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

Benign partial epilepsy with secondarily generalized seizures in infancy (now grouped by the International League Against Epilepsy under self-limited infantile ...

Benign Partial Epilepsy of Infancy with Complex Partial Seizures—historically “benign familial (or non-familial) infantile seizures,” sometimes described as ...

Benign paroxysmal torticollis of infancy is a short-lasting, repeatable head-tilt problem that starts in babies. During an “attack,” a baby’s head tilts to one ...

Self-limited familial neonatal epilepsy (SLFNE) is a genetic epilepsy that starts in the first days of life in otherwise healthy newborns. Seizures often ...

Benign neonatal familial convulsions (BNFC) is a rare, inherited epilepsy syndrome. Seizures begin in otherwise healthy newborns, most often between day 2 and ...

Benign familial neonatal seizures is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Seizures are brief, can ...

Benign familial neonatal epilepsy is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Babies have short ...

Benign familial neonatal convulsions (BFNC) are brief seizures that start in the first days of life in otherwise healthy newborns, often occurring in clusters, ...

Benign Infantile Seizures Associated with Mild Gastroenteritis is a short-lived seizure condition that happens in babies and young children during a mild ...

Benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE) is a rare epilepsy syndrome that starts in very young children. “Infantile” ...

Hemifacial hyperplasia–strabismus syndrome is a very rare birth condition where one side of the face grows more than the other and the eyes do not point in the ...

Bencze syndrome is an extremely rare birth condition. It causes one side of the face to grow a little more than the other, and it often appears together with ...

Beare–Stevenson cutis gyrata syndrome (often shortened to “Beare–Stevenson syndrome” or “BSS”) is a very rare genetic condition. Babies are born with ...

Barber–Say syndrome is an extremely rare, present-at-birth (congenital) condition that mainly affects the skin, hair, eyelids, mouth, and facial shape. Babies ...

Bamforth–Lazarus syndrome is a very rare genetic condition. Babies are born with congenital hypothyroidism (the thyroid gland does not work or is missing), and ...

Axial Mesodermal Dysplasia Spectrum (AMDS) is a rare condition that begins very early in pregnancy when the embryo is forming. It describes patients who show ...

Axenfeld anomaly is a birth-time (congenital) change in the front part of the eye. The clear window of the eye (cornea) has a rim inside it called Schwalbe’s ...

Multiple pterygium syndrome (MPS) is a rare genetic condition that a baby is born with. The most noticeable signs are soft-tissue “webs” of skin (called ...

Hypohidrotic autosomal recessive ectodermal dysplasia (AR-HED) is a group of genetic conditions where parts of the body that come from the “ectoderm” ...