CODAS syndrome

Alternate names

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

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.

Cause

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

Inheritance

Autosomal recessive inheritance, a 25% chance

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.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of dental enamel(Abnormal tooth enamel)
• Abnormality of dental morphology(Abnormality of dental shape)
• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Anteverted nares(Nasal tip, upturned)
• Brachydactyly(Short fingers or toes)
• Cataract(Cloudy lens)
• Coronal cleft vertebrae
• Crumpled ear
• Delayed eruption of teeth(Delayed eruption)
• Delayed skeletal maturation(Delayed bone maturation)
• Depressed nasal bridge(Depressed bridge of nose)
• Epicanthus(Eye folds)
• Flat face(Flat facial shape)
• Global developmental delay
• Midline defect of the nose
• Overfolded helix(Overfolded ears)
• Short metacarpal(Shortened long bone of hand)
• Short nose(Decreased length of nose)
• Short stature(Small stature)

30%-79% of people have these symptoms

• Congenital hip dislocation(Dislocated hip since birth)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Muscular hypotonia(Low or weak muscle tone)
• Ptosis(Drooping upper eyelid)
• Scoliosis
• Sensorineural hearing impairment

5%-29% of people have these symptoms

• Abnormality of the larynx
• Extrahepatic biliary duct atresia
• Hydroureter
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Proximal placement of thumb(Attachment of thumb close to wrist)
• Strabismus(Cross-eyed)
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)

1%-4% of people have these symptoms

• Anal atresia(Absent anus)
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Conductive hearing impairment(Conductive deafness)
• Cryptorchidism(Undescended testes)
• Gastroesophageal reflux(Acid reflux)
• Generalized hypotonia(Decreased muscle tone)
• Genu valgum(Knock knees)
• Hypoplasia of dental enamel(Underdeveloped teeth enamel)
• Hypoplasia of the odontoid process
• Intellectual disability(Mental deficiency)
• Metaphyseal dysplasia
• Motor delay
• Omphalocele
• Pes valgus
• Rectovaginal fistula(Abnormal connection between rectum and vagina)
• Seizure
• Vocal cord paresis(Weakness of the vocal cords)

Diagnosis

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 .

Treatment

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

NIH genetic and rare disease info

• NIH info on CODAS syndrome

CODAS syndrome is a rare disease.

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