This page is dedicated to the Craniofacial Anomalies 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 Craniofacial Anomalies research study was established at Boston Children’s Hospital in 2024 and is led by Dr. Daniel Balkin. The study aims to identify genetic causes of craniofacial anomalies and provide personalized medicine.

Disease information

Craniofacial anomalies are deformities that affect a child’s head and facial bones, including cleft lip and palate.

It is estimated that 75% of individuals with craniofacial anomalies have an underlying genetic cause of their condition. Learn more about craniofacial anomalies at Boston Children’s.

Participate in research

Physicians may refer their patients with diagnoses of craniofacial anomalies to Dr. Balkin. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more on Dr. Balkin’s studies, including the Craniofacial Anomalies study, in Dr. Balkan’s publications.

Patient care

Patients and their families with craniofacial anomalies can be seen by an expert multidisciplinary team in the Cleft and Craniofacial Center at Boston Children’s. Learn more about craniofacial anomalies.

Investigator

Daniel Balkin, MD, PhD 

Divisions

Notable publications by investigators

Disease support organizations

American Cleft Palate Craniofacial Association

The American Cleft Palate Craniofacial Association (ACPA) is a nonprofit association of individuals and healthcare professionals who work to support the care of patients affected by cleft and craniofacial conditions, optimizing outcomes through education, support, research, and interdisciplinary team care.

Children's Craniofacial Association

Children’s Craniofacial Association is a national nonprofit organization that addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.

FACES: The National Craniofacial Association

FACES assists children and adults with severe craniofacial anomalies in the United States by providing financial assistance for medical travel, providing information and resources, encouraging teens and children, and providing a support network.

Foundation for Faces of Children

Foundation for Faces of Children (FFC) is a nonprofit organization that focuses on developing funding for teaching materials and information for parents and collaborates with leading specialists to provide up-to-date programs and services for patients and parents regionally, nationally, and internationally.

National Foundation for Ectodermal Dysplasias (NFED)

NFED is a nonprofit organization that empowers and connects those touched by ectodermal dysplasias through education, support, and research.

​​World Craniofacial Foundation

World Craniofacial Foundation is a nonprofit organization that provides access to innovative surgical care for children and adults with abnormalities of the head and/or face, emotional support to patients and their families, and Education about craniofacial abnormalities and treatment to patients, their families, government agencies, insurance companies, physicians in training and the public.

Canadian Ectodermal Dysplasia Syndromes Association

The Canadian Ectodermal Dysplasia Syndromes Association is a nonprofit organization committed to enhancing the quality of life for individuals affected by ectodermal dysplasias through education, service, and support, while serving as a national information and networking resource.

Trusted sites