Branchio-oto-renal (BOR) dysplasia is a genetic condition that affects the neck (branchial area), the ears (hearing system), and the kidneys. Children or adults may have small pits or cysts in the ...
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 the neck that come from the branchial ...
Autism–epilepsy syndrome due to branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK deficiency) is a rare genetic condition that affects how the body uses three essential amino acids ...
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 “brake” on the body’s machine that ...
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome is a rare genetic condition that affects three organs at once: the brain, the lungs, and the thyroid gland. Babies can have ...
Goossens–Devriendt syndrome (also called brain malformation–congenital heart disease–postaxial polydactyly syndrome) is a very rare genetic condition first described in a few newborns who had four ...
Brain malformation–congenital heart disease–postaxial polydactyly syndrome (also known as Goossens-Devriendt syndrome) is a very rare genetic condition. A baby is born with three main problems: (1) a ...
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 copies of a gene called SLC18A2. This gene ...
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, Anal atresia, Tracheo-Esophageal fistula ...
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. “VACTERL” means a non-random mix of ...
Brachytelephalangy-dysmorphism-Kallmann syndrome is a very rare condition that affects body shape (especially the hands and face) and the hormones that start puberty and control the sense of smell. ...
Autosomal dominant brachyolmia type 3 (often abbreviated BCYM3) is a rare, inherited bone growth disorder that mainly affects the spine. Children usually look short in the trunk with a relatively ...
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 enamel (a problem called “amelogenesis ...
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 form during early development. Wisdom ...
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome is a very rare genetic disorder. It affects the spine, body height, and teeth. “Brachyolmia” means the bones of the spine are ...
Brachyolmia-amelogenesis imperfecta syndrome is a very rare, inherited condition that affects the spine, body height, hips, and teeth. Children grow with a short trunk and often mild short stature. ...
Senior syndrome or Senior–Løken syndrome (SLSN) — the rare oculo-renal ciliopathy that combines nephronophthisis (kidney scarring that leads to chronic kidney disease) with retinal dystrophy (often ...
Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome is a very rare genetic condition. People are usually short in height. The little finger and little toe are often small or under-developed. ...
Brachydactyly-syndactyly syndrome is a rare, inherited condition that affects the hands and feet. “Brachydactyly” means the fingers or toes are shorter than usual because some bones are shorter or ...
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 and the great-toe side in the foot. In ...
