Oculofaciocardiodental syndrome

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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] Mandana Safakhah, MD [3]

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 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

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.^[1]

Classification

There is no stablished 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. 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.^[2]

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

^[3]

Ocular Abnormalities

Others

Syndactyly of the second and third toes
Hammer-type flexion of the second and fourth toes
Radio-ulnar synostosis
Vertebral and rib anomalies
Intestinal malrotation
Hearing impairment
Mental and psychomotor retardation

Management

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

References

↑ ^1.0 ^1.1 ^1.2 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.
↑ 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.
↑ 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.
↑ 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.

[pmid21740180-1] 1.0 ^1.1 ^1.2 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.

[HiltonManson2007-2] 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.

[pmid21206708-3] 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.

[pmid30544426-4] 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.

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