Rare Cardiology News
Advertisement
Disease Profile
Orofaciodigital syndrome 2
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.
<1 >
Age of onset
Infancy
ICD-10
Q87.0
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)
OFD2; OFD syndrome 2; Oral-facial-digital syndrome type 2;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orofaciodigital
Symptoms
- Facial findings including nodules (bumps) of the tongue, a split in the lip and/or palate (cleft lip and/or palate), a thickened frenulum (cord of
tissue ) under the tongue or between the lip and gum, and an unusually wide nasal bridge resulting in widely spaced eyes (dystopia canthorum) - Finger and toe findings including narrow, short fingers and toes (clinobrachydactyly),
syndactyly (fused fingers and toes), presence of more than five fingers on hands and/or five toes on feet (polydactyly ), and a Y-shaped central metacarpal (bone that connects the fingers to the hands)
Other possible findings include: conductive hearing loss, central nervous system impairments (porencephaly and hydrocephaly),
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal oral frenulum morphology | 0000190 | |
Accessory oral frenulum | 0000191 | |
Agenesis of central incisor |
Absent central incisor
|
0006289 |
Bifid nasal tip |
Cleft nasal tip
|
0000456 |
Bifid tongue |
Cleft tongue
Split tongue
Forked tongue
[ more ] |
0010297 |
Short fingers or toes
|
0001156 | |
Broad first metatarsal |
Wide 1st long bone of foot
|
0010068 |
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 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Complete |
Complete duplication of big toe bones
|
0010100 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Finger clinodactyly | 0040019 | |
Finger syndactyly | 0006101 | |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Hamartoma of tongue | 0011802 | |
High palate |
Increased palatal height
Elevated palate
[ more ] |
0000218 |
Hypoplasia of teeth | 0000685 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Lobulated tongue |
Bumpy tongue
|
0000180 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Median |
Central cleft upper lip
|
0000161 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Preaxial foot polydactyly | 0001841 | |
Preaxial hand polydactyly |
Extra thumb
|
0001177 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Submucous cleft soft palate | 0011819 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Tongue nodules | 0000199 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Y-shaped metacarpals |
Y-shaped long bone of hand
|
0006042 |
5%-29% of people have these symptoms | ||
Apnea | 0002104 | |
Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
Atrioventricular canal defect | 0006695 | |
Central retinal vessel vascular tortuosity | 0007768 | |
Cleft roof of mouth
|
0000175 | |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Global |
0001263 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the epiglottis | 0005349 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Mesomelic leg shortening | 0004987 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Peg-shaped maxillary lateral incisors | 0006342 | |
Polysyndactyly of hallux | 0005873 | |
Porencephalic cyst |
Cavity within brain
|
0002132 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
0002650 | ||
Short tibia |
Short shinbone
Short skankbone
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. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. 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. Rare Cardiology News |