This page is dedicated to the Ectodermal Dysplasia and Cleft Lip or Palate 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 Ectodermal Dysplasia and Cleft Lip or Palate research study was established at Boston Children's Hospital in 2019 and is led by Dr. Ingrid Ganske.

Disease information

Ectodermal Dysplasia and Cleft Lip or Palate is a rare genetic disorder characterized by abnormalities to structures that arise from the outermost layer of the embryo (skin, hair, teeth) as well as a split in the upper lip (cleft lip) and an opening in the roof of the mouth (cleft palate). Learn more about ectodermal dysplasia and cleft lip or palate at Boston Children's Hospital.

Participate in research

While this specific study is no longer enrolling patients, physicians may refer their patients with ectodermal dysplasia and cleft lip or palate to Dr. Daniel Balkin’s Craniofacial Anomalies research study. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more on their studies, including the Craniofacial Anomalies study, in Dr. Balkan’s publications and Dr. Ganske’s research profile.

Patient care

Patients and their families with craniofacial anomalies can be seen by expert multidisciplinary teams in the Cleft and Craniofacial Center and Cleft Lip and Palate Program at Boston Children’s.

Investigator

Ingrid Ganske, MD

Divisions

Notable publications by investigators

Cleft Lip and Palate in Ectodermal Dysplasia

Disease support organizations

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.

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.

International

Canadian Ectodermal Dysplasia Syndromes Association

Trusted sites