Rare Pulmonology News

Disease Profile

DOOR syndrome

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

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) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound intellectual disability (represented by the "R"). In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.[1]

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
EEG abnormality
0002353
Gingival overgrowth
Gum enlargement
0000212
Global developmental delay
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 seizure
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 hypotonia
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 ptosis
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 palate
Cleft roof of mouth
0000175
Congenital hypothyroidism
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
Microcephaly
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
Peripheral neuropathy
0009830
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Renal agenes

Learn more

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on DOOR syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss DOOR syndrome. Click on the link to view a sample search on this topic.

References

  1. DOOR syndrome. National Organization for Rare Disorders (NORD). 2003; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/818/viewAbstract. Accessed 11/3/2011.

Rare Pulmonology News