
Cracking the Code: Understanding Carpal Osteolysis through Genetic Testing
Progressive destruction of the carpal bones brings pain, stiffness and loss of wrist function. Tarsal involvement points to MCTO syndrome, which can affect the kidneys.

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.

Progressive destruction of the carpal bones brings pain, stiffness and loss of wrist function. Tarsal involvement points to MCTO syndrome, which can affect the kidneys.

High serum ferritin with early bilateral lens clouding points to HHCS, an autosomal dominant condition traced to FTL mutations such as a C39>G change in one child.

Present at birth or within the first years of life, Cataract 36 affects the sutural and lamellar lens regions and involves CRYBA2 and LIM2, with a 50% risk to each child.

Research points to Epha2 genotype, Arvcf-dependent adherens junctions and gut bacteria in cortical lens clouding; serum vitamin D showed an inverse association in women.

Central core disease is usually inherited in a dominant pattern, but a severe recessive variant has been reported; diagnostic, carrier and prenatal testing are explained.

Fluid-filled sacs in the cerebellum can bring ataxia, balance trouble, headaches and abnormal eye movements; MRI and prenatal ultrasound show them before testing.

Underdevelopment of the cerebellar vermis appears with Joubert Syndrome, Opitz Syndrome and CDG I; exome sequencing, gene panels and microarray look for the cause.

Faulty ion channels disrupt sodium, potassium and calcium flow, affecting the pancreas, heart and hormonal glands; NGS panels and exome analysis can identify variants.