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Disease Profile

Oculodentoosseous dysplasia recessive

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

ODOD recessive

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
Percent of people who have these symptoms is not available through HPO
2-4 toe cutaneous syndactyly
Webbed 2nd, 3rd and 4th toes
Webbed second, third and fourth toes

[ more ]

0005768
4-5 finger syndactyly
Webbed 4th-5th finger
0010705
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Autosomal recessive inheritance
0000007
Brachycephaly
Short and broad skull
0000248
Broad long bones
Wide long bones
Widened long bones

[ more ]

0005622
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fifth finger distal phalanx clinodactyly
0005769
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Frontal bossing
0002007
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
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules

[ more ]

0009748
Large fontanelles
Wide fontanelles
0000239
Long nose
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation

[ more ]

0003189
Long philtrum
0000343
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrodontia of permanent maxillary central incisor
0000675
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Mild global developmental delay
0011342
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Narrow mouth
Small mouth
0000160
Narrow nose
Decreased nasal breadth
Decreased nasal width
Thin nose

[ more ]

0000460
Persistent pupillary membrane
0009917
Short foot
Short feet
Small feet

[ more ]

0001773
Short palpebral fissure
Short opening between the eyelids
0012745
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small hand
Disproportionately small hands
0200055
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Telecanthus
Corners of eye widely separated
0000506
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430

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.

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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculodentoosseous dysplasia recessive. Click on the link to view a sample search on this topic.