What are down slanted palpebral fissures?
When the elliptic space or the opening between the two eyelids slants downwards. The lateral aspect of the eye is down-slanted for the medial aspect. A downward slant measuring more than two standard deviations below the mean would meet the definition of this symptom. Down-slanted palpebral fissures may be one of the unique facial features of several genetic syndromes.
Understanding eye-related symptoms and features
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The eye is a part of the ocular and visual systems of the body. The ocular system includes the eye and its central vision system (cornea, lens, eye fluids), all of the parts that make vision possible.
Symptoms affecting the eyes may be congenital, present at birth, or they may develop later in life. Sometimes surgery may be an option to correct them.
Symptoms relating to the eyes may affect their structure and function including their ability to see, other times they may simply affect the shape or appearance of the eye without any impact on vision.
Down-slanted palpebral fissures are commonly seen in genetic syndromes such as Noonan syndrome, Treacher Collins syndrome, or Marfan syndrome. Their presence, particularly alongside other distinct features, can aid in clinical diagnosis.
What should I do next?
In some instances, down-slanted palpebral fissures may be one of the features of a rare disease or genetic syndrome. To find out if someone with Down Slanted Palpebral Fissures, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.