Treacher Collins syndrome is a genetic condition characterized by problems with development of the bones and muscles of the face. A change, or mutation, in a gene known as TCOF1 causes Treacher Collins syndrome.
Signs and symptoms of Treacher Collins syndrome include
- small and abnormally formed ears,
- underdeveloped facial bones,
- cleft palate,
- a very small jaw and chin (micrognathia),
- eyes that slant downward,
- sparse eyelashes,
- hearing loss, or a
- notch in the lower eyelids called a coloboma.
Symptoms and signs vary widely among affected individuals.
Causes of Treacher Collins syndrome
People inherit it in an autosomal dominant manner, meaning that a person who has one copy of the defective gene (from either parent) will have the condition. However, about 60% of cases occur as a result of new, non-inherited mutations in people without a family history of the condition.
Other treacher collins syndrome symptoms and signs
- Cleft Palate
- Eyes That Slant Downward
- Hearing Loss
- Notch in the Lower Eyelids Called a Coloboma
- Small and Abnormally Formed Ears
- Sparse Eyelashes
- Underdeveloped Facial Bones
- Very Small Jaw and Chin (Micrognathia)
Main Article on Treacher Collins Syndrome Symptoms and Signs
Pictures, Images, Illustrations & Quizzes
Family Health History: Genetics, DNA Testing and Your Health
WebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
Genetics: 11 Surprising Things Your Genes Say About You
Explore what role DNA plays in your health, love life, and more in this WebMD slideshow.