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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
Type VIB Ehlers-Danlos syndrome is a rare, inherited connective-tissue disorder caused by pathogenic variants in the FKBP14 gene. It typically presents with ...
“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 ...
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 ...
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, ...
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome.” Clinicians usually shorten ...
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: ...
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 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 ...
