WNT10A-related conditions are a group of conditions that cause abnormal development of the skin, hair nails, teeth, and sweat glands.
Symptoms include missing one or more teeth, thickened skin, malformed nails, dry, thin hair, excessive sweating, and an increased risk of skin tumors and eyelid cysts. This group of conditions are not expected to impact a person’s intellect or life span.
These conditions are caused by pathogenic (disease-causing) variants in the WNT10A gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers may experience milder symptoms associated with the condition, including the absence of one or more permanent teeth. However, most carriers do not experience any symptoms related to the condition. If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
Other names for these conditions include odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome.
Resources:
National Foundation for Ectodermal Dysplasias
Revised June 2022
