Oculofaciocardiodental syndrome

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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 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

Oculofaciocardiodental syndrome is very rare; the incidence is estimated to be less than per million people.

Classification

  • There is no established system for classification of OFCD.

Pathophysiology

  • 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.

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 stablished risk factors for OFCD syndrome.

Screening

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

Natural History, Complications, and Prognosis

  • If left untreated, patients with Blau syndrome may progress to develop cardiac failure and blindness.[5]
  • Prognosis is generally poor in male.

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • 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.[6]
  • Facial manifestations include long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft.
  • VSD, ASD and MVD are its heart defects.
  • Its dental symptoms include radiculomegaly, delayed loss of primary teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.

Physical Examination

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

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.[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]

Facial Abnormalities

facial abnormalities[8]

Ocular Abnormalities

Others

Some patients may have:[4]

Laboratory findings

  • There are no diagnostic laboratory findings associated with OFCD

Electrocardiogram

  • In patients with OFCD, ECG is usually normal, though in patients with VSD, LV hypertrophy can be detected in ECG.

X-ray

  • 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.
  • Echocardiogtaphic findings of OFCD include:

CT scan

MRI

Other Imaging Findings

  • There are no other imaging findings associated with OFCD syndrome

Other Diagnostic Studies

Treatment

  • The OFCD management includes surgical therapies mostly and there is no medical therapy has been confirmed yet.

Surgical therapy

Surgery is the mainstay of treatment for OFCD which includes orthodontic treatment for dental manifestation, 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. 5.0 5.1 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.
  6. 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.
  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.