Oculofaciocardiodental syndrome: Difference between revisions

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'''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 (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 [[heterygous]] female only. Due to its lethal affects on male, there has been no report of affected male. Common signs ad symptoms include [[cataract]], small deep-set eyes, long narrow face, heart defects and teeth with large roots.
==Historical Perspective==


* 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==
==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. [[BCOR]] gene provides instructions for making [[BCL6 corepressor]] protein. The [[BCL6 corepressor]] play an essential role in early embryonic development, including the formation of the eyes and several other tissues and organs like cardiovascular system and face tissues. It can also involve in specifying the left and right sides of the body in the developing embryo.<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>
* 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.
==Historical Perspective==
* It can also involve in specifying the left and right sides of the body in the developing embryo.
 
==Causes==
Oculofaciocardiodental syndrome is very rare; the incidence is estimated to be less than per million people. OFCD initially was described by Hayward, an oral surgen, in 1980 as ocular, facial, cardiac and dental abnormalities. In 1999, Schulze BR discovered that this syndrome has lethal affects on effected 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 characteristics including delayed tooth eruption and prolonged retention of primary teeth were described in 1990 by Marashi and Gorlin.<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>
* 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.  
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[[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>]]
[[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>]]
[[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>]]
[[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>
===Facial Abnormalities===
* 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.
 
===Echocardiography===
* [[Face|Long narrow face]]  
* Echocardiography may be helpful in detection and following up of cardiovascular manifestation of OFCD.
* [[nasal bridge|High nasal bridge]]  
* Echocardiographic findings of OFCD include:
* [[Nose|Broad nasal tip with separated nasal cartilages]]
===CT scan===
* [[eyebrow|Laterally curved and thick eyebrows]]
* 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>]]
* [[philtrum|Long philtrum]]
===MRI===
* [[Cleft palate|Clefts of the hard / soft palate]]
* 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>
<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>
===Other Imaging Findings===
[[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>]]
* There are no other imaging findings associated with OFCD syndrome
 
===Other Diagnostic Studies===
===Ocular Abnormalities===
There are no other diagnostic studies associated with OFCD syndrome
 
==Treatment==
* [[cataract|Bilateral congenital cataracts]]  
* The OFCD management includes [[surgical]] interventions.
* [[Microphthalmia]]  
===Surgery===
* [[vision impairment|Regressive vision impairment]]  
*[[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.
* [[glaucoma|Secondary glaucoma]]
* 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>
* [[Ptosis]]
** Lower fixed appliance
* [[Exotropia]]
** Upper fixed appliance
 
** Maxillary impaction
===Others===
** Bilateral sagittal split osteotomy
 
** [[Genioplasty]]
* [[Syndactyly]] of the second and third toes
===Primary Prevenytion===
* Hammer-type [[flexion]] of the second and fourth toes
* There are no established measures for the [[primary prevention]] of OFCD syndrome.
* Radio-ulnar [[synostosis]]
===Secondary Prevention===
* Vertebral and rib anomalies
* There are no established measures for the [[secondary prevention]] of OFCD syndrome.
* [[Intestinal malrotation]]  
* [[Hearing impairment]]  
* [[Mental retardation|Mental and psychomotor retardation]]
 
==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.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 16:42, 19 August 2020

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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.
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