CODAS Syndrome

CODAS Syndrome

Article
Ear, Nose, & Throat (ENT)
Brain & Nerve
+6
Contributed byMaulik P. Purohit MD MPHApr 24, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome
  • Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

What is CODAS Syndrome? (Definition/Background Information)

  • CODAS Syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies
  • 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
  • The differential diagnosis should include chondrodysplasia punctata (the rhizomelic, Conradi-Hunermann, and X-linked dominant types) and Kabuki syndrome. X-rays show delayed ossification, delayed bone age and spine and pelvic anomalies
  • To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and a girl from Brazil) have been reported
  • 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 requires a multidisciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics

(Source: CODAS Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets CODAS Syndrome? (Age and Sex Distribution)

  • CODAS Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for CODAS Syndrome? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for CODAS Syndrome
  • A positive family history may be an important risk factor, since it is reported that CODAS Syndrome may be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of CODAS Syndrome? (Etiology)

  • Etiology of CODAS Syndrome remains unknown but some of the features suggest involvement of a collagen gene defect
  • 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

(Source: CODAS Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of CODAS Syndrome?

The signs and symptoms of CODAS Syndrome may include:

  • Atrial septal defect
  • Atrioventricular canal defect
  • Broad skull
  • Congenital cataract
  • Delayed ossification of carpal bones
  • Generalized hypotonia
  • Genu valgum
  • Hypoplasia of dental enamel
  • Hypoplasia of the corpus callosum
  • Hypoplasia of the odontoid process
  • Metaphyseal dysplasia
  • Pes valgus
  • Polyhydramnios
  • Short humerus
  • Short phalanx of finger
  • Squared iliac bones
  • Vocal cord paresis

Very frequently present symptoms in 80-99% of the cases:

  • Abnormality of dental enamel
  • Abnormality of dental morphology
  • Abnormality of epiphysis morphology
  • Anteverted nares
  • Brachydactyly
  • Cataract
  • Coronal cleft vertebrae
  • Crumpled ear
  • Delayed eruption of teeth
  • Delayed skeletal maturation
  • Epicanthus
  • Flat face
  • Midline defect of the nose
  • Overfolded helix
  • Short metacarpal
  • Short nose

Frequently present symptoms in 30-79% of the cases:

Occasionally present symptoms in 5-29% of the cases:

  • Abnormality of the larynx
  • Anal atresia
  • Cryptorchidism
  • Extrahepatic biliary duct atresia
  • Hydroureter
  • Nystagmus
  • Omphalocele
  • Proximal placement of thumb
  • Rectovaginal fistula
  • Seizures
  • Strabismus
  • Ventricular septal defect

(Source: CODAS Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is CODAS Syndrome Diagnosed?

CODAS Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of CODAS Syndrome?

The complications of CODAS Syndrome may include:

  • Vision loss
  • Heart defects
  • Walking difficulties due to spinal abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is CODAS Syndrome Treated?

Presently, there is no cure for CODAS Syndrome. 

  • The treatment is usually given to manage the signs and symptoms and any complications that develops
  • Management requires a multidisciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics

(Source: CODAS Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can CODAS Syndrome be Prevented?

  • Currently, CODAS Syndrome may not be preventable, since the cause of this disorder is unknown
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of CODAS Syndrome? (Outcomes/Resolutions)

  • The prognosis of CODAS Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for CODAS Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

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Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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