PLOD2-Related Bruck Syndrome (Bruck Syndrome Type 2, BRKS2) is a very rare genetic bone disorder where two problems happen together: babies are born with stiff or fixed joints (congenital ...
Bruck syndrome caused by mutation in PLOD2 is a very rare inherited bone and joint condition. Babies are usually born with stiff joints (contractures) and later develop fragile bones that break ...
Bruck syndrome is a rare genetic bone and joint disorder. Babies are born with stiff joints (called contractures) and bones that break easily. Doctors describe it as a mix of two things seen ...
Type VIB Ehlers-Danlos syndrome is a rare, inherited connective-tissue disorder caused by pathogenic variants in the FKBP14 gene. It typically presents with congenital muscle hypotonia (floppy ...
“X-linked mental retardation, Reish type” is an old name for a rare, inherited condition first described by Dr. Reish and colleagues. Today it is usually grouped under the acronym BRESEK or BRESHECK. ...
BRESHECK (also written BRESEK) is a very rare genetic condition seen mostly in boys. It affects many parts of the body from birth. The name is an acronym that describes the common problems:...
Brain anomaly A brain anomaly is a difference in how the brain formed or looks. It can be very small or very large. It may affect thinking, movement, speech, vision, or seizures. Some brain ...
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome.” Clinicians usually shorten this into the acronyms BRESEK (Brain ...
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: Brain anomalies, severe Retardation ...
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 get infected after contact with ...
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 or tags in front of the ear, small cysts ...
Branchio-otic (BO) syndrome is part of the branchio-oto-renal (BOR) spectrum but without kidney malformations; it features branchial cysts/fistulae, ear malformations, and hearing loss. It is usually ...
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 baby is born. The most typical skin ...
Hemangiomatous branchial clefts–lip pseudocleft syndrome” describes a rare, inherited birth-defect pattern where parts of the neck, face, and eyes do not form normally before birth. Children can have ...
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 the face (“facial”). Most babies with BOFS ...
Branchio-Oculo-Facial Syndrome (BOFS) (also called Braddock-Carey syndrome/Braddock syndrome). It is a rare genetic condition caused by TFAP2A gene variants and characterized by branchial cleft ...
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 red skin patches on the neck or around ...
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 malformations of the ears. Children ...
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 that forms early in the embryo) and it ...
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 urinary tract. “Branchio” refers to the ...
