Cardiomyopathies and channelopathies underlie many cases of sudden cardiac failure in infants; gene testing can flag risk, guide treatment and inform family planning.
A triad of abnormal tall stature, intellectual disability and renal anomalies defines TSIDRAS, often traced to cytogenetic changes seen on karyotype analysis.
Growths in the thyroid range from symptom-free nodules to papillary carcinoma. Testing for BRAF, RET and RAS informs treatment choices and family risk estimates.
Whether missing teeth appear alone or with other ectodermal signs often tracks the gene involved: WNT10A in non-syndromic cases, EDA in hypohidrotic ectodermal dysplasia.
Congenital absence of one or more teeth affects oral health and facial appearance. Identifying WNT10A or EDA variants sharpens the diagnosis and shapes dental treatment.
Low transketolase activity disrupts the pentose phosphate pathway, bringing neurological deficits, lactic acidosis and developmental delays that are often missed.
Hair that cannot be tamed in childhood can have a genetic cause. Whole-exome sequencing pinpoints the UHS2 variant and separates it from other hair disorders.
Identified through a new pathogenic variant seen in two siblings, UHS3 affects hair texture; the page covers early diagnosis, care and genetic counseling.