Dysmorphism Syndrome
“Dysmorphism syndrome” is a broad medical term doctors use when a person has a pattern of body or facial features that look different from what is common in the general population, and those ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Xia-Gibbs Syndrome
Xia-Gibbs syndrome is a rare genetic condition that affects brain growth and body development. It happens when one copy of a gene called AHDC1 does not work properly. Most children are born with the ...
AHDC1 Related Intellectual Disability
AHDC1-related intellectual disability is a genetic condition that affects how the brain develops and works. It is usually caused by a new (de novo) change in a gene called AHDC1. This gene helps ...
Dysgnathia Complex With Agnathia–Holoprosencephaly
Dysgnathia complex with agnathia–holoprosencephaly is a very rare birth defect pattern that affects the face and the brain together. “Agnathia” means the lower jaw (mandible) is missing or very ...
Agnathia Holoprosencephaly–Situs Inversus Syndrome
This is an ultra-rare and typically lethal association of defects—most babies do not survive long after birth. The literature is made up mostly of case reports and small series. There is no curative ...
Agnathia–Otocephaly Complex (AOC)
Agnathia–otocephaly complex is a very rare birth condition where the lower jaw (mandible) is missing or extremely small, and the ears may be fused toward the front and midline of the neck. The tongue ...
Andermann Syndrome
Andermann syndrome is a rare genetic condition that affects both the brain and the nerves in the body. The main brain change is that the corpus callosum, the bridge of nerve fibers that connects the ...
Disorder of Glycine Amidinotransferase (AGAT) Activity
Disorder of glycine amidinotransferase (AGAT) activity is a rare, inherited condition where the body cannot make enough creatine, a small energy-carrying molecule that the brain and muscles need. The ...
Cerebral Creatine Deficiency Syndromes
Cerebral Creatine Deficiency Syndromes are rare, inherited brain energy disorders in which the brain cannot make, convert, or transport enough creatine into brain cells. Creatine is a small molecule ...
Arginine: Glycine Amidinotransferase (AGAT) Deficiency
AGAT deficiency is a very rare inherited disease that blocks the first step of the body’s creatine-making pathway. The AGAT enzyme (made by the GATM gene) normally joins the amino acids arginine and ...
AGAT Deficiency
AGAT deficiency (also called arginine:glycine amidinotransferase deficiency or GATM-related cerebral creatine deficiency). This is a very rare, inherited condition that affects the immune system, ...
Bantu Siderosis
Bantu siderosis is an iron overload disease seen mostly in parts of sub-Saharan Africa. The body slowly takes in too much iron over many years. Most of the extra iron comes from regularly drinking ...
Advanced Sleep Phase Syndrome
Advanced Sleep Phase Syndrome (also called Advanced Sleep-Wake Phase Disorder) is a body-clock problem where your internal day runs earlier than most people. You feel sleepy very early in the evening ...
Wissler–Fanconi Syndrome
Wissler–Fanconi syndrome is a very rare inflammatory illness that looks like sepsis at first glance: people develop high, swinging fevers, a repeating rash, painful/swollen joints, and very high ...
Adult Onset Still Disease
Adult-onset Still disease is a rare inflammatory disease of the whole body. It usually starts in young or middle adulthood. The immune system becomes overactive and releases many “fire” signals ...
Finkel Disease
Finkel disease is another name for Finkel-type spinal muscular atrophy (SMAFK). It is a rare, inherited motor-neuron disorder that usually begins in adulthood (often after age 30). It causes slow, ...
Adult Onset Foveomacular Dystrophy with Choroidal Neovascularization (CNV)
Adult-onset foveomacular vitelliform dystrophy (AOFVD)—also called adult-onset vitelliform macular dystrophy (AVMD) or adult vitelliform maculopathy—is a rare macular condition that usually begins in ...
Adult-Onset Foveomacular Dystrophy (AOFVD)
Adult-onset foveomacular dystrophy is a macular condition that usually starts in adults. It causes a round, slightly raised, yellow “egg-yolk–like” spot in the center of the retina (the ...
Adult-onset distal myopathy due to VCP mutation
Adult-onset distal myopathy due to VCP mutation is a rare, inherited muscle disease. It usually starts in mid-life. The first signs are weakness and thinning of the muscles in the lower legs, ...
Adult-onset Chronic Progressive External Ophthalmoplegia (CPEO) with Mitochondrial Myopathy
Adult-onset chronic progressive external ophthalmoplegia is a mitochondrial muscle disease. It mainly affects the muscles that move the eyes and lift the eyelids. The eyelids slowly droop (ptosis). ...
