Oculofaciocardiodental syndrome is a rare

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type ...

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

Presentation

The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly),

heart defects A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...

and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features of the condition include: * Face ** Deep set eyes ** Broad nasal tip divided by a cleft * Eyes ** Microphthalmia (small eyes) ** Early

cataract A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble ...

s **

Glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...

* Teeth ** Radiculomegaly (teeth with very large roots) ** Delayed loss of primary teeth ** Missing (oligodontia) or abnormally small teeth ** Misaligned teeth ** Defective

tooth enamel Tooth enamel is one of the four major tissues that make up the tooth in humans and many other animals, including some species of fish. It makes up the normally visible part of the tooth, covering the crown. The other major tissues are dentin, ...

Heart defects A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...

Atrial The atrium ( la, ātrium, , entry hall) is one of two upper chambers in the heart that receives blood from the circulatory system. The blood in the atria is pumped into the heart ventricles through the atrioventricular valves. There are two at ...

and/or ventricular defects ** Mitral valve prolapse * Mild

intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signif ...

and conductive or

sensorineural Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve ( cranial nerve VIII). SNHL accounts for about 90% of r ...

hearing loss may occur.

Genetics

This condition is caused by lesions in the '' BCOR''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

located on the short arm of the

X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex ...

(Xp11.4). This

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...

encodes the BCL6

corepressor In the field of molecular biology, a corepressor is a molecule that represses the expression of genes. In prokaryotes, corepressors are small molecules whereas in eukaryotes, corepressors are proteins. A corepressor does not directly bind to DNA, ...

, but little is currently known about its function. The inheritance is

. A genetically related disorder is

Lenz microphthalmia syndrome Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes ( microphthalmos) sometimes with droopy eyelids ( blepharoptosis), resulting in visual impairment or blindness. Eye problems may ...

Diagnosis

Diagnosis can be confirmed through DNA testing.

Treatment

History

The first features of this syndrome noted were the abnormal teeth, which were described by Hayward in 1980.

References

{{reflist X-linked dominant disorders Syndromes