CODAS syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

Orpha Number: 1458

Disease 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.

Last updated: 11/13/2008

Symptoms 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.

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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	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ 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 eruption of teeth Late tooth eruption [ 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	Abnormal curving of the spine	0002650
Sensorineural hearing impairment		0000407
5%-29% of people have these symptoms
Abnormality of the larynx		0001600
Anal atresia	Absent anus	0002023
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Extrahepatic biliary duct atresia		0005242
Hydroureter		0000072
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Omphalocele		0001539
Proximal placement of thumb	Attachment of thumb close to wrist	0009623
Rectovaginal fistula		0000143
Seizures	Seizure	0001250
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Percent of people who have these symptoms is not available through HPO
Absent epiphyses	Absent end part of bone	0010577
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
Atrioventricular canal defect		0006695
Autosomal recessive inheritance		0000007
Broad skull	Increased width of skull Wide skull [ more ]	0002682
Congenital cataract	Clouding of the lens of the eye at birth	0000519
Delayed ossification of carpal bones		0001216
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 corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypoplasia of the odontoid process		0003311
Lumbar scoliosis		0004626
Metaphyseal dysplasia		0100255
Pes valgus		0008081
Polyhydramnios	High levels of amniotic fluid	0001561
Short humerus	Short long bone of upper arm Short upper arms [ more ]	0005792
Short phalanx of finger	Short finger bones	0009803
Squared iliac bones		0003177
Ventriculomegaly		0002119
Vocal cord paresis	Weakness of the vocal cords	0001604

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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