Rare Genetic Symptoms
Understand more about the most diagnosed symptoms and their relation to rare genetic syndromes.
What is a Rare Genetic Symptom?
Rare genetic symptoms vary between syndromes, and even for the same syndrome may vary widely amongst individuals in their presence and severity.
The symptoms associated with rare genetic syndromes may affect the physical and mental development of an individual. They may present at birth or develop later in childhood or life. Some rare genetic symptoms are progressive and worsen with time, while others may be alleviated with age.
More than one rare genetic symptom or feature must be identifiable to begin the diagnostic journey for a rare genetic syndrome.
Explore the most detected symptoms in our system (numbers are global and based on the data from 120 countries):
|Symptom Name||Total Detected*|
|Cleft palate/ cleft lip||60,000+|
|Recurrent otitis media||50,000+|
|Autism spectrum disorder||45,000+|
|Epicanthus | Epicanthal folds||40,000+|
|Long palpebral fissures (Long opening between the eyelids, strange eye shape)||100,000+|
|Depressed nasal bridge (depressed bridge of nose)||40,000+|
|Hypertelorism (widely-spaced eyes)||50,000+|
|Deep philtrum | long philtrum||35,000+|
|Down Slanted palpebral fissures (crying, sad eyes)||200,000+|