Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare inherited skin and blood-clotting disorder. The skin over the trunk and limbs becomes very loose and ...
Congenital telangiectatic erythema is an inherited disorder that starts at birth and involves the skin, growth, the immune system, the endocrine system, and cancer risk. The hallmark is a red, ...
Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable than usual. DNA is the instruction code in every cell. In Bloom syndrome, a gene called BLM does not work ...
Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It happens when platelets do not make enough thromboxane A₂ (TXA₂), or cannot use TXA₂ the right way. ...
Granulomatosis means “a body condition where many granulomas form.”A granuloma is a small, tight cluster of immune cells that the body builds when it cannot easily clear something—like a germ, a tiny ...
KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a very rare genetic condition present from birth. It happens when the working (maternally expressed) copy of ...
Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description doctors use when a child (or adult) has (1) intellectual disability or global developmental delay (learning ...
Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental condition caused by changes (variants) in a gene called KCNK9. The KCNK9 gene normally helps brain cells control ...
Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. It mainly affects the brain and the muscles. Babies are born with weak muscle tone (called hypotonia). They ...
Microcephalic primordial dwarfism, Montreal type is an extremely rare genetic condition. Children have very short height that affects the whole body (proportionate short stature) and a small head ...
Bird-headed dwarfism, Montreal type is an extremely rare, multi-system genetic disorder first described in Montreal in 1970. It causes very short stature (dwarfism) that becomes obvious after birth, ...
Late-onset multiple carboxylase deficiency is a rare, inherited problem of biotin (vitamin B7) use and recycling. Biotin is a helper for several enzymes called carboxylases. These enzymes are needed ...
Juvenile-onset multiple carboxylase deficiency (MCD) is an umbrella term for problems in the body’s biotin system. Biotin is a vitamin (vitamin B7) that helps important enzymes, called carboxylases, ...
Biotinidase deficiency is a genetic condition that stops the body from recycling biotin, a B-vitamin that enzymes need to turn food into energy and to make fats and other important molecules. In ...
Thiamine-responsive encephalopathy is a brain disorder where a shortage of usable thiamine inside brain cells causes swelling and injury in key deep brain areas (especially the basal ganglia). In the ...
Thiamine transporter-2 deficiency is a rare, inherited brain-energy disorder. It happens when a person inherits harmful changes (variants) in a gene called SLC19A3. This gene makes a protein ...
Biotin- or Thiamine-Responsive Encephalopathy Type 2 (THMD2) is a rare, inherited brain energy problem. It happens because cells—especially in deep movement-control areas of the brain called the ...
Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2) is a rare, inherited brain energy problem. Your nerve cells need vitamin B1 (thiamine) to make energy. In TMDS2, a broken thiamine “doorway” (a ...
“Basal ganglia degeneration with calcification” means that tiny, rock-like calcium deposits build up inside deep brain areas called the basal ganglia. Over time, these deposits can disturb the normal ...
Basal ganglia calcification means tiny to large deposits of calcium salts inside deep brain areas called the basal ganglia (especially the globus pallidus, putamen, and caudate). These deposits can ...
