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Disease Profile
DOOR 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.
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Age of onset
Neonatal
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)
Digitorenocerebral syndrome; Autosomal recessive deafness-onychodystrophy syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases;
Summary
Deafness onychodystrophy osteodystrophy and mental retardation (DOOR)
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 fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Absent fingernail | 0001817 | |
0002353 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 |
Global |
0001263 | |
Long philtrum | 0000343 | |
Toenail dysplasia |
Abnormal toenail development
|
0100797 |
Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ] |
0012810 |
Wide nasal bridge |
Broad nasal bridge
Broadened nasal bridge
Broad nasal root
Increased width of nasal bridge
Increased width of bridge of nose
Increased breadth of nasal bridge
Increased breadth of bridge of nose
Wide bridge of nose
Nasal bridge broad
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Aplasia/Hypoplasia of the phalanges of the 2nd toe |
Absent/small bones of 2nd toe
Absent/underdeveloped bones of 2nd toe
[ more ] |
0010347 |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Bulbous nose | 0000414 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Focal impaired awareness seizure | 0002384 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Increased urine alpha-ketoglutarate concentration | 0012402 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Low anterior hairline |
Low-set frontal hairline
Low frontal hairline
[ more ] |
0000294 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Open mouth |
Gaped mouthed appearance
Gaped jawed appearance
Slack jawed appearance
[ more ] |
0000194 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Poor suck |
Poor sucking
|
0002033 |
Short 5th finger |
Short fifth finger
Short pinkie finger
Short pinky finger
Short little finger
Short fifth fingers
[ more ] |
0009237 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Thick lower lip vermilion |
Increased volume of lower lip
Prominent lower lip
Plump lower lip
[ more ] |
0000179 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
5%-29% of people have these symptoms | ||
Aspiration pneumonia | 0011951 | |
Autistic behavior | 0000729 | |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad alveolar ridges | 0000187 | |
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 |
Capillary hemangioma |
Strawberry birthmark
|
0005306 |
Cleft roof of mouth
|
0000175 | |
Underactive thyroid gland from birth
|
0000851 | |
Cystic renal dysplasia | 0000800 | |
Dandy-Walker malformation | 0001305 | |
Delayed eruption of permanent teeth |
Delayed eruption of adult teeth
|
0000696 |
Double outlet right ventricle | 0001719 | |
Frontal bossing | 0002007 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Macrodontia of permanent maxillary central incisor | 0000675 | |
Malalignment of the great toenail | 0031282 | |
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
[ more ] |
0000252 | |
Myoclonus | 0001336 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Optic atrophy | 0000648 | |
0009830 | ||
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Renal agenes
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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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