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Disease Profile
CODAS 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
Infancy
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)
Cerebral, ocular, dental, auricular, and skeletal syndrome; Cerebro-oculo-dento-auriculo-skeletal syndrome
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1458
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 dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ] |
0006482 |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Anteverted nares |
Upturned nostrils
Upturned nasal tip
Upturned nose
Nasal tip, upturned
[ more ] |
0000463 |
Short fingers or toes
|
0001156 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Coronal cleft vertebrae | 0003417 | |
Crumpled ear | 0009901 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late tooth eruption
Late eruption of teeth
[ more ] |
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flat face |
Flat facial shape
|
0012368 |
Global |
0001263 | |
Midline defect of the nose | 0004122 | |
Overfolded helix |
Overfolded ears
|
0000396 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Dislocated hip since birth
|
0001374 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Muscular |
Low or weak muscle tone
|
0001252 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Abnormality of the larynx | 0001600 | |
Extrahepatic biliary duct atresia | 0005242 | |
Hydroureter | 0000072 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Anal atresia |
Absent anus
|
0002023 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Genu valgum |
Knock knees
|
0002857 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the odontoid process | 0003311 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Metaphyseal dysplasia | 0100255 | |
Motor delay | 0001270 | |
Omphalocele | 0001539 | |
Pes valgus | 0008081 | |
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
0001250 | ||
Vocal cord paresis |
Weakness of the vocal cords
|
0001604 |
Percent of people who have these symptoms is not available through HPO | ||
Absent epiphyses |
Absent end part of bone
|
0010577 |
Atrioventricular canal defect | 0006695 | |
0000007 | ||
Broad skull |
Increased width of skull
Wide skull
[ more ] |
0002682 |
Delayed ossification of carpal bones | 0001216 | |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |