Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a very rare inherited disorder. It causes early, widespread hardening and narrowing of ...

Atelosteogenesis type III (AO3) is a very rare genetic condition that affects how bones form before birth. Babies are usually born with very short arms and ...

Thanatophoric Dysplasia Type 1 (TD1) is a genetic bone growth disorder that starts before birth and is obvious at birth. Babies with TD1 have very short arms ...

Atelosteogenesis type II is a very rare, very severe bone and cartilage growth disorder that begins before birth. It happens because the baby’s cartilage—the ...

Spondylo-humero-femoral dysplasia (SHFD) is a very rare genetic bone disorder that affects the spine (spondylo-), the upper arm bones (humeri), and the thigh ...

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 ...

Atelosteogenesis type I is a very rare genetic condition that affects how bones form before birth. Babies have very short arms and legs, dislocated large ...

Oculomotor apraxia (OMA) means the brain has trouble starting fast eye movements called saccades, especially when trying to look to the side on purpose. People ...

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia is a rare, inherited brain and nerve disorder that starts in childhood. The main problems are ...

Ataxia-telangiectasia-like disorder 2 (ATLD2) is a very rare, inherited (autosomal recessive) brain and body condition. It happens when both copies of a gene ...

MRE11 (MRE11A)–related ataxia-telangiectasia–like disorder 1 (ATLD1) is a rare, inherited brain and body condition caused by harmful changes in the MRE11A ...

Ataxia-telangiectasia-like disorder (ATLD) is a very rare, inherited brain and body condition. It happens when both copies of a person’s MRE11 gene have ...

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare, inherited brain condition that slowly damages the cerebellum—the part of the brain that controls ...

Ataxia-tapetoretinal degeneration syndrome—better known today as spinocerebellar ataxia type 7 (SCA7) is a rare, inherited neurodegenerative disease in which a ...

Fenton–Wilkinson–Toselano syndrome is an extremely rare genetic condition in which three main problems occur together: (1) problems with balance and ...

Ataxia-photosensitivity-short stature syndrome (APSS) is a very rare, likely genetic condition. The classic triad is: (1) problems with balance and ...

Myelocerebellar disorder is an older name that doctors used for a rare, inherited condition now usually called ataxia-pancytopenia (AP) syndrome caused by ...

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 ...

Ataxia-Pancytopenia Syndrome (ATXPC) is a rare, inherited disorder caused most often by changes (variants) in a gene called SAMD9L. “Ataxia” means problems ...

Hypogonadotropic hypogonadism—also called secondary hypogonadism—happens when the brain’s hormone signals are too weak to tell the gonads (testes or ovaries) ...