Short answer · Medically reviewed summary · Last updated: 2023-07-13
LADD syndrome, also known as lacrimo-auriculo-dento-digital syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of physical abnormalities involving the tear ducts, ears, teeth, and fingers.
Is LADD syndrome hereditary?
Is LADD syndrome hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
LADD syndrome, also known as lacrimo-auriculo-dento-digital syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of physical abnormalities involving the tear ducts, ears, teeth, and fingers.
The inheritance pattern of LADD syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In autosomal dominant disorders, only one copy of the mutated gene is necessary for the disorder to be present.
The specific gene associated with LADD syndrome is called FGF10. Mutations in this gene are responsible for the development of the syndrome. These mutations can occur spontaneously in an affected individual or be inherited from an affected parent.
It is important to note that not all individuals with a mutation in the FGF10 gene will develop LADD syndrome. This is due to a phenomenon called variable expressivity, where the severity and range of symptoms can vary among affected individuals. Some individuals may have mild manifestations of the syndrome, while others may have more severe symptoms.
Genetic counseling is recommended for individuals with LADD syndrome or a family history of the condition. A genetic counselor can provide information about the inheritance pattern, recurrence risks, and available testing options.
