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Disease Profile

Oculofaciocardiodental syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

MCOPS2; Microphthalmia syndromic 2; OFCD syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;

Summary

Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Bifid nasal tip
Cleft nasal tip
0000456
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Delayed eruption of teeth
Delayed eruption
Late tooth eruption
Late eruption of teeth
Eruption, delayed
Delayed tooth eruption
Delayed teeth eruption

[ more ]

0000684
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Microphthalmia
Abnormally small eyeball
0000568
30%-79% of people have these symptoms
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Broad palm
Broad hand
Broad hands
Wide palm

[ more ]

0001169
Flexion contracture of the 2nd toe
0010327
Flexion contracture of the 4th toe
0010339
Fused teeth
Fusion of teeth
Joined teeth

[ more ]

0011090
Hammertoe
Hammertoes
Hammer toe

[ more ]

0001765
Long philtrum
0000343
Misalignment of teeth
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth

[ more ]

0000692
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Oligodontia
Failure of development of more than six teeth
0000677
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent nasal root
Prominent bridge of nose
Protruding nasal bridge
Protruding bridge of nose

[ more ]

0000426
Radioulnar synostosis
Fused forearm bones
0002974
Submucous cleft hard palate
0000176
5%-29% of people have these symptoms
Adrenal insufficiency
0000846
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cubitus valgus
Outward turned elbows
0002967
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile

[ more ]

0004325
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
Ectopia lentis
0001083
Feeding difficulties in infancy
0008872
Flexion contracture
Flexed joint that cannot be straightened
0001371
Genu valgum
Knock knees
0002857
Glaucoma
0000501
Global developmental delay
0001263
Hand clenching
Clenched hands
0001188
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows

[ more ]

0002553
Hypospadias
0000047
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intestinal malrotation
0002566
Iris coloboma
Cat eye
0000612
Mitral valve prolapse
0001634
Patent ductus arteriosus
0001643
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery
0004969
Phthisis bulbi
0000667
Ptosis
Drooping upper eyelid
0000508
Retinal detachment
Detached retina
0000541
Scoliosis
0002650
Seizure
0001250
Sensorineural hearing impairment
0000407
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Single median maxillary incisor
Only one upper front tooth
0006315
Spastic paraparesis
0002313
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Umbilical hernia
0001537
1%-4% of people have these symptoms
2-3 toe cutaneous syndactyly
Webbed skin of 2nd-3rd toes
0005709
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Bifid uvula
0000193
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Contracture of the proximal interphalangeal joint of the 2nd toe
0100348
Contracture of the proximal interphalangeal joint of the 3rd toe

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus Genetics contains information on Oculofaciocardiodental syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculofaciocardiodental syndrome. Click on the link to view a sample search on this topic.

References

  1. Oculofaciocardiodental syndrome. Genetics Home Reference. May 2008; https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome. Accessed 12/21/2012.

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