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Oculofaciocardiodental syndrome


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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


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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


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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.

Showing of 90 |
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


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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


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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


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


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