Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome this triad sits on the spectrum of NKX2-1–related disorders, ...

Choreoathetosis and congenital hypothyroidism with pulmonary dysfunction also call it brain–lung–thyroid (BLT) syndrome or an NKX2-1–related disorder, because ...

Brain-Lung-Thyroid syndrome is a rare genetic condition that can affect the brain (movement control and development), the lungs (breathing), and the thyroid ...

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 ...

Brain monoamine vesicular transport disease is the rare genetic condition also called brain dopamine–serotonin vesicular transport disease, VMAT2 deficiency, ...

Brain dopamine-serotonin vesicular transport disease is a very rare genetic condition where a tiny “transport pump” in brain cells—called VMAT2—does not work ...

Prolonged electroretinal response suppression (PERRS) is a rare eye condition. After light shines in the eye, the retina should recover quickly. In PERRS, the ...

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 ...

Brachyrachia means an abnormally short spine. In this condition, the bones of the spine (the vertebrae) are short and flattened, so the whole trunk looks short ...

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 ...

Platyspondyly amelogenesis imperfecta is a very rare inherited disorder that affects the spine and the teeth. “Platyspondyly” means the bones of the spine ...

Dental anomalies are unusual changes in the teeth. They can affect how many teeth you have, how big they are, what shape they are, how strong the enamel (the ...

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 ...

Brachyolmia, Maroteaux type—also called brachyolmia type 2 (BCYM2)—is a rare, inherited bone disorder. It mainly affects the spine. Children typically look ...

Brachyrachia means a short spine. Doctors also call it short spine dysplasia. It is a rare genetic bone condition where the bones of the spine (the vertebrae) ...