Atkin–Flaitz–Patil–Smith Syndrome
Atkin–Flaitz–Patil–Smith syndrome is an extremely rare, X-linked syndromic intellectual disability described in a single extended family in the medical literature. Core features reported across ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Atkin-Flaitz Syndrome
Atkin-Flaitz syndrome (also reported as Atkin–Flaitz–Patil–Smith syndrome; sometimes listed as Atkin syndrome) is a rare X-linked genetic condition. It mainly causes intellectual disability, ...
Feigenbaum–Bergeron–Richardson Syndrome (FBR Syndrome)
Feigenbaum–Bergeron–Richardson syndrome is an ultra-rare genetic disorder reported in the medical literature in 1994 in two brothers. It combines premature, diffuse atherosclerosis (hardening and ...
Atherosclerosis Deafness Diabetes Epilepsy Nephropathy (ADDEN) Syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a very rare inherited disorder. It causes early, widespread hardening and narrowing of arteries (premature atherosclerosis). It also ...
Spondylo Humero Femoral Dysplasia (SHFD)
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 bones (femora). Babies are born with very ...
Ataxia, Early-Onset, With Oculomotor Apraxia and Hypoalbuminemia
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia is a rare, inherited brain and nerve disorder that starts in childhood. The main problems are poor balance and coordination (ataxia) ...
Ataxia Telangiectasia Like Disorder 2 (ATLD2)
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 called PCNA (proliferating-cell nuclear ...
MRE11 (MRE11A) Related Ataxia- Telangiectasia–Like Disorder 1 (ATLD1)
MRE11 (MRE11A)–related ataxia-telangiectasia–like disorder 1 (ATLD1) is a rare, inherited brain and body condition caused by harmful changes in the MRE11A gene. This gene makes a protein called ...
Ataxia Telangiectasia Like Disorder Caused by Pathogenic Variants in MRE11
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 harmful changes (variants). The MRE11 gene ...
Ataxia Telangiectasia Like Disorder 1 (ATLD1)
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare, inherited brain condition that slowly damages the cerebellum—the part of the brain that controls balance, coordination, and eye movements. ...
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia-tapetoretinal degeneration syndrome—better known today as spinocerebellar ataxia type 7 (SCA7) is a rare, inherited neurodegenerative disease in which a progressive cerebellar ataxia (unsteady ...
Fenton–Wilkinson–Toselano Syndrome
Fenton–Wilkinson–Toselano syndrome is an extremely rare genetic condition in which three main problems occur together: (1) problems with balance and coordination (ataxia) that look like a cerebellar ...
Ataxia-Photosensitivity-Short Stature Syndrome (APSS)
Ataxia-photosensitivity-short stature syndrome (APSS) is a very rare, likely genetic condition. The classic triad is: (1) problems with balance and coordination (ataxia), (2) abnormally strong skin ...
Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism
Spinocerebellar ataxia (SCA) and hypogonadotropic hypogonadism (HH) means the nerve pathways that coordinate balance, eye movements, hand control, and speech—especially the cerebellum and its ...
Boucher-Neuhäuser Syndrome
Boucher-Neuhäuser syndrome is a very rare inherited condition. It has a “triad” of three main problems that tend to appear over time: (1) cerebellar ataxia (balance and coordination problems due to ...
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome (AHCD)
Ataxia-hypogonadism-choroidal dystrophy syndrome (AHCD) is a very rare, inherited neurological condition defined by a triad: (1) cerebellar ataxia (unsteady movement and balance due to cerebellum ...
Louis-Bar Syndrome
Louis-Bar syndrome, also called Ataxia-Telangiectasia (A-T), is a rare, inherited condition that affects movement control, the immune system, and many other organs. Children usually develop balance ...
Boder–Sedgwick Syndrome
Boder–Sedgwick syndrome—better known as Ataxia–Telangiectasia (A-T)—is a rare, inherited condition caused by faults (mutations) in the ATM gene. Children typically develop unsteady movement (ataxia), ...
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts syndrome (AIOCC)
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts syndrome (AIOCC) is a rare, inherited brain condition. It mainly affects the cerebellum, the part of the brain that coordinates ...
Reardon–Baraitser Syndrome
Reardon–Baraitser syndrome, also called pseudo-TORCH syndrome or congenital intrauterine infection-like syndrome is a very rare, inherited brain-development disorder that looks like a congenital ...
