Osteosclerosis and ectodermal dysplasia

background

Osteosclerosis and ectodermal dysplasia, also known as Cote-Katsantoni syndrome, is one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. Ectodermal dysplasias are genetic disorders that can be inherited in an autosomal dominant or recessive manner.
Symptoms of osteosclerosis and ectodermal dysplasia include atrial septal defect, low levels of neutrophils, growth delays, and intellectual disabilities.
Osteosclerosis and ectodermal dysplasia is an inherited genetic disorder, meaning that is passed down from family members. The exact genetic mutation or defect that causes this condition is unknown, as are the inheritance pattern and incidence of the disorder.
Osteosclerosis and ectodermal dysplasia is extremely rare, with only a few reported cases in the scientific literature. There is a lack of information on the life expectancy of individuals with osteosclerosis and ectodermal dysplasia.

Related Terms

Cote-Katsantoni syndrome, ectodermal dysplasia, inherited genetic disease, osteosclerosis.