9=Biesecker|first9=Leslie G.|last10=Black|first10=Graeme C.M.|title=Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination|journal=Human Molecular Genetics|volume=16|issue=14|year=2007|pages=1773–1782|issn=1460-2083|doi=10.1093/hmg/ddm125}}</ref>
* [[BCOR]] gene provides instructions for making BCL6 corepressor [[protein]]. The BCL6 corepressor plays an essential role in early embryonic development, including the formation of the eyes and several other tissues and organs like the cardiovascular system and face tissues.
* It can also involve in specifying the left and right sides of the body in the developing embryo.
==Causes==
* OFCD syndrome may be caused by [[mutation]] in [[BCOR]] gene on [[chromosome]] [[Xp11.4]]
==Differentiating OFCD from other diseases==
* It is important to differentiate between OFCD syndrome and [[marfan syndrome]]. Patients with [[marfan syndrome]] present OFCD symptoms plus [[musculoskeletal]], [[CNS]], [[pulmonary]] and [[integumentary]] manifestation.<ref name="pmid30875852">{{cite journal| author=Martinho J, Ferreira H, Paulo S, Paula A, Marto CM, Carrilho E | display-authors=etal| title=Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition. | journal=Int J Environ Res Public Health | year= 2019 | volume= 16 | issue= 6 | pages=  | pmid=30875852 | doi=10.3390/ijerph16060928 | pmc=6466113 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30875852  }} </ref>
* It can be misdiagnosed as [[congenital rubella]] due to association of [[congenital]] [[cataract]] with [[cardiac]] anomalies.
==Epidemiology and Demographics==
* Oculofaciocardiodental syndrome is very rare; the [[incidence]] is estimated to be less than per million people.<ref name="MY2018">{{cite journal|last1=M|first1=Nishiguchi|last2=Y|first2=Sasaki|last3=K|first3=Satoh|last4=Y|first4=Kamasaki|last5=Y|first5=Kondo|last6=T|first6=Fujiwara|title=Long-term observation of a case of oculo-facio-cardio-dental syndrome that showed remarkable radiculomegaly of primary teeth|journal=Journal of Translational Science|volume=5|issue=2|year=2018|issn=2059268X|doi=10.15761/JTS.1000257}}</ref>
* It is primarily only found in females while it is highly rare in males.
==Risk Factors==
There are no established [[risk factors]] for OFCD syndrome.
==Screening==
There is insufficient evidence to recommend routine [[screening]] for OFCD syndrome.
==Natural History, Complications, and Prognosis==
* Girls with this [[condition]] are born with eyeballs that are abnormally small [[microphthalmia]]. Other eye problems can include [[cataract]] and a higher risk of [[glaucoma]].<ref name="SurapornsawasdOgawa2014">{{cite journal|last1=Surapornsawasd|first1=Thunyaporn|last2=Ogawa|first2=Takuya|last3=Tsuji|first3=Michiko|last4=Moriyama|first4=Keiji|title=Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells|journal=Journal of Human Genetics|volume=59|issue=6|year=2014|pages=314–320|issn=1434-5161|doi=10.1038/jhg.2014.24}}</ref>
* If left untreated, patients with OFCD syndrome may progress to develop [[cardiac failure]] and [[blindness]].<ref name="GorlinMarashi1996">{{cite journal|last1=Gorlin|first1=Robert J.|last2=Marashi|first2=Amir H.|last3=Obwegeser|first3=Hugo L.|title=Oculo-facio-cardio-dental (OFCD) syndrome|journal=American Journal of Medical Genetics|volume=63|issue=1|year=1996|pages=290–292|issn=01487299|doi=10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G}}</ref>
*Cardiac complications may include:<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>
** [[Ventricular septal defect]]
** [[Atrial septal defect]]
** [[Mild cardiomegaly]]
** [[Atrial hypertrophy]]
** [[Ventricular hypertrophy]]
** [[Benign peripheral pulmonic stenosis]]
** [[Mitral valve prolapse]]
* Other [[complications]] include:
** [[cataract|Bilateral congenital cataracts]]
** [[vision impairment|Regressive vision impairment]]
** [[glaucoma|Secondary glaucoma]]
*[[Prognosis]] is generally poor in males.
==Diagnosis==
==Diagnosis==
 
===Diagnostic Study of Choice===
Diagnosis of oculofaciocardiodental syndrome is hard for medical specialists and the syndrome is often unrecognized.
[[Diagnosis]] of oculofaciocardiodental syndrome is based on [[genetic analysis]] and [[clinical]] characteristics.
 
===History and Symptoms===
===Cardiac Abnormalities===
The majority of patients with [disease name] are asymptomatic.
 
OR
* [[Ventricular septal defect]]  
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
* [[Atrial septal defect]]  
===Physical Examination===
* [[Mild cardiomegaly]]  
* Physical examination of patients with Oculofaciocardiodental syndrome is usually remarkable for characteristic facial features, missing or abnormally small teeth, [[misaligned]] teeth, and defective tooth [[enamel]], and a heart murmur.
* [[Atrial hypertrophy]]
*[[Facial]] manifestations include a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a [[cleft]].
* [[Ventricular hypertrophy]]  
===Facial Abnormalities===
* [[Benign peripheral pulmonic stenosis]]
* [[Face|Long narrow face]]<ref name="pmid21206708">{{cite journal| author=Rudrappa S, Kumar R, Kumar GS| title=Oculo-facio-cardio-dental syndrome in a girl and her mother. | journal=Indian J Hum Genet | year= 2010 | volume= 16 | issue= 3 | pages= 169-71 | pmid=21206708 | doi=10.4103/0971-6866.73416 | pmc=3009431 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21206708  }} </ref>
* [[Mitral valve prolapse]]
* [[nasal bridge|High nasal bridge]]  
 
* [[Nose|Broad nasal tip with separated nasal cartilages]]
* [[eyebrow|Laterally curved and thick eyebrows]]
* [[philtrum|Long philtrum]]
* [[Cleft palate|Clefts of the hard / soft palate]]
[[Image:ofcd 3.jpg|200px|thumb|center|facial abnormalities<ref name="pmid30544426">{{cite journal| author=Kato J, Kushima K, Kushima F| title=New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report. | journal=Medicine (Baltimore) | year= 2018 | volume= 97 | issue= 49 | pages= e13444 | pmid=30544426 | doi=10.1097/MD.0000000000013444 | pmc=6310535 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30544426  }} </ref>]]
===Ocular Abnormalities===
* [[Microphthalmia]]
* Abnormal red reflex due to [[cataract]]
* [[Ptosis]]  
* [[Exotropia]]
* High intraocular pressure due to [[glaucoma]]
*Others physical examination findings include:<ref name="MY2018">{{cite journal|last1=M|first1=Nishiguchi|last2=Y|first2=Sasaki|last3=K|first3=Satoh|last4=Y|first4=Kamasaki|last5=Y|first5=Kondo|last6=T|first6=Fujiwara|title=Long-term observation of a case of oculo-facio-cardio-dental syndrome that showed remarkable radiculomegaly of primary teeth|journal=Journal of Translational Science|volume=5|issue=2|year=2018|issn=2059268X|doi=10.15761/JTS.1000257}}</ref>
* [[hammer-type]] flexion of toes 2 and 3
* [[clinodactyly]] of toes 4 and 5
===Laboratory findings===
* There are no diagnostic laboratory findings associated with OFCD
===Electrocardiogram===
* In patients with OFCD, ECG is usually normal.
===X-ray===
===Dental 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.<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>
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 [[premolar]]s and [[incisor]]s.
* 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 [[premolar]]s and [[incisor]]s.
* Slow and delayed dental eruption: The dental eruption in both the deciduous and the permanent dentition is consistently slow and delayed.  
* Slow and delayed dental eruption: The dental eruption in both the deciduous and the permanent dentition is consistently slow and delayed.  
Line 70: Line 106:
* Malposition
* Malposition
* [[Malocclusion]]
* [[Malocclusion]]
 
[[Image:ofcd.jpg|200px|thumb|center|dental abnormalities<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>]]
===Facial Abnormalities===
[[Image:ofcd 2.jpg|200px|thumb|center|dental abnormalities<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>]]
 
* [[Intraoral]] radiographs in most pf the patients show abnormal dental root maturation with pulp stone-like calcification ([[PSLC]]) in teeth pulp and calcified dental papilla ([[CDP]]) beneath dental roots.<ref name="pmid30544426">{{cite journal| author=Kato J, Kushima K, Kushima F| title=New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report. | journal=Medicine (Baltimore) | year= 2018 | volume= 97 | issue= 49 | pages= e13444 | pmid=30544426 | doi=10.1097/MD.0000000000013444 | pmc=6310535 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30544426  }} </ref>
* [[Face|Long narrow face]]  
* Cephalometric radiograph in some patients reveals elongated lower facial height and steep mandibular plane angle.<ref name="pmid21740180">{{cite journal| author=Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ| title=Oculofaciocardiodental syndrome: a rare case and review of the literature. | journal=Cleft Palate Craniofac J | year= 2012 | volume= 49 | issue= 5 | pages= e55-60 | pmid=21740180 | doi=10.1597/10-256 | pmc=3354011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21740180  }} </ref>. Also abdominal X-ray may show [[cardiomegaly]] or [[pulmonary oedema]] and[[plueral effusion]] in severe cases.
* [[nasal bridge|High nasal bridge]]  
===Echocardiography===
* [[Nose|Broad nasal tip with separated nasal cartilages]]
* Echocardiography may be helpful in detection and following up of cardiovascular manifestation of OFCD.
* [[eyebrow|Laterally curved and thick eyebrows]]
* Echocardiographic findings of OFCD include:
* [[philtrum|Long philtrum]]
===CT scan===
* [[Cleft palate|Clefts of the hard / soft palate]]
* Dental Cone Beam CT ([[CBCT]]) can be performed in some patients and confirms [[round-calcified-tissue]] and [[PSLC]] which are associated with [[radiculomegaly]].[[File:CBCT of OFCD.jpg|200px|thumb|center|CT scan<ref name="pmid30544426">{{cite journal| author=Kato J, Kushima K, Kushima F| title=New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report. | journal=Medicine (Baltimore) | year= 2018 | volume= 97 | issue= 49 | pages= e13444 | pmid=30544426 | doi=10.1097/MD.0000000000013444 | pmc=6310535 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30544426  }} </ref>]]
 
===MRI===
===Ocular Abnormalities===
* There are a few MRI findings associated with OFCD, though in some cases [[brain MRI]] has shown [[extracranial]] [[hemangioma]] on the frontal scalp.<ref name="MorganColazo2019">{{cite journal|last1=Morgan|first1=T. M.|last2=Colazo|first2=J. M.|last3=Duncan|first3=L.|last4=Hamid|first4=R.|last5=Joos|first5=K. M.|title=Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome|journal=Case Reports in Genetics|volume=2019|year=2019|pages=1–8|issn=2090-6544|doi=10.1155/2019/9382640}}</ref>
 
===Other Imaging Findings===
* [[cataract|Bilateral congenital cataracts]]  
* There are no other imaging findings associated with OFCD syndrome
* [[Microphthalmia]]  
===Other Diagnostic Studies===
* [[vision impairment|Regressive vision impairment]]  
There are no other diagnostic studies associated with OFCD syndrome
* [[glaucoma|Secondary glaucoma]]  
==Treatment==
* [[Ptosis]]  
* The OFCD management includes [[surgical]] interventions.
* [[Exotropia]]: Exotropia is very common.
===Surgery===
 
*[[Surgery]] is the mainstay of treatment for OFCD which includes [[orthodontic]] treatment for dental manifestation and [[orthognathic]] surgery to solve skeletal anomalies, and [[cataract]] surgery.
===Others===
* Orthodontic and orthognathic surgery include:<ref name="pmid30875852">{{cite journal| author=Martinho J, Ferreira H, Paulo S, Paula A, Marto CM, Carrilho E | display-authors=etal| title=Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition. | journal=Int J Environ Res Public Health | year= 2019 | volume= 16 | issue= 6 | pages=  | pmid=30875852 | doi=10.3390/ijerph16060928 | pmc=6466113 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30875852  }} </ref>
 
** Lower fixed appliance
* [[Syndactyly]] of the second and third toes
** Upper fixed appliance
* Hammer-type [[flexion]] of the second and fourth toes
** Maxillary impaction
* Radio-ulnar [[synostosis]]
** Bilateral sagittal split osteotomy
* Vertebral and rib anomalies
** [[Genioplasty]]
* [[Intestinal malrotation]]  
===Primary Prevenytion===
* [[Hearing impairment]]  
* There are no established measures for the [[primary prevention]] of OFCD syndrome.
* [[Mental retardation|Mental and psychomotor retardation]]
===Secondary Prevention===
 
* There are no established measures for the [[secondary prevention]] of OFCD syndrome.
==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==
 
* [http://ghr.nlm.nih.gov/ Genetics Home Reference]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
==External Links==
* [http://www.nature.com/ejhg/journal/v13/n5/fig_tab/5201391f1.html Images related to oculofaciocardiodental syndrome]
{{Genetics}}
{{Congenital malformations and deformations of circulatory system}}
{{Orthodontics}}
{{Dentistry}}
{{SIB}}
[[Category:Cardiology]]
[[Category:Dentistry]]
[[Category:Genetics]]
[[Category:Ophthalmology]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 16:42, 19 August 2020

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(s)-in-Chief: Seyed Arash Javadmoosavi, MD[2]

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 (OFCD) is a rare congenital condition affecting eyes, heart, face and teeth. This syndrome is a X-linked syndrome and it has been seen in heterozygous female only. Due to its lethal affects on male, there has been no report of affected male. Common signs and symptoms include cataract, small deep-set eyes, long narrow face, heart defects and teeth with large roots.

Historical Perspective

Classification

  • There is no established system for classification of OFCD.

Pathophysiology

  • The genetic analysis in oculofaciocardiodental syndrome patients shows mutations in BCOR gene on chromosome Xp11.4 which has functions like maintaining tissue homeostasis and gene silencing by epigenetic mechanisms.[2]
  • BCOR gene provides instructions for making BCL6 corepressor protein. The BCL6 corepressor plays an essential role in early embryonic development, including the formation of the eyes and several other tissues and organs like the cardiovascular system and face tissues.
  • It can also involve in specifying the left and right sides of the body in the developing embryo.

Causes

Differentiating OFCD from other diseases

Epidemiology and Demographics

  • Oculofaciocardiodental syndrome is very rare; the incidence is estimated to be less than per million people.[4]
  • It is primarily only found in females while it is highly rare in males.

Risk Factors

There are no established risk factors for OFCD syndrome.

Screening

There is insufficient evidence to recommend routine screening for OFCD syndrome.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

Diagnosis of oculofaciocardiodental syndrome is based on genetic analysis and clinical characteristics.

History and Symptoms

The majority of patients with [disease name] are asymptomatic. OR The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

  • Physical examination of patients with Oculofaciocardiodental syndrome is usually remarkable for characteristic facial features, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel, and a heart murmur.
  • Facial manifestations include a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft.

Facial Abnormalities

facial abnormalities[8]

Ocular Abnormalities

Laboratory findings

  • There are no diagnostic laboratory findings associated with OFCD

Electrocardiogram

  • In patients with OFCD, ECG is usually normal.

X-ray

Dental Abnormalities

The specific dental findings (visible on a panoramic radiograph of the jaws) can be easily diagnosed by an orthodontist or a dentist.[1]

  • 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
dental abnormalities[1]
dental abnormalities[1]
  • Intraoral radiographs in most pf the patients show abnormal dental root maturation with pulp stone-like calcification (PSLC) in teeth pulp and calcified dental papilla (CDP) beneath dental roots.[8]
  • Cephalometric radiograph in some patients reveals elongated lower facial height and steep mandibular plane angle.[1]. Also abdominal X-ray may show cardiomegaly or pulmonary oedema andplueral effusion in severe cases.

Echocardiography

  • Echocardiography may be helpful in detection and following up of cardiovascular manifestation of OFCD.
  • Echocardiographic findings of OFCD include:

CT scan

MRI

Other Imaging Findings

  • There are no other imaging findings associated with OFCD syndrome

Other Diagnostic Studies

There are no other diagnostic studies associated with OFCD syndrome

Treatment

  • The OFCD management includes surgical interventions.

Surgery

  • Surgery is the mainstay of treatment for OFCD which includes orthodontic treatment for dental manifestation and orthognathic surgery to solve skeletal anomalies, and cataract surgery.
  • Orthodontic and orthognathic surgery include:[3]
    • Lower fixed appliance
    • Upper fixed appliance
    • Maxillary impaction
    • Bilateral sagittal split osteotomy
    • Genioplasty

Primary Prevenytion

Secondary Prevention

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Davoody A, Chen IP, Nanda R, Uribe F, Reichenberger EJ (2012). "Oculofaciocardiodental syndrome: a rare case and review of the literature". Cleft Palate Craniofac J. 49 (5): e55–60. doi:10.1597/10-256. PMC 3354011. PMID 21740180.
  2. ↑ Hilton, Emma N.; Manson, Forbes D.C.; Urquhart, Jill E.; Johnston, Jennifer J.; Slavotinek, Anne M.; Hedera, Peter; Stattin, Eva-Lena; Nordgren, Ann; Biesecker, Leslie G.; Black, Graeme C.M. (2007). "Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination". Human Molecular Genetics. 16 (14): 1773–1782. doi:10.1093/hmg/ddm125. ISSN 1460-2083.
  3. ↑ 3.0 3.1 Martinho J, Ferreira H, Paulo S, Paula A, Marto CM, Carrilho E; et al. (2019). "Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition". Int J Environ Res Public Health. 16 (6). doi:10.3390/ijerph16060928. PMC 6466113. PMID 30875852.
  4. ↑ 4.0 4.1 M, Nishiguchi; Y, Sasaki; K, Satoh; Y, Kamasaki; Y, Kondo; T, Fujiwara (2018). "Long-term observation of a case of oculo-facio-cardio-dental syndrome that showed remarkable radiculomegaly of primary teeth". Journal of Translational Science. 5 (2). doi:10.15761/JTS.1000257. ISSN 2059-268X.
  5. ↑ Surapornsawasd, Thunyaporn; Ogawa, Takuya; Tsuji, Michiko; Moriyama, Keiji (2014). "Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells". Journal of Human Genetics. 59 (6): 314–320. doi:10.1038/jhg.2014.24. ISSN 1434-5161.
  6. ↑ Gorlin, Robert J.; Marashi, Amir H.; Obwegeser, Hugo L. (1996). "Oculo-facio-cardio-dental (OFCD) syndrome". American Journal of Medical Genetics. 63 (1): 290–292. doi:10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G. ISSN 0148-7299.
  7. ↑ Rudrappa S, Kumar R, Kumar GS (2010). "Oculo-facio-cardio-dental syndrome in a girl and her mother". Indian J Hum Genet. 16 (3): 169–71. doi:10.4103/0971-6866.73416. PMC 3009431. PMID 21206708.
  8. ↑ 8.0 8.1 8.2 Kato J, Kushima K, Kushima F (2018). "New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report". Medicine (Baltimore). 97 (49): e13444. doi:10.1097/MD.0000000000013444. PMC 6310535. PMID 30544426.
  9. ↑ Morgan, T. M.; Colazo, J. M.; Duncan, L.; Hamid, R.; Joos, K. M. (2019). "Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome". Case Reports in Genetics. 2019: 1–8. doi:10.1155/2019/9382640. ISSN 2090-6544.
Retrieved from "https://www.wikidoc.org/index.php?title=Oculofaciocardiodental_syndrome&oldid=1653291"