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Disease Profile
Oculofaciocardiodental syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
MCOPS2; Microphthalmia syndromic 2; OFCD syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;
Summary
Oculofaciocardiodental
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 |
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 |
Webbed 2nd and 3rd toes
|
0004691 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Flexion |
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 |
0000501 | ||
Global |
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 |
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 | |
Drooping upper eyelid
|
0000508 | |
Retinal detachment |
Detached retina
|
0000541 |
0002650 | ||
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 |
DiagnosisMaking 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
Learn moreThese 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
In-Depth Information
References
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