Premature fusion of cranial sutures from TWIST1 mutations can occur alone or as Saethre-Chotzen syndrome. Clinical signs, CT imaging and surgical planning are described.
Autoimmune destruction of pancreatic beta cells drives T1DM2, with HLA region genes raising risk. Blood glucose, HbA1c and autoantibody tests are explained.
Hearing loss in one ear, also called single-sided deafness, is assessed by audiometry and imaging; GJB2 and SLC26A4 testing can explain an unclear cause.
Eye, facial and cognitive development are all affected in this rare disorder, diagnosed by physical exam, imaging and genetic testing that guides surgical planning.
Cleft lip, cleft palate and pits on the lower lip follow autosomal dominant IRF6 mutations, confirmed by single-gene tests, panels or whole exome sequencing.
Variants in CYP2C9 and VKORC1 change how fast warfarin is metabolized and how sensitive a patient is, so testing can inform starting dose and risk stratification.
Irregular cycles, infertility and pelvic pain can point to the ovaries; cysts, tumors, Turner and Fragile X syndrome are covered with BRCA1 and BRCA2 testing.
Dark, velvety patches on the neck, armpits and groin are often tied to insulin resistance; examination, blood tests, skin biopsy and related syndromes are described.