Bernard-Soulier syndrome is a rare bleeding disorder that you are born with. It happens because the platelets do not stick well to damaged blood vessels. ...

Bernard–Soulier thrombopathy is a rare, inherited bleeding disorder where platelets—the tiny cell fragments that plug holes in injured blood vessels—are both ...

Bernard–Soulier syndrome is a rare inherited bleeding disorder. In BSS, platelets are abnormally large and often fewer than normal. Doctors call this ...

Berk–Tabatznik syndrome (BTS) is an ultra-rare congenital condition described in only a few patients. The consistent features across reports are: short ...

Total lipodystrophy means the body loses almost all its fat everywhere. “Fat” here means adipose tissue, which stores energy and makes hormones like leptin and ...

Generalised congenital lipodystrophy (GCL) is a rare genetic condition present from birth. In GCL, the body has almost no fat tissue (adipose tissue) under the ...

“Brunzell syndrome” describes people who do not have normal body fat from birth. Because fat cells are missing, fat “spills” into organs like the liver and ...

Berardinelli-Seip syndrome is a rare genetic condition where the body is born with almost no fat tissue under the skin and around organs. Because fat cells are ...

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic disease present from birth. In this condition, the body is missing almost all normal fat ...

Berardinelli-Seip syndrome is a rare genetic disease present from birth. The body is born with almost no fat tissue under the skin or around organs. Because ...

Berardinelli–Seip congenital lipodystrophy is a rare genetic disease present from birth. Babies and children with this condition have almost no body fat under ...

B-cell expansion with nuclear factor kappa-light-chain enhancer of activated B cells and T-cell anergy disease is a rare, inherited immune system disorder. ...

B-cell Expansion with NF-κB and T-cell Anergy is a rare, inherited immune disorder caused by gain-of-function (GOF) mutations in the gene CARD11. CARD11 sits ...

BENTA disease is a rare genetic problem of the immune system. “BENTA” stands for B-cell Expansion with NF-κB and T-cell Anergy. In simple words, people with ...

Perinatal lethal bent bone dysplasia is a very rare genetic bone disorder. It affects a baby before birth. The bones do not form in a normal way. The long ...

FGFR2-related bent bone dysplasia is a very rare genetic bone disorder. It starts before birth. A single gene called FGFR2 has a harmful change (a mutation). ...

Bent bone dysplasia syndrome 1 (BBDS1) is a very rare, usually lethal skeletal (bone) disorder that begins before birth. It is caused by disease-causing ...

Benign Samaritan congenital myopathy is a very rare, inherited muscle condition. Babies are born very “floppy” (low muscle tone) and can have trouble ...

Benign Recurrent Intrahepatic Cholestasis type 2 (BRIC2) is a rare, inherited liver condition. People with BRIC2 have repeated “attacks” (episodes) in which ...

Benign recurrent intrahepatic cholestasis (BRIC) caused by ATP8B1 mutation is a rare, inherited liver disorder. “Benign” here means it usually does not cause ...