The 2023 meeting was held in Denver, Colorado and hosted by Children’s Hospital Colorado. A best practices manuscript was developed providing guidance for genetic screening, which will be published in a peer reviewed journal shortly. Thank you to our sponsors, BioMarin Pharaceutical Inc BridgeBio, Ultragenyx Phamaceutical and Tyra Biosciences, Inc.

The 2022 Annual SDMC meeting was held November 4-6, 2022 in Baltimore, MD, hosted by Johns Hopkins University Medical Center. Thank you to the sponsor of the meeting, BioMarin Pharmaceutical Inc. A publication about the quality of life of people with skeletal dysplasia is expected to be published in June, 2023 in the American Journal of Medical Genetics. Check our resources section for additional information.

Due to the Covid-19 pandemic, our annual meeting will be held online.

The anticipated outcome of the meeting will be the adaptation of our prior publications for patients, their families, and caregivers in user-friendly forms of short videos, one-page summaries, brochures, and short lay articles available on our website. We will also develop some slides for non-dysplasia expert physicians giving lectures.

Thank you to our sponsors for making this possible.

November 14-16 in Boston, MA.

Objective: Develop the best practice guidelines for the management of upper respiratory and facial manifestations of skeletal dysplasia.

Hosted by:

Samantha Spencer, MD

Pediatric Orthopedic Surgeon

Boston Children’s Hospital

The outcome of this meeting was a publication in Orphanet Journal of Rare Diseases, “Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia”.

November 8-9, 2018 in Melbourne, Australia

Objective: Development of a consensus guideline for the management of the spinal manifestations of skeletal dysplasia

Held at Melbourne Convention and Exhibition Centre.

The outcome of this meeting was a publication in Orphanet Journal of Rare Diseases Best practice guidelines for management of spinal disorders in skeletal dysplasia

Hosted by:

Ravi Savarirayan, M.B.B.S., F.R.A.C.P., H.G.S.A., MD

Clinical Geneticist

Murdoch Children’s Research Institute, Royal Children’s Hospital

Melbourne, Australia

November 3-4, 2017 in Seattle Washington

Objective: Development of a consensus guideline for management of patients with type II collagen disorders

Hosted by:

Klane K. White, MD and Michael J. Goldberg, MD Seattle Children’s Hospital

Held at the Washington Athletic Club

The outcome of this meeting was a publication in Genetics in Medicine. Best Practice Guidelines regarding Diagnosis and Management of patients with type II Collagen disorders. Genetics in Medicine.

November 4-5, 2016 in Montchanin, Delaware

Objective: Development of a consensus guideline for the management of pregnancies involving skeletal dysplasia

Hosted by:

Michael Bober, MD, PhD, and William G. Mackenzie, MD

Nemours/Alfred I. DuPont Hospital for Children

Held at the Montchanin Inn’s Spa

Members of the SDMC invited:

Judy Rossiter, MD

Obstetrics and Gynecology, Maternal & Fetal Medicine/High Risk, Reproductive Genetics/Prenatal Genetics, Chief in the department of Obstetrics and Gynecology

University of Maryland St. Joseph Medical Center

Deborah Krakow, MD

Clinical Genetics, Obstetric and Gynecology, Maternal and Fetal Medicine

Ronald Reagan UCLA Medical Center

The outcome of this meeting was a publication in the American Journal of Obstetrics and Gynecology, titled Best Practice Guidelines regarding Prenatal Evaluation and Delivery of Patients with Skeletal Dysplasia.

November 5-6, 2015 in Seattle, WA

Objective: Development of a consensus paper on the perioperative care of patients with achondroplasia.

Hosted by:

Klane K. White, MD, and Michael J. Goldberg, MD

Seattle Children’s Hospital

Held at: Camp Korey, Carnation, WA

Members of the SDMC invited:

Mary Theroux, MD

Pediatric Anesthesiology

Nemours/Alfred I. DuPont Hospital for Children

Gregory Redding, MD

Pulmonary and Sleep Medicine

Seattle Children’s Hospital

Melita Irving, BSc (Hons), MB BS, MRCPCH

Clinical Genetics

Guy’s and St. Thomas’ Hospital

The outcome of this meeting was a publication in the American Journal of Medical Genetics A, titled Best Practices in Peri-Operative Management of Patients with Skeletal Dysplasias.

October 10-11, 2014 New York City, NY

Objective: Development of a best practices guideline for management of foramen magnum stenosis in achondroplasia during infancy

Hosted by:

Cathleen L. Raggio, MD

Pediatric Orthopedist

Hospital for Special Surgery

Held at: Hospital for Special Surgery

The outcome of this meeting was a publication in the American Journal of Medical Genetics Part A, titled Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

January 31-February 1, 2014

Objective and outcome: Develop the infrastructure for the Skeletal Dysplasia Management Consortium (SDMC).

Hosted by:

Klane K. White, MD, and Michael J. Goldberg, MD

Seattle Children’s Hospital

Held at: Camp Korey, Carnation, WA