This page is dedicated to the Isolated Craniosynostosis research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Isolated Craniosynostosis research study was established at Boston Children’s in 2024 and is led by Dr. Daniel Balkin. The study has enrolled X patients to date.

Disease information

Isolated craniosynostosis is a condition in which the fibrous connections between the bones of the skull, called sutures, fuse together too early during a child’s development. This fusion can cause problems with brain and skull growth.

It is estimated that 20-25% of individuals with isolated craniosynstosis have an underlying genetic cause. Learn more about craniosynostosis at Boston Children's.

Participate in research

Physicians may refer their patients with diagnoses of isolated craniosynostosis to Dr. Balkan. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on Dr. Balkan’s publications.

Patient care

Patients and their families with isolated craniosynostosis can be seen by an expert multidisciplinary team in the Cleft and Craniofacial Center at Boston Children’s.

Investigators

Daniel Balkin, MD, PhD

Divisions

Notable publications by investigators

  1. Hospital Variation and Resource Use for Infants with Craniosynostosis Undergoing Open, Endoscopic, and Distraction Osteogenesis Surgical Techniques.
  2. Metopic ridge presenting to pediatric dermatology and vascular anomalies clinics.
  3. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia.
  4. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.

Disease support organizations

CAPPS

CAPPS — which stands for Craniosynostosis and Positional Plagiocephaly Support (now known as Deformational Plagiocephaly)— is the pioneer and leader in supporting and educating families diagnosed with Craniosynostosis and/or Positional Plagiocephaly.

Cranio Care Bears

Cranio Care Bears is a nonprofit organization whose mission is to spread awareness, support, and compassion through loving care packages to families of children facing surgery for craniosynostosis.

Courageous Faces Foundation

Courageous Faces Foundation is a nonprofit organization with a mission to dramatically improve the quality of life for those living with rare and severe medical conditions through direct, personalized and ongoing support so they can live their best life possible.

Headlines Craniofacial Support

Headlines Craniofacial Support is a nonprofit organization based in the UK. Their mission is to provide support, information, and advice to those dealing with these conditions, helping them navigate their challenges and improve their quality of life.

Trusted sites