
Decoding the Mystery of Severe Short-Limb Dwarfism: Genetic Testing and Beyond
Discover the importance of genetic testing in diagnosing severe short-limb dwarfism, its various forms, and how it helps provide targeted care and support.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Discover the importance of genetic testing in diagnosing severe short-limb dwarfism, its various forms, and how it helps provide targeted care and support.

Pyriform aperture stenosis, or short nose syndrome, narrows the nasal opening and can obstruct newborn breathing; imaging and genetic testing guide diagnosis.

Levels of sIL-6R, which binds IL-6 and modulates inflammation, have been linked to type 2 diabetes, gout and obesity; the IL6R Asp358Ala polymorphism is one marker.

Upper motor neurons are affected in SPG72, which passes to a child with a 50% chance; exome sequencing, gene panels and single-gene tests can confirm the subtype.

Nasal dryness, allergies or trauma explain many nosebleeds, but spontaneous, recurrent epistaxis can point to hereditary hemorrhagic telangiectasia (HHT).

Discover the role of genetic testing in diagnosing and understanding Sudden Unexplained Death in Childhood (SUDC), helping families identify risk factors and find closure.

Leaking blood vessels under the retina damage the macula and cost central vision; the CFH variant rs10737680 and ARMS2/HTRA1 are tied to nAMD susceptibility.

Patients on tacrolimus for myasthenia gravis, lupus nephritis or rheumatoid arthritis respond differently; genetic variants influence metabolism, dosing and safety.