Understanding Skeletal Dysplasia
Learn about the different forms of skeletal dysplasia, its impact on children and adults, and how Little Legs Big Heart provides support and resources for affected families.
FAQs
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Skeletal Dysplasia refers to a diverse group of genetic disorders commonly known as dwarfism, affecting the development of bones and cartilage and leading to abnormalities in the size and shape of the skeleton. These conditions vary widely in severity and symptoms but often result in shorter stature, impacting mobility and overall health. There are over 400 different types of skeletal dysplasia, each driven by its own genetic mutation. Achondroplasia, the most common form, accounts for about 70% of all cases of dwarfism.
The roots of skeletal dysplasia lie in specific genetic mutations that affect bone and cartilage development. These mutations can be inherited or occur spontaneously. Diagnosis usually takes place in infancy or early childhood through physical traits and X-ray scans, with genetic testing providing precise classification. Understanding and managing these conditions require a comprehensive approach to ensure the best quality of life for those affected.
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There are over 400 types of skeletal dysplasia, each with its own unique characteristics. Some of the more common types include achondroplasia, osteogenesis imperfecta, and hypochondroplasia. While each type presents its own set of challenges, early diagnosis and intervention can greatly improve quality of life.
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Living with skeletal dysplasia often brings various health challenges that vary depending on the specific type. Common signs include short stature, disproportionate limb size, curvature of the spine, joint abnormalities, and breathing difficulties.
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Achondroplasia
Hypochondroplasia
Pseudoachondroplasia
Diastrophic Dysplasia
Cartilage Hair Hypoplasia
Spondyloepiphyseal Dysplasia
Morquio Syndrome
Osteogenesis Imperfecta
Multiple Epiphyseal Dysplasia
Campomelic Dysplasia
Thanatophoric Dysplasia
Ellis-Van Creveld Syndrome
Kniest Dysplasia
Metatropic Dysplasia
& Hundreds More!
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Our position statements on Pharmaceuticals and Limb Lengthening:
There are various management and treatment options to increase an individual’s quality of life and functionality; physical therapy, orthopedic surgeries, and assistive devices – whatever it takes to put one foot (or wheel!) in front of the other.
The Little Legs Big Heart Foundation is committed to offering comprehensive information, including “controversial” management options like limb lengthening, the FDA approved pharmaceutical treatment VOXZOGO, emerging drug therapy trials and research. It is important to note that management suggestions for one form of skeletal dysplasia may not be appropriate for other skeletal dysplasia diagnoses because each type has its own natural history, complications, and specific recommendations.
Emotional Support Network – Coming Soon!
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Medical Specialist Directory – Coming Soon!
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Educational Resources
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Annual Conference
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Community Events
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The Little Legs Lifeline Fund
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Emotional Support Network – Coming Soon! 〰️ Medical Specialist Directory – Coming Soon! 〰️ Educational Resources 〰️ Annual Conference 〰️ Community Events 〰️ The Little Legs Lifeline Fund 〰️
Living with Skeletal Dysplasia
Most individuals with skeletal dysplasia lead fulfilling lives with proper medical care and support, often enjoying a normal lifespan. Regular medical monitoring, in childhood as well as adulthood, is vital to address the potential health issues. Moreover, we emphasize the importance of using respectful terminology when referring to individuals with skeletal dysplasia, promoting inclusivity and respect for diversity. Many individuals prefer “little person,” “LP,” “dwarf,” or simply as a person living with their particular form of skeletal dysplasia.
Society has evolved to become more inclusive and accommodating, with legislation and policies ensuring equal access to education, employment, and public spaces. Awareness campaigns and educational initiatives work tirelessly to reduce stigma and discrimination related to dwarfism, within society, the media, the fashion industry, etc., fostering a more inclusive and understanding world.
Progress in these areas takes time. The mental and emotional impact of living with dwarfism extends beyond the individual to the entire family. Families often face unique challenges, including navigating medical decisions, advocating for accommodations, and confronting societal attitudes. Support systems, including counseling and community networks, play a crucial role in helping both individuals and their families cope with these stresses and build resilience.
Limb Lengthening & Pharmaceutical Therapies
The Little Legs Big Heart Foundation advocates for informed, individualized decision-making regarding Extended Limb Lengthening, VOXZOGO, and other emerging drug therapies. We support access to all options, empowering individuals and families to choose the best path for their unique circumstances in consultation with their medical teams. We believe in including the child in the choice and our commitment is to provide comprehensive information, community connections and support to ensure the best quality of life, happiness and well-being for everyBODY in our skeletal dysplasia community.
Become a member to Access all of our Little Legs Big Heart Resources for free, forever! Growth Charts, Medical Management, Medical Advisory Board, Genetic Testing & more.
Our Providers
Dr. Minas
Dr. Tom Minas is a world-renowned orthopedic surgeon and the Director of the Cartilage Repair Center at the Paley Orthopedic & Spine Institute in West Palm Beach, FL. Since joining the Paley Institute in 2018, Dr. Minas has brought his extensive expertise to the treatment of patients with skeletal dysplasia, including conditions such as achondroplasia, cartilage-hair hypoplasia (CHH), arthrogryposis, congenital femoral deficiency (CFD) and other rare genetic disorders affecting bone and cartilage development. With a patient-centered approach, he has successfully managed complex orthopedic challenges in this patient population, improving mobility and quality of life for both adults and children.
Dr. Minas specializes in knee and hip replacements and osteotomies, with a focus on custom-designed joint replacements tailored to the unique anatomy of patients with skeletal dysplasia. A Professor Emeritus of Orthopedic Surgery at Harvard Medical School, where he practiced for 30 years, Dr. Minas is also a pioneer in cartilage repair, having introduced autologous chondrocyte implantation (ACI) to the US and performed the most cartilage transplants worldwide. His dedication to joint preservation and reconstruction makes him a leader in treating skeletal dysplasia.
Dr. Barnhill
Dr. Spencer Barnhill is an Orthopaedic Surgeon at the Paley Institute with a focused interest in the comprehensive care of hip and knee pathology in patients with skeletal dysplasia. As a young and forward thinking physician, Dr. Barnhill trained under leaders in the field both at Harvard Brigham and Women's Hospital and the Paley Institute, gaining hands-on experience with both surgical and non-surgical management strategies tailored to complex skeletal growth disorders.
His approach emphasizes multidisciplinary collaboration, individualized treatment planning, operative care strategies that support function, growth and quality of life. Dr. Barnhill is committed to advancing care through research, patient education and innovation rooted in evidence-based practices.
Dr. Stadler
Dr. Andy Stadler is a pediatric neurosurgeon at UW Health Kids and associate professor at the University of Wisconsin School of Medicine and Public Health. He specializes in complex and congenital spine conditions including achondroplasia and other forms of skeletal dysplasia. Dr. Stadler is committed to using the least invasive, most advanced surgical techniques to enhance function and quality of life for children and young adults. In addition to his clinical work, he actively researches spinal development and long-term surgical outcomes to improve care and recovery for future patients.
Bri Beck
Bri Beck (she/her) is an artist, licensed clinical professional counselor, and registered art therapist living in Chicago, IL whose interdisciplinary practice centers disability culture and identity. Working at the intersection of art, mental health, and activism, Bri brings a lived experience lens to her work, drawing from her life as a woman with pseudoachondroplasia and long-standing engagement with cross-disability communities.
Her visual art practice explores themes of embodiment, vulnerability, and interdependence, often using mixed media and narrative forms to express the complexities of trauma, healing, and access. She maintains a solo therapy practice grounded in trauma-informed, relational, and disability-affirming care, where she works primarily with disabled, chronically ill, and neurodivergent adults on themes of identity, grief, self-esteem, navigating relationships, self-advocacy, emotional resilience, and more. Her clinical work emphasizes identity development, emotional resilience, and the power of creativity in healing.
In addition to her therapeutic and artistic work, Bri is an adjunct professor of disability studies at the School of the Art Institute of Chicago and is an active consultant and trainer, partnering with healthcare systems, nonprofits, and educational institutions to reimagine access, inclusion, and care through a disability-affirming lens. Her consulting practice serves as a bridge between academic disability studies and mainstream systems by translating critical concepts into accessible, actionable practices.
LCPC, ATR
Dr. Arun Hariharan is a pediatric orthopedic and spine surgeon at the Paley Orthopedic & Spine Institute, where he specializes in treating complex spinal deformities, including those found in skeletal dysplasia. Dr. Hariharan is actively involved in research focused on improving outcomes for children with rare skeletal conditions.
He is a committed member of the Scoliosis Research Society (SRS) and the Pediatric Orthopaedic Society of North America (POSNA), where he contributes to advancing the field through research, education, and patient advocacy. Dr. Hariharan’s work with skeletal dysplasia patients extends beyond the clinic, as he regularly participates in conferences and outreach initiatives to support this unique patient population.
In his free time, Dr. Hariharan enjoys spending time with his family and cheering on his beloved Michigan Wolverines.
Dr. Hariharan
Dr. Huser
Dr. Aaron Huser is a limb deformity and limb lengthening surgeon at Washington University in St. Louis. MO. He specializes in skeletal dysplasias: achondroplasia, pseudoachondroplasia, diastrophic dysplasia, hypochondroplasia, type II collagenopathies, etc. Dr. Huser’s focus is on the upper and lower extremities – correcting bowed/angled bones and limb lengthening to improve function. He is well versed in the latest techniques and advances in the limb deformity/limb lengthening field. His goal is to improve the quality of life and function of all his patients. He has published and presented on the use of medicines to improve linear growth and limb lengthening in achondroplasia.
Dr. Arnold
Dr. Jennifer Arnold is a pediatrician, neonatologist, and expert in healthcare simulation at Boston Children’s Hospital. Her unique perspective on medicine has been shaped by the various ways she has engaged with the field: as a pediatric and adult patient with skeletal dysplasia, cancer survivor, mother, and doctor.
A native of St. Petersburg, FL, Arnold received her undergraduate degrees in biology and psychology from the University of Miami. She completed her medical degree at Johns Hopkins School of Medicine in 2000 and attended a pediatric residency program at the University of Pittsburgh School of Medicine and the Children’s Hospital of Pittsburgh in 2003. Arnold was a National Institutes of Health postdoctoral scholar at the University of Pittsburgh’s Safar Center for Resuscitative Medicine from 2006 to 2007. During her fellowship in neonatology at the University of Pittsburgh Medical Center and Magee-Women's Hospital, she also pursued a Master of Science in medical education, graduating in 2009.
A founding director of the simulation centers at both Texas Children’s Hospital and Johns Hopkins All Children’s Hospital, Dr. Arnold has a passion for innovating the application of healthcare simulation as a patient safety tool. She is currently the executive director for the Immersive Design Systems at Boston Children’s Hospital, the primary pediatric teaching hospital for Harvard Medical School. She is also an attending physician in the Bone Health Center and Newborn Medicine Division at Boston Children’s Hospital. She is the host of Boston Children’s Hospital’s Answers Parentcast, a podcast focused on helping parents raise healthy and happy kids.
Dr. Arnold is an internationally known speaker, published NYT best-selling author (Life is Short, No Pun Intended and Think Big), and recipient of awards for innovation in medical education and patient-care. She has spoken both nationally and internationally on healthcare simulation and has made inspirational speeches on overcoming obstacles as an individual with a disability.
Dr. Arnold’s passion is to advocate for pediatric healthcare and raising awareness for individuals with disabilities. It is this passion that led her to a career in medicine and to focus her media efforts in this effort. Dr. Arnold has a rare type of dwarfism called Spondyloepiphyseal Dysplasia Type Strudwick (which involved more than 30 orthopedic surgeries). She is a 10-year cancer survivor. Not only does she have a disability and has personally overcome extraordinary physical and health obstacles, but she is the mother of two kids with medical complexities, both with skeletal dysplasia. With her husband, Bill Klein, and their two children, they were featured from 2009 to 2019 on TLC’s docuseries “The Little Couple,” an unscripted program that provided a window into the family’s personal and professional lives. The show’s popularity helped to break down barriers and educate viewers about people with disabilities.
Catherine Gooch, MD, FACMG
Medical Director, Skeletal Dysplasia Clinic
Assistant Professor of Pediatrics
Division of Genetics and Genomic Medicine
Washington University in St Louis
Dr. Catherine Gooch developed a strong interest in skeletal genetics during the final years of her residency, where she led the creation of a hospital policy for managing neonates with achondroplasia. In 2020, she joined Washington University with the goal of launching a skeletal dysplasia clinic, which officially opened in 2021. Dr. Gooch now proudly serves as the clinic’s medical director. Under her leadership, the clinic has grown to serve hundreds of patients with a wide range of genetic bone conditions.
She remains actively involved in the Little People community and frequently presents and provides care at Little People of America (LPA) regional and national conferences. Dr. Gooch also serves as the co-chair for epidemiology within the International Skeletal Dysplasia Society. In addition to her clinical work, she is engaged in several clinical trials focused on genetic skeletal disorders, and her clinic is actively contributing to ongoing clinical research in the field.
Recent publications:
Dr. Janet Legare
Dr. Janet Legare is a recognized expert in the diagnosis and management of skeletal dysplasias, with a focus on achondroplasia. She serves as director of the Midwest Regional Bone Dysplasia Clinic at the University of Wisconsin–Madison. Dr. Legare actively engages with various professional societies, including the American Academy of Pediatrics, Society for Pediatric Research, American College of Medical Genetics, Little Legs Big Heart Foundation and Little People of America. She is also actively involved in the International Skeletal Dysplasia Society.
Dr. Legare’s research focuses on pediatric conditions, particularly achondroplasia and skeletal dysplasia. Her research aims to elucidate the natural history of these conditions, assess treatment options, and enhance patient care. and she serves as a site principal investigator for multiple clinical trials, for achondroplasia including multicenter observational studies and clinical trials sponsored by organizations such as Ascendis Pharma and BridgeBio Pharma.
Dr. Legare is also a dedicated advocate for inclusion and diversity in healthcare.
Dr. David Feldman
MD
Pediatric Orthopedic Surgeon Specializing in Spinal Deformity and Hip Pain
Associate Director Paley Orthopedic and Spine Institute
West Palm Beach, FL
Dr. David Feldman is an internationally renowned Orthopedic Surgeon, who for over two decades has been at the forefront in the treatment of complex orthopedic conditions including skeletal dysplasias. After over twenty years at New York University, as Professor of Pediatric Orthopedics and Chief of Pediatric Orthopedic Surgery, Dr. Feldman is currently the Associate Director and leads the Spinal Deformity and Hip Preservation Centers at the Paley Orthopedic and Spine Institute in West Palm Beach, Florida.
Dr. Feldman has been treating individuals with skeletal dysplasia for over 20 years. His approach to caring for the patient involves early interventions that have a positive impact on the skeletal dysplastic individual’s life forever. Dr. Feldman is in the forefront of treating spinal stenosis, the most common complaint and reason for disability in individuals with achondroplasia and other skeletal dysplasias. He also offers deformity correction and extensive limb lengthening as treatment options, allowing restoration of motion and function as well as relief from pain in this patient population.
Dr. Feldman began prescribing oral BioMarin’s FDA approved drug therapy, VOXZOGO, when it was approved by the FDA to improve patient outcomes and is hopeful about the current research being done.
Dr. Feldman welcomes patients of any age with skeletal dysplasia, seeking relief from pain and an improved quality of life, to his practice in West Palm Beach, Florida. Dr. Feldman can also schedule appointments at any of his other locations during work travels, including New York City, Warsaw, Poland, Abu Dhabi and Israel.
Michael D. Puricelli, MD, FACS, FAAP
Pediatric Otolaryngology Head and Neck Surgery
Director of Comprehensive Otology and Hearing Program
Children’s Mercy Kansas City, MO
As a dual fellowship-trained and dual board-certified otolaryngologist head and neck surgeon, I treat the spectrum of ENT pathologies, spanning the most common to the most complex problems facing pediatric patients. With fellowships in Complex Pediatric Otolaryngology and Otology/Neurotology, I have particular expertise at the intersection of advanced otologic disease and complex pediatric patients as well as advanced airway interventions. My complex pediatric otology experience includes chronic otitis media/cholesteatoma in patients with craniofacial changes, congenital hearing loss/cochlear implantation in altered anatomy (cochleovestibular anomalies), acquired hearing loss (stapedotomy, ossiculoplasty, and cochlear implantation in fibrosis/early ossification), extended approaches for acute mastoiditis, subtotal petrousectomy, and osseointegrated implants.
I was a visiting professor to the Children's Hospital in Bydgoszcz, Poland, and collaborate with researchers around the US, Poland and Serbia. As an airway surgeon, I led the first international consensus statement on perinatal airway obstruction (27 contributors, 8 countries), and am a PI in a multi-investigator, 50+ center prospective study linking prenatal, perinatal, and postnatal data to improve prediction.
For people with skeletal dysplasia, I volunteered at multiple regional meetings for the Little People of America and collaborate with experts in the region to provide interdisciplinary care. I have experience performing otologic, airway, and advanced sleep operations for people with skeletal dysplasia, including the use of intraoperative neural monitoring among individuals with concern for cervical spine instability.
I clinically instruct medical students, residents and fellows at Children's Mercy Kansas City, the University of Missouri-Kansas City, and The University of Kansas. I sponsored 6 Shapiro medical student research fellows (4 supported by NIH T32 grants). My mentees have been highly successful and one earned the nationally-competitive Dr. David Kearney McDonogh Award.
Nadia Merchant, MD, FAAP, FACMG
Assistant Professor of Pediatrics
Pediatric Endocrinologist and Geneticist
Children’s Health in Dallas, TX
UT Southwestern in Dallas, TX
Dr. Nadia Merchant is triple boarded in pediatrics, pediatric endocrinology and medical genetics at UT Southwestern/Children's Health/Texas Scottish Rite in Dallas, Texas. She joined UT Southwestern in February 2024 to build a skeletal dysplasia clinic with the goal of improving care for children in North Texas. Prior to that she was at Children's National in Washington, DC for almost five years.
She earned her medical degree from Weill Cornell Medical College in Qatar, pediatric residency at Dayton Children's/Wright State University, genetics residency and pediatric endocrine fellowship at Texas Children's Hospital/Baylor College of Medicine.
Her clinical and research interests include bone health, skeletal dysplasia, genetic growth disorders, endocrinopathies in neuromuscular disorders, the intersection of genetics and endocrinology. She is passionate about maximizing a patient's potential and moving the dial of care. Nadia has been involved in clinical trials for skeletal disorders and recently part of the international consensus guidelines for achondroplasia management.
Dr. Kaveh Asadi
MD, PhD, FAANS
Pediatric Neurosurgeon
Paley Orthopedic and Spine Institute
West Palm Beach, FL
Dr. Kaveh Asadi is a dedicated pediatric neurosurgeon with a special focus on treating children with skeletal dysplasia. After completing medical school in Germany, he pursued neurosurgical training at The Ohio State University. Following this, Dr. Asadi further specialized by completing a fellowship at Cincinnati Children's Hospital, one of the leading pediatric institutions in the country. With a deep commitment to improving the lives of children with complex neurological issues, particularly those associated with skeletal dysplasia, Dr. Asadi is dedicated to providing compassionate, cutting-edge care to young patients and their families.
Klane K. White, MD, MSc
Chair, Department of Pediatric Orthopedics
The Rose Brown Endowed Chair of Pediatric Orthopedic Surgery
Children’s Hospital Colorado
Professor, Orthopedics | Pediatrics – Genetics & Metabolism
Vice Chair, Department of Orthopedics
University of Colorado School of Medicine
Klane K. White, MD, MSc is Chair of the Department of Pediatric Orthopedics and the Rose Brown Endowed Chair of Pediatric Orthopedic Surgery at Children’s Hospital Colorado. He is Professor of Orthopedics and Vice Chair in the Department of Orthopedics at the University of Colorado School of Medicine, where he is also Professor of Genetics and Metabolism in the Department of Pediatrics.
Dr. White is a graduate of the University of Southern California where he earned his bachelor and master’s degrees in Biology and Biological Oceanography, respectively. He received his Doctor of Medicine from the George Washington University in Washington, DC. Dr. White completed his surgical internship and orthopedic surgery residency at the University of California San Diego, as well as a two-year NIH sponsored fellowship in orthopedic research. He received advanced fellowship training in pediatric orthopedics and scoliosis at Texas Scottish Rite Hospital for Children.
