This is a recently reported inherited syndrome consisting of multiple severe congenital malformations involving multiple organs.
Infants are born with a mild decrease in head size, a flattened face, crumpled and low-set ears, droopy eyelids, and difficulty breathing due to malformations in the windpipe. They muscle tone is decreased resulting in a ‘floppy infant’. Dense cataracts are noted within the first few months. Difficulty in swallowing is common and excessive salivation complicates this. Generalized developmental delays, both physical and mental are evident cognitive deficits commonly occur. There may be defects in the inner wall of the heart. Brain imaging reveals serious malformation in numerous structures. The spinal vertebrae may be malformed and abnormal spinal curvature (scoliosis) can develop. Short stature is common. The anal opening may be imperforate and there may be an abnormal opening between the vagina and rectum (rectovaginal fistula) while in males the testes may not descend properly. Hearing loss is often present. The teeth are late in erupting and may be shaped abnormally. Bone X-rays show abnormalities in growth and formation.
This condition is inherited in an autosomal recessive pattern in which both genes are changed (mutated). When both carrier parents with a single mutation, who are clinically normal, they can expect that 1 in 4 of their children will have this condition.
The diagnosis can be suspected at birth by a pediatrician or medical geneticist. However, genetic studies are important for the confirmation. Other specialists that may be involved are urologists, neurologists, hearing specialists, ophthalmologists, nutritionists, orthopedists, and dentists.
Difficulties in breathing are responsible for some neonatal deaths. The oldest patient with CODAS syndrome died an accidental death at the age of 14 years. Infants may require a stomach tube for feeding. Signs such as droopy eyelids can be surgically corrected while cataracts can be removed. However, careful consideration should be given to the selection of patients for extensive surgical repair because of the sometimes life-threatening nature of other malformations.