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CARE Study FAQs

Study Overview Enrollment Updates FAQs

  • As of fall 2025, no new genetic causes have been identified in the small number of families analyzed. However, this is expected in the early stages of the study. Researchers need data from many more families to identify patterns and determine whether specific genetic changes are associated with laryngeal clefts.

  • If no genetic cause is identified, it does not mean there isn't one. Researchers may not yet recognize the genetic change responsible. As more families participate and genetic knowledge continues to grow, researchers may be able to identify causes that were not previously understood.

  • Yes. After the initial genetic analysis, family samples may be reanalyzed about once a year. If a genetic cause is identified for your family in the future, the study team will contact you to discuss the findings and provide a clinical report that can be shared with your healthcare providers.

  • Older estimates suggested laryngeal cleft occurred in about 1 in 10,000–20,000 live births, but this figure is based on early research and primarily reflects more severe cases (types 3 and 4).

    More recent studies suggest milder laryngeal clefts (types 1 and 2) are likely more common than previously thought. In children with chronic respiratory symptoms undergoing airway evaluation, mild clefts have been identified in up to 7.6% of cases.*

    The true incidence in the general population is still not well defined and may be higher than older estimates suggest.

    *Learn more: Wade Chien et al. (2006) — International Journal of Pediatric Otorhinolaryngology

  • The chance that another child in the family will have a laryngeal cleft depends on the underlying cause. If a laryngeal cleft occurs in one child and no genetic condition or family history is identified, the chance of it occurring again is thought to be relatively low. However, if multiple family members are affected or there is an underlying genetic condition, the chance may be as high as 50%.

    At this time, researchers do not have precise estimates because laryngeal clefts are rare and their genetic causes are not yet fully understood. Studies like the CARE Study are working to better understand these patterns so families can receive more accurate information and genetic counseling in the future.

Genetics

  • The CARE Study is designed to help researchers better understand the genetic causes of laryngeal clefts and other congenital anomalies. Researchers hope to identify genetic factors that have not yet been discovered and learn why some children are born with a laryngeal cleft. Discoveries from this research may lead to better ways to diagnose, treat, and care for individuals with a laryngeal cleft.

  • Every family who participates in the CARE Study helps advance our understanding of laryngeal clefts. The more families who join, the more information researchers have to identify patterns, discover new genetic causes, and better understand why laryngeal clefts occur.

    Because laryngeal clefts are rare, every participant makes a meaningful contribution. Larger studies make it easier to recognize shared genetic factors among families, which can help accelerate research and bring us closer to improving diagnosis, care, and support for future families.

  • You may or may not receive a direct benefit from participating in the CARE Study. If researchers identify a genetic cause of your family's laryngeal cleft, the study team will contact you to discuss the findings and provide a clinical report.

    Even if your family does not receive an answer, your participation contributes to research that may improve our understanding of the genetic causes of laryngeal clefts and help future children and families.

  • This research is being conducted at Boston Children's Hospital (BCH) in collaboration with hospitals all over the United States and several international institutions.

General

  • Anyone in the United States with a personal or family history of a laryngeal cleft is eligible to participate. Over time, the study team hopes to expand eligibility to additional countries.

  • If you choose to enroll, the study team will collect a saliva sample, medical/family history, and may review your medical records. You may be asked to complete several online surveys as well as developmental assessments over time.

    See CARE Study Enrollment for more details.

  • Families may participate remotely from wherever they live in the United States, or locally through BCH and Cincinnati Children’s Hospital Medical Center.

  • No, there is no age limit for the CARE Study. Individuals of any age are eligible to participate, whether they were diagnosed as an infant, child, or adult. The study is open to people with a congenital laryngeal cleft—meaning the laryngeal cleft was present at birth, even if it was not diagnosed until later in life.

  • If your child is 3 years old or younger, a sponge for saliva collection will automatically be included in the sample collection kit. If your child is older than 3 years and unable to spit into a tube, email the study team and request a sponge for saliva collection. Then follow directions (starting at a1:15) on this video.

Enrollment

Medically reviewed in 2026 by:
Wendy Chung, MD, PhD — Pediatrics, Boston Children's Hospital