Autosomal dominant macrothrombocytopenia is a lifelong, inherited bleeding condition. “Autosomal dominant” means one changed gene from either parent can cause the disorder. “Macro-thrombo-cyto-penia” ...
Chondrodysplasia punctata, Sheffield type is an older name that doctors used for a mild, symmetrical form of chondrodysplasia punctata (CDP). Today, many genetics catalogs group this under autosomal ...
Bone Marrow Failure Syndrome Type 1 (BMFS1) is a rare, autosomal-dominant inherited disorder where the bone marrow slowly stops making enough healthy blood cells. People can present in childhood with ...
Autoimmune thrombocytopenic purpura (ITP)—now most often called immune thrombocytopenia—is a bleeding condition caused by the immune system mistakenly attacking platelets, the blood cells that help ...
Metaphyseal dysplasia is an umbrella term for rare genetic bone conditions where the metaphyses—the flared ends of long bones near the joints—develop abnormally. On X-rays, the ends of the bones ...
RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-system disorder caused by somatic (acquired) “gain-of-function” mutations in the genes NRAS or KRAS inside blood-forming ...
Autoimmune lymphoproliferative syndrome type 4 is a rare immune system problem. In this condition, white blood cells do not switch off and die when they should. As a result, too many lymphocytes ...
Autoimmune lymphoproliferative syndrome caused by mutation in CASP8/Caspase-8 deficiency is a very rare, inherited problem of the immune system where a gene called CASP8 does not work properly. ...
Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disorder in which a safety switch that tells certain immune cells (T lymphocytes) to die when they’re no longer needed doesn’t work properly. ...
Hereditary flat adenoma syndrome (HFAS)” is an older name for a milder form of familial adenomatous polyposis (FAP). Today, most experts call it attenuated familial adenomatous polyposis (AFAP), a ...
Attenuated adenomatous polyposis coli” is the milder form of familial adenomatous polyposis (FAP). It happens when a person is born with a harmful change (a “pathogenic variant”) in the APC gene. ...
Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that causes a person to grow fewer colon and rectal polyps than the classic form of FAP—usually between about 10 and 100 ...
Giant cell chondrodysplasia, in today’s language, means a bone or jaw growth problem where the tissue shows many “giant cells” under the microscope and the person may also have a ...
Myelocerebellar disorder is an older name that doctors used for a rare, inherited condition now usually called ataxia-pancytopenia (AP) syndrome caused by changes in the SAMD9L gene. “Myelo-” points ...
Inherited bone-marrow failure means a person is born with a change in a gene that weakens the bone marrow. The bone marrow is the soft center part inside bones. It makes red cells to carry oxygen, ...
Ataxia-Pancytopenia Syndrome (ATXPC) is a rare, inherited disorder caused most often by changes (variants) in a gene called SAMD9L. “Ataxia” means problems with balance and coordination because the ...
