Rare Pediatrics News
Disease Profile
Oto-palato-digital syndrome type 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.
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Age of onset
Neonatal
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)
Otopalatodigital syndrome type 2; Andre syndrome; OPD 2 syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 90652
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 | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Anodontia |
Failure of development of all teeth
|
0000674 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Cleft roof of mouth
|
0000175 | |
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 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow mouth |
Small mouth
|
0000160 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Short hallux |
Short big toe
|
0010109 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormal heart valve morphology | 0001654 | |
Abnormal vertebral segmentation and fusion | 0005640 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fibular aplasia |
Absent calf bone
|
0002990 |
Flared iliac wings | 0002869 | |
Global |
0001263 | |
Glossoptosis |
Retraction of the tongue
|
0000162 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Hypoplastic frontal sinuses | 0002738 | |
Hypospadias | 0000047 | |
Increased bone mineral density |
Increased bone density
|
0011001 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Omphalocele | 0001539 | |
Pierre-Robin sequence | 0000201 | |
Short palm | 0004279 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
Ureteral obstruction | 0006000 | |
5%-29% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Developmental |
0001087 | |
Encephalocele | 0002084 | |
Myelomeningocele | 0002475 | |
Preaxial |
0100258 | |
0002650 | ||
Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
Percent of people who have these symptoms is not available through HPO | ||
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Bulbous tips of toes | 0001782 | |
Conductive hearing impairment |
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. In-Depth Information
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