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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
Goossens–Devriendt syndrome (also called brain malformation–congenital heart disease–postaxial polydactyly syndrome) is a very rare genetic condition first ...
Brain malformation–congenital heart disease–postaxial polydactyly syndrome (also known as Goossens-Devriendt syndrome) is a very rare genetic condition. A baby ...
Parkinsonism-dystonia 2, infantile-onset (PKDYS2) is a very rare genetic brain disorder that starts in infancy. It happens when a child inherits two faulty ...
VATER-like syndrome refers to a pattern of birth differences that tend to appear together. Doctors first used the shorter name VATER for: Vertebral defects, ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Braddock syndrome is a very rare birth-defect condition. It was first described in two siblings. Babies have a VACTERL-like association of multiple anomalies. ...
Brachytelephalangy-dysmorphism-Kallmann syndrome is a very rare condition that affects body shape (especially the hands and face) and the hormones that start ...
Autosomal dominant brachyolmia type 3 (often abbreviated BCYM3) is a rare, inherited bone growth disorder that mainly affects the spine. Children usually look ...
Verloes-Bourguignon syndrome is a very rare, inherited condition that mainly affects the teeth and the spine. Children usually have weak or very thin tooth ...
Selective tooth agenesis-5 (often shortened to STHAG5) is a genetic form of “missing teeth from birth.” In this condition, one or more permanent teeth never ...
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome is a very rare genetic disorder. It affects the spine, body height, and teeth. ...
Brachyolmia-amelogenesis imperfecta syndrome is a very rare, inherited condition that affects the spine, body height, hips, and teeth. Children grow with a ...
Senior syndrome or Senior–Løken syndrome (SLSN) — the rare oculo-renal ciliopathy that combines nephronophthisis (kidney scarring that leads to chronic kidney ...
Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome is a very rare genetic condition. People are usually short in height. The little finger and little ...
Brachydactyly-syndactyly syndrome is a rare, inherited condition that affects the hands and feet. “Brachydactyly” means the fingers or toes are shorter than ...
Preaxial Brachydactyly with Hallux Varus and Thumb Abduction means the short bones are on the “preaxial” side of the limb. This is the thumb side in the hand ...
Brachydactyly-preaxial hallux varus syndrome is a very rare, inherited hand–foot difference. Brachydactyly means some digits are short....
