What are Doll-like facies?
Historically Doll-like facies definition referred to a unique facial appearance that included a round face, accompanied by full or fat cheeks, a short and smaller nose, as well as a small chin in comparison to the rest of the face.
This definition is no longer necessarily referred to, and instead, clinicians are advised to identify, measure, and diagnose each facial feature separately.
Understanding face-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 face contains the nose, eyes and mouth, all of which are sensory organs. The face also displays emotions and feelings and plays a crucial role in communication. The face runs from the forehead at the top, to the chin at the bottom and encompasses everything in between.
Symptoms affecting the face can for the most part be seen with the naked eye. Although diagnosing a face related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the face may affect its structure, shape and/ or function. Some features will affect just the appearance of the face while others may affect its ability to express emotions and to communicate non-verbally.
Doll-like facies is often observed in conditions such as congenital hypothyroidism, glycogen storage diseases (e.g., von Gierke disease), or other metabolic disorders. It can also be a non-specific feature in certain pediatric syndromes.
What should I do next?
In some instances, doll-like facies may be one of the features of a rare disease or genetic syndrome. To find out if someone with Doll-like Facies, 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.