Frontonasal dysplasia Klippel–Feil syndrome

Frontonasal dysplasia Klippel–Feil syndrome is a rare, complex genetic disorder that affects the development of the head and neck. It is characterized by a broad range of physical abnormalities that can vary greatly in severity among affected individuals.

Overview

Frontonasal dysplasia Klippel–Feil syndrome is a combination of two separate conditions: Frontonasal dysplasia and Klippel-Feil syndrome. Frontonasal dysplasia is a disorder that affects the development of the face, particularly the forehead and nose. Klippel-Feil syndrome is a bone disorder characterized by the abnormal fusion of two or more spinal bones in the neck.

Symptoms

The symptoms of Frontonasal dysplasia Klippel–Feil syndrome can vary greatly among affected individuals. Common symptoms include a wide space between the eyes, a broad nose, a split in the middle of the face, and a short neck. Other symptoms can include hearing loss, vision problems, and difficulties with breathing and swallowing.

Causes

Frontonasal dysplasia Klippel–Feil syndrome is caused by mutations in specific genes. These mutations can be inherited from a parent or can occur spontaneously. The exact genes involved can vary among affected individuals.

Diagnosis

Diagnosis of Frontonasal dysplasia Klippel–Feil syndrome is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These tests can include genetic testing, imaging studies, and other diagnostic procedures.

Treatment

Treatment of Frontonasal dysplasia Klippel–Feil syndrome is symptomatic and supportive. It can include surgery to correct physical abnormalities, physical therapy to improve mobility, and other interventions to manage symptoms and improve quality of life.

See also

• Genetic disorder
• Frontonasal dysplasia
• Klippel-Feil syndrome
• Genetic testing

NIH genetic and rare disease info

• NIH info on Frontonasal dysplasia Klippel–Feil syndrome

Frontonasal dysplasia Klippel–Feil syndrome is a rare disease.

Frontonasal dysplasia Klippel–Feil syndrome Resources
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