There are over 7,000 rare diseases, mostly affecting the nervous system, with 200 new ones identified each year. More than 300 million people worldwide have a rare disease.
A rare disease in the U.S. affects fewer than 200,000 people. Because so few people have each disease, research funding is limited, slowing the discovery of treatments.
At Kennedy Krieger Institute, we work to develop novel and innovative treatments for rare diseases, helping patients live fulfilling lives.
Rare Diseases We Treat
Our providers have experience treating over 450 different rare genetic conditions, including expertise in the conditions below.
- Adrenoleukodystrophy (ALD)
- Alexander disease
- Angelman syndrome
- Ataxia Telangiectasia (AT)
- Batten disease
- Barth syndrome
- CACNA1A
- Canavan disease
- Cerebrotendinous Xanthomatosis
- Congenital Myopathies
- Down syndrome
- Duchenne Muscular Dystrophy
- Dup15q
- Ehlers-Danlos syndromes
- Facioscapulohumeral Muscular Dystrophy
- FMR1 and related conditions
- Fragile X syndrome
- Genetic epilepsies
- Genetic neurodevelopmental disorders
- Hereditary spastic paraplegia
- Hypophosphatasia
- KAT6A/KAT6B syndromes
- Krabbe disease
- Kearns Sayre
- Kleefstra syndrome
- Leukodystrophy
- LBSL
- Limb girdle muscular dystrophy
- LRP5
- Kaubki syndrome
- Mendelian Disorders of Epigenetic Machinery
- MEERF
- MELAS
- Metachromatic leukodystrophy (MLD)
- Mitochondrial disorders
- Muscular dystrophies
- Myotonic muscular dystrophy
- Osteogenesis imperfecta
- PPA2-deficiency
- Pelizaeus-Merzbacher disease
- Rett syndrome and related disorders
- Rubenstein-Taybi syndrome
- Sickle cell anemia
- Sotos syndrome
- Stickler Syndrome
- Sturge-weber syndrome
- Synaptopathies
- Vanishing white matter disease
- Wiedmann-Steiner syndrome
If you or your child has a rare disease that is not listed above, please contact GeneticsClinic@KennedyKrieger.org to inquire if our team has expertise in the condition. We also evaluate patients with undiagnosed rare disorders. Learn more about our rare disease clinics and services here.
Our Team
Kennedy Krieger is home to a unique collaboration of experts in rare diseases from various disciplines. Our clinicians, genetic counselors, research scientists and rehabilitation professionals work together to provide optimal interdisciplinary care for patients.
Centers of Excellence

National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence
Kennedy Krieger Institute has been designated as a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence. The designation recognizes centers that are leaders in the diagnosis and care for people with rare diseases.

Center of Excellence for Batten Disease Treatment and Research
Kennedy Krieger Institute has been named a Center of Excellence by the Batten Disease Support, Research, & Advocacy Foundation, (BDSRA) for its clinical care, support and research of Batten disease. The Institute is one of five centers in the United States to receive this honor.

International Rett Syndrome Foundation Center of Excellence
Kennedy Krieger Institute is one of 15 institutions in the United States that has been designated as a Center of Excellence by the International Rett Syndrome Foundation. This special honor recognizes Kennedy Krieger’s dedication to providing best-in-class clinical care for patients with Rett syndrome, a rare neurological and developmental disorder.