
Understanding, Diagnosing, and Using Genetic Testing for Basan Syndrome
People with this autosomal dominant disorder are born without fingerprints and may also have reduced sweating and dental anomalies, traced to mutations in SMARCAD1.

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.

People with this autosomal dominant disorder are born without fingerprints and may also have reduced sweating and dental anomalies, traced to mutations in SMARCAD1.

Deep skin furrows on the scalp, craniosynostosis and midface hypoplasia mark this congenital disorder, which FGFR2 testing confirms and prenatal sampling can check for.

Recurrent oral and genital ulcers, uveitis and skin lesions underpin the ICBD criteria, while testing for the HLA-B51 allele can add weight in atypical or familial cases.

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Boomerang dysplasia, a rare skeletal disorder, can be diagnosed through prenatal imaging and genetic testing for accurate insights and effective family planning.

Short fingers and toes paired with high blood pressure define BDAH, an autosomal dominant condition linked to phox2b and confirmed through gene testing.

Inward deviation of the big toe alongside shortened digits points to BPHVS, which is assessed with clinical examination, X-rays, family history and DNA testing.