Brachydactyly type E is a birth condition where some of the long bones in the hands and feet are shorter than usual. The bones most often affected are the ...

Brachydactyly type A7 (BDA7) is a very rare birth condition where some bones of the fingers and toes are shorter or shaped differently than usual. Doctors call ...

Brachymesophalangy means a short middle finger bone (middle phalanx). When doctors say “II and V”, they mean it affects the 2nd finger (index finger = II) and ...

Brachydactyly type A4 is a birth difference of the hands and feet where certain finger and toe bones are short or missing. In BDA4, the middle phalanges (the ...

Farabee-type brachydactyly (BDA1) is a rare, inherited difference of the hands (and sometimes feet) where the middle finger bones (called middle phalanges) are ...

Bowen-Conradi Hutterite Syndrome is a very rare inherited condition that affects many parts of a baby’s body before birth and after birth. It belongs to a ...

Bonnemann–Meinecke–Reich syndrome is an ultra-rare condition with multiple birth anomalies and early brain dysfunction. It typically shows up in the first year ...

Bloom–Torre–Machacek syndrome is a rare, inherited condition. It affects growth, skin, the immune system, and cancer risk. Children are small at birth. They ...

Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are ...

Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and ...

Paediatric granulomatous arthritis (PGA) is a rare, inherited, autoinflammatory disease that begins in early childhood. “Autoinflammatory” means the child’s ...

Congenital exstrophy of the urinary bladder is a birth defect. The lower belly wall does not close in the middle during early pregnancy. The front of the ...

Congenital ectopic bladder means a baby is born with the bladder sitting partly or fully outside the lower belly. The belly wall, pelvic bones, and urinary ...

Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency or Bangstad syndrome is a very rare ...

Binder syndrome is a rare, birth-present (congenital) condition in which the middle part of the face and the nose do not grow normally. The front of the upper ...

Nuclear jaundice means brain injury in a newborn caused by very high levels of unconjugated bilirubin (the yellow pigment that makes newborns look jaundiced). ...

Perinatal biliary atresia is a disease of newborn babies. The small tubes that carry bile from the liver to the intestine are damaged and blocked. Bile cannot ...

“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 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 ...