Rare Rheumatology News

Disease Profile

CODAS 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

Infancy

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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

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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)

Cerebral, ocular, dental, auricular, and skeletal syndrome; Cerebro-oculo-dento-auriculo-skeletal syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1458

Definition
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

Epidemiology
To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported.

Clinical description
Characteristic features consist of psychomotor delay, cataracts, abnormally shaped teeth (including enamel projections extending from the tips of the cusps), delayed tooth eruption, malformed ears (overfolded and crumpled ears), sensorineural hearing loss, short stature with marked epiphyseal dysplasia, and an unusual facial phenotype characterized mainly by ptosis, epicanthal folds and a grooved nose.

Etiology
Etiology remains unknown but some of the features suggest involvement of a collagen gene defect.

Diagnostic methods
X-rays show delayed ossification, delayed bone age and spine and pelvic anomalies.

Differential diagnosis
The differential diagnosis should include chondrodysplasia punctata (the rhizomelic, Conradi-Hunermann, and X-linked dominant types) and Kabuki syndrome (see these terms).

Genetic counseling
The occurrence of two affected children within the Manitoba Mennonite community (a genetic isolate) suggests autosomal recessive inheritance, but other modes of transmission could not be excluded. Familial recurrence has not been documented.

Management and treatment
Management requires a multidisciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics.

Visit the Orphanet disease page for more resources.

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.

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. 
  • 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 CODAS syndrome. Click on the link to view a sample search on this topic.

Rare Rheumatology News

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
Brachydactyly
Short fingers or toes
0001156
Cataract
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 developmental delay
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
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Congenital hip dislocation
Dislocated hip since birth
0001374
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Muscular hypotonia
Low or weak muscle tone
0001252
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Sensorineural hearing impairment
0000407
5%-29% of people have these symptoms
Abnormality of the larynx
0001600
Extrahepatic biliary duct atresia
0005242
Hydroureter
0000072
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Strabismus
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
Intellectual disability
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
Seizure
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
Autosomal recessive inheritance
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