BRESEK syndrome is an extremely rare, inherited condition that affects many body systems from birth. The name is an acronym that summarizes its key features: ...

Breast angiosarcoma is a rare, fast-growing cancer that starts in the cells lining blood vessels or lymph vessels within the breast or the breast skin. Because ...

Sabiá hemorrhagic fever is a rare but severe viral illness caused by the Sabiá virus, a New World mammarenavirus (family Arenaviridae). It can lead to high ...

Brazilian hemorrhagic fever is a very rare viral illness. It is caused by the Sabiá mammarenavirus (SABV), an arenavirus found in South America. People usually ...

Branchio-otic dysplasia (BOS) is a rare genetic condition that affects how parts of the neck and ears form before birth. People with BOS often have tiny pits ...

Branchio-otic (BO) syndrome is part of the branchio-oto-renal (BOR) spectrum but without kidney malformations; it features branchial cysts/fistulae, ear ...

Lip pseudocleft–hemangiomatous branchial cyst syndrome is a birth-time (congenital) condition that affects how parts of the face, eyes, and neck form before a ...

Hemangiomatous branchial clefts–lip pseudocleft syndrome” describes a rare, inherited birth-defect pattern where parts of the neck, face, and eyes do not form ...

Branchio-Oculo-Facial Syndrome (BOFS) is a very rare genetic condition that affects the skin and tissues of the neck (“branchio-”), the eyes (“oculo-”), and ...

Branchio-Oculo-Facial Syndrome (BOFS) (also called Braddock-Carey syndrome/Braddock syndrome). It is a rare genetic condition caused by TFAP2A gene variants ...

Branchio-oculo-facial syndrome (BOFS) is a rare condition that starts before birth. It affects the face, neck, eyes, and nearby skin. Many babies have thin or ...

Mégarbané–Loiselet syndrome is an extremely rare genetic condition reported in a single family. It causes birth defects of the branchial arches in the neck and ...

Branchiogenic hearing loss syndrome refers to a group of birth conditions where parts of the neck and ear that grow from the branchial arches (structures that ...

Branchiogenic deafness syndrome is a very rare condition present from birth. It affects parts of the neck that come from the second branchial arch (a structure ...

Melnick–Fraser syndrome is a rare, inherited condition that affects the neck (branchial arches), the ears (outer, middle, and inner parts), and the kidneys and ...

Branchio-oto-renal (BOR) dysplasia is a genetic condition that affects the neck (branchial area), the ears (hearing system), and the kidneys. Children or ...

Branchio-oto-renal (BOR) syndrome is a genetic condition that mainly affects the neck, the ears, and the kidneys. “Branchio” refers to tissues in the side of ...

Autism–epilepsy syndrome due to branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK deficiency) is a rare genetic condition that affects how the ...

Branched-chain keto acid dehydrogenase kinase (BCKDK) deficiency is a rare genetic disorder in which the BCKDK enzyme does not work well. BCKDK normally puts a ...

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome is a rare genetic condition that affects three organs at once: the brain, the lungs, and ...