What Causes Congenital Macrodactylia? Genes and Growth
Overgrowth of bone, skin and fat makes one or more fingers or toes abnormally large at birth. Beyond examination and imaging, DNA analysis looks for mutations.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Congenital Myotonia: CLCN1 and Dominant Inheritance
Slow relaxation after a muscle contraction is the hallmark, traced to the CLCN1 chloride channel. One mutated copy causes the dominant form, which testing can confirm.
Cowden Syndrome 1: A Genetic Odyssey in Early Diagnosis and Management
Hamartomas, trichilemmomas and macrocephaly point to CS1, part of PTEN Hamartoma Tumor Syndrome, with screening for breast, thyroid and endometrial cancer.
Coxopodopatellar Syndrome: Hip, Knee and Foot Signs
Hip dysplasia, absent or underdeveloped kneecaps and foot deformities form the CPS triad; WNT signaling changes are implicated and testing supports diagnosis.
Decoding Dilated Cardiomyopathy 1M: The Role of Genetic Testing
A desmoplakin mutation has been tied to both palmoplantar keratoderma and DCM 1M, so people with PPK may face a raised risk of this heart muscle condition.
Decoding Distichiasis-Lymphedema Syndrome: The Role of Genetic Testing in Diagnosis and Management
An extra row of eyelashes plus limb swelling that often starts at puberty or in pregnancy follows FOXC2 mutations, inherited in an autosomal dominant pattern.
Facilitating Diagnosis: Genetic Testing for Facioscapulohumeral Muscular Dystrophy 2
Progressive weakness of the face, shoulder and upper arm muscles marks FSHD2, which stems from SMCHD1 mutations and the DNA hypomethylation that testing can measure.
Familial Congenital Nasolacrimal Duct Obstruction: The Promise of Genetic Testing
Persistent tearing and repeated eye infections in a child can signal a tear duct blocked since birth, a familial condition that genetic testing may help identify.