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CODAS syndrome

Orpha number ORPHA1458
Synonym(s) Cerebro-oculo-dento-auriculo-skeletal syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1838180
MeSH
  • C536434
MedDRA -
SNOMED CT -

Summary

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

Expert reviewer(s)

  • Pr Alain VERLOES

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