BK-virus nephropathy is kidney damage caused by the BK polyomavirus. Most people catch BK virus in childhood and the virus then “sleeps” silently in the ...

Pili torti-deafness syndrome is a very rare genetic condition. Children are born with, or soon develop, two main problems: (1) pili torti, which means the hair ...

Crandall syndrome is an ultra-rare, inherited condition that combines three main problems: (1) twisted, fragile hair called pili torti that leads to hair loss; ...

Hearing loss–pili torti–hypogonadism syndrome is a very rare genetic condition. It has three main features: (1) progressive sensorineural hearing loss (the ...

Deafness–Pili Torti–Hypogonadism Syndrome is a very rare genetic condition that links three main problems: (1) permanent inner-ear hearing loss (sensorineural ...

Björnstad syndrome is a very rare inherited condition that mainly affects hair and hearing. Children are born with, or develop early in life, pili torti—hair ...

Hornstein–Knickenberg syndrome is a rare, inherited condition. It runs in families in an autosomal-dominant way, so a parent can pass it to a child. It is ...

Acrochordons, also called skin tags, are very common, soft, harmless little growths that hang off the skin by a small “stalk.” They are usually the same color ...

Trichodiscomas are small, harmless bumps that grow from hair-follicle tissue in the skin. Doctors call them hamartomas, which means an overgrowth of normal ...

Fibrofolliculomas are small, smooth, skin-colored bumps that grow around a hair follicle. They are benign (not cancer). Each bump is usually 2–4 mm across, ...

Fibrofolliculomas and trichodiscomas are small, smooth, skin-colored to white bumps that usually show up on the face, neck, behind the ears, and upper trunk. ...

Birt-Hogg-Dubé syndrome is a rare, inherited condition that mainly affects the skin, lungs, and kidneys. It happens because of a change (pathogenic variant) in ...

KCNK9 imprinting syndrome is a very rare genetic condition that mainly affects the brain, muscles, and feeding in babies and children. Most babies are “floppy” ...

KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a very rare genetic condition present from birth. It happens when the ...

Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description doctors use when a child (or adult) has (1) intellectual disability or ...

Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental condition caused by changes (variants) in a gene called KCNK9. The KCNK9 gene ...

Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. It mainly affects the brain and the muscles. Babies are born with ...

Birk-Barel syndrome is a very rare, inherited brain-development disorder caused by changes in a single gene called KCNK9. This gene makes a potassium “leak” ...

Vitiliginous choroiditis is a long-lasting inflammation inside the back of the eye. It mainly affects the choroid (the layer that feeds the retina) and the ...

Vitiliginous chorioretinitis is a long-lasting inflammation in the back of the eye. It mainly affects the choroid (the blood-rich layer under the retina) and ...