Skeletal Dysplasia

Why Choose UCLA Health for Skeletal Dysplasia Care?

At UCLA Health, we proudly provide full-spectrum care for skeletal dysplasia, from prenatal management to adult treatment, in a compassionate, patient-friendly environment. Highlights of our program include:

Recognized expertise: Our team has years of experience diagnosing and managing all types of skeletal dysplasia. As leaders in skeletal dysplasia care and research, UCLA Health is home to the International Skeletal Dysplasia Registry (ISDR). The ISDR is the most comprehensive registry of skeletal dysplasias worldwide.
Streamlined visits: Our comprehensive Skeletal Dysplasia Clinic brings multiple specialists together in one convenient setting. You have access to expert orthopaedic surgeons, endocrinologists and geneticists(Link is external).
Collaborative care: We work with many specialty areas, including otolaryngology (head and neck surgery), neurology, neurosurgery, pulmonology, cardiology, ophthalmology, physical therapy, audiology and pediatric nephrology. Thanks to the vast resources available at UCLA Health, we can refer you to various specialists to ensure you receive the care you need.
Coordinated treatments: Some families get a diagnosis of skeletal dysplasia before a baby is born. In these cases, we work closely with our maternal-fetal medicine team to ensure a smooth transition to our clinic after your baby is born.
Lifetime care: We offer dedicated care to children and young adults under 21 at the UCLA Health-affiliated Luskin Orthopaedic Institute for Children in Los Angeles. At our UCLA Santa Monica Medical Center, we evaluate and treat patients of all ages. Whether you are seeking care for your child or yourself, our experts can help.
Research and clinical trials: Our team studies new advances in care for skeletal dysplasia, bringing your family the latest and best treatments. Eligible patients have access to promising new therapies through clinical trials.

Our Areas of Care

Our team of experts in skeletal dysplasia specializes in finding the right care plan for you. Our core team includes:

Genetics

Our geneticists use advanced technology to find the exact gene change (mutation) that causes dysplasia. This information helps us determine the most effective care plan for you. Geneticists also counsel your family to help you understand what a genetic mutation means and how it may affect your family.

Orthopaedic surgery

People with skeletal dysplasia may have cartilage or bone deformities that make it hard to walk or cause other problems. Orthopaedic surgeons help determine if surgery is the right treatment for you or your child. They monitor a child’s skeletal growth to plan surgery for the most appropriate time.

Endocrinology

Endocrinologists assess patients’ bone health and metabolism. They may prescribe medications and recommend other treatments to improve bone strength and quality.

What Are Skeletal Dysplasias?

Skeletal dysplasias are genetic disorders that affect bones or cartilage. They are rare, affecting up to one in 5,000 people.

Experts have identified more than 700 types of skeletal dysplasias. Skeletal dysplasia can cause a variety of symptoms and affect multiple parts of your body, including your bones, hearing, breathing, vision and heart.

Types of Skeletal Dysplasia We Treat

Our specialists treat a wide range of skeletal dysplasias, including:

Achondroplasia: Achondroplasia is the most common form of short-limbed dwarfism. It typically causes short limbs and an enlarged head.
Campomelic dysplasia: Campomelic dysplasia is one of the rarer forms of short-limbed dwarfism. It typically causes bends in long bones and breathing difficulties.
Diastrophic dysplasia: This condition causes small stature and may affect the face, ears, hands, feet or spine.
Fibrodysplasia ossificans progressiva: Bone gradually replaces muscle and connective tissue, which can cause difficulty moving.
Fibrous dysplasia: A fibrous, scar-like tissue replaces normal bone, leading to bone weakness.
Hypochondroplasia: This form of short-limbed dwarfism affects the process of cartilage converting to bone. It usually affects the long bones of the legs and arms.
Hypophosphatasia: This condition affects the development (mineralization) of your teeth and bones.
Metaphyseal chondrodysplasia: This condition causes irregularly small stature, short limbs and bowed legs.
Multiple epiphyseal dysplasia (MED): This condition affects the ends of the long bones in the limbs (epiphysis).
Osteogenesis imperfecta: This condition causes fragile bones that break easily. It is also known as brittle bone disease.
Pseudoachondroplasia: This very rare form of dwarfism causes short stature with a typical head size. People also develop arthritis at young ages.
Spondyloepiphyseal dysplasia congenita (SEDc): This type of dwarfism causes short stature and bone problems. It often also causes hearing and vision problems.

Skeletal Dysplasia Treatments We Offer

Skeletal dysplasia treatment varies depending on your needs. We monitor each patient closely to determine appropriate treatments at the right time. Our experts provide comprehensive care plans to help you live the highest quality of life possible.

Nonsurgical treatments

Your care team may recommend nonsurgical treatments such as:

Bracing: A custom brace can help improve posture or bowed legs.
Dental treatments: We may offer invisible aligners (Invisalign®) for people with tooth problems.
Medications: Our specialists in skeletal dysplasia may prescribe medicines that affect or change bone growth.
Physical therapy: Physical therapists offer exercises that help increase muscle strength, range of motion and mobility.
Sleep devices: Some people with skeletal dysplasia have sleep apnea. We offer sleep studies to accurately diagnose the condition. Some patients may use a continuous positive airway pressure (CPAP) machine to keep airways open during sleep.

Surgical treatments

In some cases, patients benefit from surgery, including:

Ear, nose and throat surgery: Head and neck surgeons treat problems like hearing loss or sleep apnea. They may remove tonsils or adenoids (glands located behind the nose) or place ear tubes.
Neurosurgery: Neurosurgeons may offer procedures to correct brain or spine problems associated with skeletal dysplasia. They may operate to reduce pressure on the brain and spinal cord or remove excess fluid from around the brain.
Orthopaedic surgery: Orthopaedic surgeons may offer procedures to lengthen limbs, correct bone shape or alter bone growth. They monitor children to plan these interventions at the most appropriate time based on their growth.

Meet Our Team

Trust our team of experts to provide exceptional skeletal dysplasia care. Our skeletal dysplasia specialists have years of experience, offering targeted, effective options. We are also physician-researchers who continually bring you the latest treatments through clinical trials.