Oculofaciocardiodental syndrome

Title

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Other Names:

MCOPS2; Microphthalmia syndromic 2; OFCD syndrome; MCOPS2; Microphthalmia syndromic 2; OFCD syndrome; Microphthalmia cataracts radiculomegaly and septal heart defects; Syndromic microphthalmia type 2; MAA2 (formerly); ANOP2 (formerly) See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases; Congenital and Genetic Diseases; Eye diseases; Mouth Diseases; Nervous System Diseases See More

This disease is grouped under:

Microphthalmia

Summary 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]

Last updated: 12/21/2012

Symptoms 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.

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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		0100349
Cupped ear	Cup-shaped ears Simple, cup-shaped ears [ more ]	0000378
Dandy-Walker malformation		0001305
Developmental cataract	Clouding of the lens of the eye at birth	0000519
Double outlet right ventricle		0001719
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypoplastic aortic arch	Underdeveloped aortic arch	0012304
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Persistence of primary teeth	Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ]	0006335
Radiculomegaly		0033189
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Percent of people who have these symptoms is not available through HPO
Anophthalmia	Absence of eyeballs Failure of development of eyeball Missing eyeball No eyeball [ more ]	0000528
Anteverted ears		0040080
Aortic valve stenosis	Narrowing of aortic valve	0001650
Asymmetry of the ears	Asymmetric ears	0010722
Blepharophimosis	Narrow opening between the eyelids	0000581
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Exotropia	Outward facing eye ball	0000577
Increased number of teeth	Extra teeth Increased tooth count Supplemental teeth [ more ]	0011069
Laterally curved eyebrow		0007733
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Motor delay		0001270
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Remnants of the hyaloid vascular system		0007968
Septate vagina	Double vagina	0001153
Short stature	Decreased body height Small stature [ more ]	0004322
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Visual loss	Loss of vision Vision loss [ more ]	0000572
X-linked dominant inheritance		0001423

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More 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.

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Rare Disease Day at NIH 2021
March 1, 2021

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