Oculofaciocardiodental syndrome

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.

• OFCD initially was described by Hayward, an oral surgeon, 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 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.

• 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

• 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.
• 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.
• 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.
• Prognosis is generally poor in male.

Diagnosis

Diagnostic Study of Choice

• It usually manifests with a triad consist of radiculomegaly, cataract and abnormal facial features.

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.
• 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

• Ventricular septal defect
• Atrial septal defect
• Mild cardiomegaly
• Atrial hypertrophy
• Ventricular hypertrophy
• Benign peripheral pulmonic stenosis
• Mitral valve prolapse

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

dental abnormalities

dental abnormalities

Facial Abnormalities

• Long narrow face
• High nasal bridge
• Broad nasal tip with separated nasal cartilages
• Laterally curved and thick eyebrows
• Long philtrum
• Clefts of the hard / soft palate

facial abnormalities

Ocular Abnormalities

• Bilateral congenital cataracts
• Microphthalmia
• Regressive vision impairment
• Secondary glaucoma
• Ptosis
• Exotropia

Others

Some patients may have:

• velopharyngeal insufficiency during speech
• 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, 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.
• Cephalometric radiograph in some patients reveals elongated lower facial height and steep mandibular plane angle.. 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

• Dental Cone Beam CT (CBCT) can be performed in some patients and confirms round-calcified-tissue and PSLC which are associated with radiculomegaly.

  

  CT scan

MRI

• There are a few MRI findings associated with OFCD, though in some cases brain MRI has shown extracranial hemangioma on the frontal scalp.

Other Imaging Findings

• There are no other imaging findings associated with OFCD syndrome

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:

• Lower fixed appliance
• Upper fixed appliance
• Maxillary impaction
• Bilateral sagittal split osteotomy
• Genioplasty