Frontonasal dysplasia is a rare genetic disorder that affects the development of the head and face. It is characterized by a wide range of physical abnormalities, primarily involving the forehead, nose, and eyes. The severity and specific features of frontonasal dysplasia can vary widely among affected individuals.
Facial Abnormalities: One of the most prominent symptoms of frontonasal dysplasia is the presence of facial abnormalities. These may include a wide and flat nasal bridge, widely spaced eyes (hypertelorism), a broad and high forehead, and a cleft lip or palate. The nose may be small or underdeveloped, and the nostrils may be narrow or absent. The shape and size of the eyes can also be affected, with some individuals having droopy eyelids (ptosis) or a lack of eye movement coordination (strabismus).
Cranial Defects: In addition to facial abnormalities, frontonasal dysplasia can also involve defects in the skull and brain. These defects may include an abnormally shaped skull (craniosynostosis), where the bones of the skull fuse together prematurely. This can lead to an abnormal head shape, such as a triangular or elongated appearance. Some individuals may also have an opening in the skull (cranial defect) or an abnormal growth of brain tissue (encephalocele).
Dental Issues: Dental abnormalities are common in individuals with frontonasal dysplasia. These may include missing teeth (hypodontia), extra teeth (supernumerary teeth), or misalignment of the teeth (malocclusion). The roof of the mouth (palate) may also be affected, with some individuals having a cleft palate or a high-arched palate.
Intellectual Disability: While not always present, some individuals with frontonasal dysplasia may have intellectual disability or developmental delays. The severity of intellectual disability can vary widely, ranging from mild to severe. It is important to note that not all individuals with frontonasal dysplasia will experience intellectual disability.
Other Features: In some cases, frontonasal dysplasia may be associated with additional features. These can include hearing loss, heart defects, limb abnormalities, and genitourinary abnormalities. The presence and severity of these additional features can vary among affected individuals.
It is important to note that the symptoms and severity of frontonasal dysplasia can vary widely among individuals. Some individuals may have mild facial abnormalities and no other associated features, while others may have more pronounced physical abnormalities and additional health issues. The specific combination of symptoms and their severity can help healthcare professionals diagnose and manage frontonasal dysplasia.