CODAS syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic 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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of dental enamel	Very frequent (present in 80%-99% of cases)
Abnormality of dental morphology	Very frequent (present in 80%-99% of cases)
Abnormality of epiphysis morphology	Very frequent (present in 80%-99% of cases)
Anteverted nares	Very frequent (present in 80%-99% of cases)
Brachydactyly	Very frequent (present in 80%-99% of cases)
Cataract	Very frequent (present in 80%-99% of cases)
Coronal cleft vertebrae	Very frequent (present in 80%-99% of cases)
Crumpled ear	Very frequent (present in 80%-99% of cases)
Delayed eruption of teeth	Very frequent (present in 80%-99% of cases)
Delayed skeletal maturation	Very frequent (present in 80%-99% of cases)
Epicanthus	Very frequent (present in 80%-99% of cases)
Flat face	Very frequent (present in 80%-99% of cases)
Midline defect of the nose	Very frequent (present in 80%-99% of cases)
Overfolded helix	Very frequent (present in 80%-99% of cases)
Short metacarpal	Very frequent (present in 80%-99% of cases)
Short nose	Very frequent (present in 80%-99% of cases)
Congenital hip dislocation	Frequent (present in 30%-79% of cases)
Joint hyperflexibility	Frequent (present in 30%-79% of cases)
Muscular hypotonia	Frequent (present in 30%-79% of cases)
Ptosis	Frequent (present in 30%-79% of cases)
Scoliosis	Frequent (present in 30%-79% of cases)
Sensorineural hearing impairment	Frequent (present in 30%-79% of cases)
Abnormality of the larynx	Occasional (present in 5%-29% of cases)
Anal atresia	Occasional (present in 5%-29% of cases)
Cryptorchidism	Occasional (present in 5%-29% of cases)
Extrahepatic biliary duct atresia	Occasional (present in 5%-29% of cases)
Hydroureter	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Omphalocele	Occasional (present in 5%-29% of cases)
Proximal placement of thumb	Occasional (present in 5%-29% of cases)
Rectovaginal fistula	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Strabismus	Occasional (present in 5%-29% of cases)
Ventricular septal defect	Occasional (present in 5%-29% of cases)
Atrial septal defect	-
Autosomal recessive inheritance	-
Broad skull	-
Congenital cataract	-
Delayed ossification of carpal bones	-
Genu valgum	-
Hypoplasia of dental enamel	-
Hypoplasia of the corpus callosum	-
Hypoplasia of the odontoid process	-
Metaphyseal dysplasia	-
Polyhydramnios	-
Short humerus	-
Short phalanx of finger	-
Squared iliac bones	-
Vocal cord paresis	-

Last updated: 10/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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