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Disease Profile
Osteoglophonic dysplasia
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
Q87.1
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)
Osteoglophonic dwarfism; Fairbank-Keats syndrome; OGD
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 2645
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 form of the vertebral bodies | 0003312 | |
0001363 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Multiple unerupted teeth |
Multiple non-erupting teeth
|
0006283 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
30%-79% of people have these symptoms | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
5%-29% of people have these symptoms | ||
Abnormal bone ossification | 0011849 | |
Short fingers or toes
|
0001156 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Inguinal hernia | 0000023 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
0002650 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormal nasopharynx morphology | 0001739 | |
0000006 | ||
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad metatarsal |
Wide long bone of foot
|
0001783 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Broad phalanx |
Wide digital bones
|
0006009 |
Chordee | 0000041 | |
Cloverleaf skull | 0002676 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
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 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Frontal bossing | 0002007 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Hypospadias | 0000047 | |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Nasal obstruction |
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose
[ more ] |
0001742 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Pseudoarthrosis | 0005864 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ] |
0000586 |
Short foot |
Short feet
Small feet
[ more ]< 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
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