Narrowing of the first part of the small intestine causes vomiting, abdominal distention and failure to thrive in newborns; imaging and CNV analysis clarify the cause.
Overshooting or undershooting a target reflects cerebellar dysfunction; neurological exams, MRI, and ITPR1 and SCA6 findings are described alongside therapy options.
Malformation of the structure joining the brain's hemispheres can bring developmental delay and seizures; MRI plus variants such as SLC1A4 point to the cause.
Painful nodules or plaques form where eccrine sweat glands and blood vessels proliferate; skin biopsy confirms it, and excision is used for troublesome lesions.
Discover the role of genetic testing in diagnosing ectrodactyly, a rare congenital disorder, and how it aids in personalized treatment and family planning decisions.
Faulty spectrin proteins leave red blood cells misshapen and stiff, which can bring anemia, jaundice and an enlarged spleen; carrier and prenatal testing exist.
Abnormal vaginal bleeding and pelvic pain can point to EEA-SD, a rare endometrial cancer; biopsy diagnosis, Lynch syndrome testing and treatment planning are covered.
A JAK2 mutation drives red blood cell overproduction; DNA testing confirms the subtype, tracks response to treatment and flags relatives who may share the risk.