Skeletal malformations without the bowed long bones of other campomelic dysplasias, sometimes with sex reversal, trace to SOX9 mutations found by genetic testing.
Needle-like clouding of the lens at birth defines aculeiform cataract; variants in GJA3, GJA8, LIM2 and Epha2 are implicated, and testing can confirm the cause.
Multiple colon polyps that can turn malignant define adenomatous colonic polyposis, including FAP and MUTYH-associated polyposis; NTHL1 and APC findings guide care.
Fewer than 100 colorectal polyps and later cancer onset separate AFAP from classic FAP; APC gene testing confirms it and flags relatives who should be screened.
Two conditions are covered together: APC mutations that fill the colon with polyps, and a cyst-like growth in the middle ear that can cause hearing loss.
Also called male or female pattern baldness, AGA is hereditary hair loss shaped by genes and androgens. Treatments include Minoxidil, Finasteride and PRP.
Mutations in the SERPINA1 gene cut production of the AAT protein that shields the lungs, raising the risk of emphysema, COPD and liver cirrhosis.
Elevated alpha-fetoprotein does not always point to cancer or a neural tube defect: HPAFP is a benign autosomal dominant cause that genetic testing can confirm.