Treacher Collins syndrome is a genetic condition characterized by abnormal development of facial bones and tissues. Here are the key features associated with the syndrome:
- Underdeveloped Facial Bones: Most individuals with Treacher Collins syndrome have underdeveloped cheekbones, jaw, and chin (micrognathia), leading to distinctive facial features.
- Cleft Palate: Some affected individuals are born with a cleft palate, an opening in the roof of the mouth, which can affect feeding and speech development.
- Airway Obstruction: Severe cases of Treacher Collins syndrome can lead to life-threatening respiratory problems due to the restriction of the infant’s airway.
- Genetic Cause: Treacher Collins syndrome is caused by mutations in the TCOF1 or POLR1D gene, inherited in an autosomal dominant pattern.
- Eye Abnormalities: Individuals with the syndrome may have downward-slanting eyes, sparse eyelashes, and a notch in the lower eyelids known as an eyelid coloboma. Some may also experience eye abnormalities that can lead to vision loss.
- Ear Malformations: Unusually formed ears, including small or absent ears, are common in Treacher Collins syndrome. Some individuals may also have defects in the middle ear, leading to hearing problems or hearing loss.
Treacher Collins syndrome varies in severity among affected individuals, with some experiencing more pronounced symptoms than others. Early diagnosis and management, including surgical interventions for cleft palate and hearing aids for hearing loss, can help improve quality of life for individuals with this condition. Regular medical follow-up is essential to monitor and address any associated health concerns.