Clinics, Registries, Professional Networks

Description: Medical clinics and professional organizations specializing in the skeletal dysplasias

Bone Dysplasia Clinic, Riley Children's Hospital
Location: Indianapolis, Indiana 
The Bone Dysplasia Clinic at Riley Hospital for Children accepts both pediatric and adult patients who are referred for evaluation of a possible underlying skeletal dysplasia. Common referrals include short stature, osteopenia and/or multiple fractures, and skeletal abnormalities. Some of the more common conditions evaluated for this clinic include osteogenesis imperfecta, multiple epiphyseal dysplasias, achondroplasia and hypochondroplasia. Genetic counselors, genetics fellows, genetic counseling students, and/or rotating medical students/pediatric residents work closely with the clinical geneticists to determine a differential diagnosis, coordinate genetic testing and provide follow-up recommendations. 

Connective Tissue / Skeletal Dysplasias Clinic at Cincinnati Children's Hospital
Location: Cincinnati, Ohio 
The Connective Tissue / Skeletal Dysplasia Clinic at Cincinnati Children's Hospital Medical Center provides care and therapy for children and adults. Who do we see? Children and adults with osteogenesis imperfecta (a genetic brittle bone condition), hypophosphatasia, juvenile osteoporosis or excessive fractures for unknown reasons Children and adults with short stature who may have a skeletal dysplasia, growth disorder or form of dwarfism. 

European Skeletal Dysplasia Network
Location: Europe 
ESDN comprises 8 partners in 6 European countries and provides an integrated research and diagnostic network for skeletal dysplasias. The objectives of ESDN are two fold: To understand what cellular, molecular and genetic factors cause bone dysplasias and to develop effective approaches for the diagnosis of bone dysplasias. Ultimately this integrated and multidisciplinary approach will promote the correct diagnosis of many skeletal dysplasias. 
Contact information: Dr. Jacky Taylor, ESDN Project Administrator, c/o National Genetics Reference Laboratory (Manchester), Regional Genetics Services, St. Mary's Hospital, Hathersage Road, Manchester, M13 0JH, UK +44 (0) 161 276 3202 (Tel) +44 (0) 161 276 4058 (Fax) [email protected]

International Skeletal Dysplasia Registry
Location: Los Angeles, California 
Established in 1970, the International Skeletal Dysplasia Registry at UCLA is a long-term research project assisting in the diagnosis, management, and etiology of the skeletal dysplasias. We work with families, physicians, and researchers from around the world to classify skeletal disorders radiographically, histologically, and genetically.    
Contact information: International Skeletal Dysplasia Registry, 615 Charles E. Young Drive, South, Suite 410, Los Angeles, CA 90095. Phone: (310) 825-8998. Email: [email protected]

International Skeletal Dysplasia Society
The ISDS Society promotes scientific progress in the field of skeletal dysplasias and dysostoses as well as advances in medical, orthopedic, surgical, and psychological care of individuals affected by skeletal dysplasias and dysostoses.

Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias at Johns Hopkins
Location: Baltimore, Maryland 
The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasia brings together a multi-disciplinary team of doctors and staff dedicated to improving the quality of life for persons with short stature through healthcare, medicine, education, and providing resources for patients and their families. The Greenberg Center is the longest-running clinic for patients with skeletal dysplasia. 
Contact information: Colleen Gioffreda, Program Administrator, at (410) 614-0977

Midwest Regional Bone Dysplasia Clinic
Location: Madison, Wisconsin; satellite clinic in Middleton, WI 
We specialize in diagnosing and managing a wide range of skeletal disorders, including bone dysplasias, metabolic bone abnormalities and structural abnormalities. With access to experts in many specialties, we diagnose, manage and coordinate care for children and adults for conditions such as achondroplasia, pseudoachondroplasia, spondyloepiphyseal dysplasia and Morquio syndrome. 
Contact Information: Midwest Regional Bone Dysplasia Clinic, Clinical Genetics Center, University of Wisconsin-Madison, 1500 Highland Ave., Madison, WI 53705. Phone: (608) 262-6228. E-mail: [email protected] 

Nemours Children's Hospital/Alfred I. duPont Institute
Location: Wilmington, Delaware 
Nemours Children's is world-renowned for the diagnosis and treatment of all types of skeletal dysplasia — even the rarest forms. We work as a team to maximize children’s function, correct limb differences, manage medical issues and prevent future complications. Skeletal dysplasia services provided in Genetics and Orthopedics by members of the LPA Medical Advisory Board. 
Contact information: (302) 651-4880

Northern California Skeletal Dysplasia Clinic
Location: Oakland, California 
The Northern California Skeletal Dysplasia Clinic provides a forum for diagnosis, prevention, and the treatment of skeletal dysplasias throughout the lifespan. The Skeletal Dysplasia Clinic (SDC) offers patients a unique opportunity to have all their medical needs assessed together, as a whole, by a wide variety of specialists. The clinic is a collaboration between the two hospitals/health systems -- Kaiser Permanente Northern California and Children's Hospital and Research Center at Oakland. The only clinic in Northern California, to offer comprehensive, coordinated medical care for people with skeletal dysplasias. 
Contact information: 
Kaiser Permanente: Ericka Okenfuss, MS; Skeletal Dysplasia Clinic; Kaiser Permanente Genetics; 280 W. MacArthur Blvd.; Oakland, CA 94611; Phone: (510) 752-6839. 
Children's Hospital Oakland: Emily Rettner, MS Genetics Dept., Children's Hospital and Research Center at Oakland; 747 52nd St., Oakland, CA 94609; Phone: (510) 428-3550 x2351

Seattle Children's Skeletal Health Program
Location: Seattle, Washington 
Seattle Children's Skeletal Health Program provides comprehensive care for babies, children, teens and some adults who have Skeletal Dysplasias or metabolic bone diseases. Our team of experts diagnoses and treats skeletal conditions, caring for patients over many years as they grow and their needs change.  
Contact information: 4800 Sand Point Way NE, Seattle, WA 98105. Phone: (206) 987-2109.

Skeletal Dysplasia Center at Akron Children's
Location: Akron, Ohio 
One of only a few skeletal dysplasia clinics that treats both children and adults. The team of physicians and specialists at the center comes from a variety of health care areas and provides diagnostic and therapeutic services that include: Genetic counseling, Pediatric anesthesia, Pediatric and adult spine surgery, Ear, nose and throat medical & surgical care, Pediatric and adult neurology/neurosurgery, Medical and surgical care of the eyes, Urology, Cardiology, Endocrinology, Hand surgery, Nephrology, Joint surgery, Pulmonary care, Gastroenterology, Physical Therapy, Occupational Therapy, Speech and Hearing, Social Services, Dietary Services, Orthotics (bracing). 
Contact information: (330) 543-4030

Skeletal Dysplasia Clinic at Hospital for Sick Kids
Location: Toronto, Canada 
The role of the Division of Clinical and Metabolic Genetics at SickKids is to develop and maintain facilities, services and personnel for the diagnosis, management and genetic counselling of individuals/families affected with or at risk for the development of genetic disorders. While most families referred for genetic services will come from southern Ontario, particularly the Greater Toronto Area, the division also accepts referrals from other Canadian and international centres. Skeletal dysplasia is one of the subspecialty clinics run by the Clinical & Metabolic Genetics Program.

Skeletal Dysplasia Clinic at Children's National
Location: Washington, DC 
Skeletal dysplasia clinic is a multi-specialty clinic providing the combined expertise of the Divisions of Genetics & Metabolism, Orthopedics and Physical Medicine and Rehabilitation with consultations from the Division of Dentistry if clinically indicated. 
Contact information: Children's National Medical Center 111 Michigan Avenue, NW, Washington, DC 20010. Phone: (202) 476-2187.

Skeletal Dysplasia Clinic at Cedars-Sinai
Location: Los Angeles, California 
At Cedars‑Sinai, we see patients with skeletal dysplasia from prenatal genetic diagnosis seamlessly through every life stage and transition. Renowned adult and pediatric experts in the bone growth disorder tailor state-of-the-art treatment and surgery for all ages and statures. Our orthopedics experts collaborate with a team of endocrinologists, ear, nose and throat specialists, neurosurgeons, neurologists and geneticists to care for patients of all ages.  
Contact information: Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd., North Tower, Fourth Floor, Los Angeles, CA 90048. Phone: (310) 423-6665.

Texas Children's Hospital/Baylor University Skeletal Dysplasia Center
Location: Houston, Texas 
This genetics clinic provides diagnosis, treatment and follow-up care for patients from birth to adulthood with abnormalities of skeletal growth and strength. A staff of geneticists with consulting orthopedists, endocrinologists, neurologists and ophthalmologists evaluate patients during their visits for routine, chronic or acute care. Patients are seen by either self-referral or physician referral. 
Contact information: Phone: (832) 822-2100

The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias - Hospital for Special Surgery - New York
Location: New York City, New York 
The only one of its kind in the Northeast, HSS's Center for Skeletal Dysplasias is dedicated to the comprehensive medical care of individuals with skeletal dysplasia, an umbrella term for a group of more than 100 genetic conditions marked by abnormal bone growth. Multispecialty team offers Genetic Evaluation, Diagnosis and Counseling; Orthopedic Screening and Treatment; Psychosocial Assessment 
Contact Information: Mailing address: Center for Skeletal Dysplasias, Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021 Phone: (212) 774.7332

The Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute
Location: Baltimore, Maryland 
The Osteogenesis Imperfecta (OI) Clinic at Kennedy Krieger Institute is dedicated to caring for and improving the lives of children and adults with OI. Our interdisciplinary team of medical professionals work together to evaluate and address our patients' needs. Osteogenesis Imperfecta can vary dramatically in severity, so our model emphasizes developing unique therapy regimes tailored to each patient.