Bonnemann–Meinecke–Reich Syndrome
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 of life with slow development and an ...
Rx Pregnancy, Baby & Mom Care
Bloom–Torre–Machacek Syndrome
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 stay much shorter and thinner than others ...
Blepharophimosis–Intellectual Disability Syndrome (BIDS)
Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are shorter and narrower than usual. Many ...
Blepharocheilodontic Syndrome
Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and the teeth (-dontic). The most common ...
Paediatric Granulomatous Arthritis (PGA)
Paediatric granulomatous arthritis (PGA) is a rare, inherited, autoinflammatory disease that begins in early childhood. “Autoinflammatory” means the child’s innate immune system becomes too active ...
Congenital Exstrophy of the Urinary Bladder
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 bladder also stays open. At birth, the inside ...
Congenital Ectopic Bladder
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 tract do not close properly before birth. ...
Bird-Headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, and Primary Gonadal Insufficiency
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency or Bangstad syndrome is a very rare inherited condition. Children are unusually ...
Binder Syndrome
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 jaw (premaxilla) is small and set back, ...
Nuclear Jaundice
Nuclear jaundice means brain injury in a newborn caused by very high levels of unconjugated bilirubin (the yellow pigment that makes newborns look jaundiced). When bilirubin gets too high, it can ...
Perinatal Biliary Atresia
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 flow out. Bile builds up in the liver. ...
Brunzell Syndrome
“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 muscles. This causes very high blood fats ...
Berardinelli Lipodystrophy Syndrome
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic disease present from birth. In this condition, the body is missing almost all normal fat tissue under the skin and around organs. ...
Berardinelli–Seip Syndrome (Congenital Generalized Lipodystrophy)
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 fat tissue is missing, fat gets stored in ...
Berardinelli-Seip Congenital Lipodystrophy
Berardinelli–Seip congenital lipodystrophy is a rare genetic disease present from birth. Babies and children with this condition have almost no body fat under the skin and around organs. Because fat ...
Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy
Benign partial epilepsy with secondarily generalized seizures in infancy (now grouped by the International League Against Epilepsy under self-limited infantile epilepsy, often linked to PRRT2 ...
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