Treacher Collins Syndrome
Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of the child’s ears, eyes, cheekbones and jaws.
Causes of Treacher Collins Syndrome
Researchers link Treacher Collins syndrome to prenatal gene mutations.
About half of all children who have the syndrome have someone in the family who has the syndrome.
But it also happens sporadically, meaning no family members have the syndrome.
Symptoms of Treacher Collins Syndrome
Children who have the syndrome have following distinctive facial characteristics
Their airways might be partially blocked, making it hard to breathe.
Their eyelids have a noticeable downward slant sometimes called
sad eyes. It may look as if they’ve been crying.They have a cleft palate, a condition where infants are born with an opening in the roof of their mouths. Cleft palates can make it difficult for babies to nurse or drink from bottles.
Their cheekbones appear flattened and are smaller than typical newborns.
Their lower jaws are smaller than most newborns.
Their ears might be smaller than most newborns or be shaped differently.
They might have hearing loss detected during routine newborn hearing tests. An additional examination might reveal problems with the three small bones that are your child’s middle ear. These bones transmit sound.
Diagnosis of Treacher Collins Syndrome
Healthcare providers might make a preliminary diagnosis based on regular newborn examinations.
If your child’s symptoms indicate Treacher Collins syndrome, your healthcare provider might refer you to a genetics specialist to confirm the preliminary diagnosis.
Treatment of Treacher Collins Syndrome
| Condition | Treatment |
|---|---|
| Nose - Extra tissue or bone is blocking the back of your child’s nose, making it hard for them to breathe through their nose. | Surgery to remove the extra bone or tissue |
| Lower jaw - Your child’s lower jaw is set at a steep angle. This is called micrognathia. About half of children with this condition have sleep apnea. It can also affect your child’s ability to eat. | If your child’s breathing issues are mild, changing sleep positions can help, such as having your child sleep on their side. Your child’s healthcare provider might recommend your child use a temporary tube, called a nose trumpet or a continuous positive airway pressure device (CPAP). More severe breathing problems might require surgery such as endotracheal tubes or tracheotomy. |
| Cleft palate | Surgery to close the gap in the roof of your child’s mouth. |
| Facial differences | These surgeries are called craniofacial reconstructions. They’re usually done during your child’s teenage years and as needed to help your child’s breathing and other physical symptoms. Not every child wants or needs facial reconstruction. |
| Eyes - The syndrome can affect the tissue and bones around your child’s eyes so your child’s eyes slant down. It can also create a notch in your child’s lower eyelid. | Surgery to fix the notch in your child’s lower eyelid. |
| Cheekbones - The syndrome can cause your child’s cheekbones to be smaller than usual, or to be missing. | Bone grafts or synthetic implants to rebuild cheekbones. |
| Jaws - Your child’s lower jaw and/or upper jaw might be set back at a steep angle, which affects their ability to eat and breath. | Corrective surgery to fix your child’s upper and lower jaws to correct their bite and help with breathing and chewing. |
| External ears - Your child’s external ear might be missing, be smaller than normal or be oddly shaped. | Surgeries to rebuild or build your child’s external ears using tissue and bone grafts or artificial materials. |
| Hearing - The syndrome can affect hearing in two ways. Your child might not develop ear canals, having an eardrum or the small bones that make up their middle ear. Or your child might have hearing structures that are oddly shaped, which means sound can’t get through them. | Surgery to build the missing hearing structures. Bone-anchored implants to support hearing. Speech therapy and educational support. |