Galactosialidosis
Galactosialidosis is a very rare genetic disease in which the “recycling centres” inside cells, called lysosomes, do not work properly. In healthy people, lysosomes use special proteins called ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Combined Deficiency of Sialidase and Beta-Galactosidase
Combined deficiency of sialidase and beta-galactosidase is a rare inherited disease where two important “clean-up” enzymes inside the cell do not work properly. Doctors usually call this condition ...
Familial Multiple Coagulation Factor Deficiency
Familial multiple coagulation factor deficiency is a group of rare inherited bleeding disorders where a person has low levels of two or more blood-clotting proteins at the same time. These proteins ...
American Mountain Tick Fever
American mountain tick fever is another name for a disease called Colorado tick fever. It is a rare sickness caused by a virus that lives inside certain mountain ticks in North America. When an ...
Microphthalmia, Syndromic Type 14
Microphthalmia, syndromic type 14 is a very rare genetic disease that affects the eyes, bones, and body growth. In this condition, one or both eyes are very small and not formed in the normal way. ...
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia
Microphthalmia-coloboma-rhizomelic skeletal dysplasia is a very rare genetic syndrome that affects eye development, bone growth, and sometimes the brain and other organs. “Microphthalmia” means one ...
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare genetic condition that starts when the baby is still in the womb. In this syndrome, the eyes do not form in a normal way and ...
Colobomatous Microphthalmia–Obesity–Hypogenitalism–Intellectual Disability Syndrome
Colobomatous microphthalmia–obesity–hypogenitalism–intellectual disability syndrome is a very rare genetic condition. In this syndrome, both eyes are small (microphthalmia), one eye usually has a gap ...
MACOM Syndrome
MACOM syndrome means “macrophthalmia, colobomatous, with microcornea.” It is a very rare genetic eye problem. In this condition, the clear front window of the eye (cornea) is smaller than normal ...
Colobomatous Macrophthalmia-Microcornea Syndrome
Colobomatous macrophthalmia-microcornea syndrome is a very rare eye condition that is present from birth and runs in families. In this condition, the clear front window of the eye (the cornea) is ...
Congenital Optic Disc Coloboma
Congenital optic disc coloboma is a birth defect of the optic nerve head (the place where the nerve enters the back of the eye). In this condition, a piece of tissue in the lower part of the optic ...
Sorsby Syndrome
Sorsby syndrome is a very rare genetic disease that affects both the eyes and the fingers and toes from birth. The main problems are a special type of eye defect called a macular coloboma (a missing ...
Coloboma of Macula–Brachydactyly Type B Syndrome
Coloboma of macula–brachydactyly type B syndrome is a very rare genetic condition that affects both the eyes and the hands/feet from birth and lasts for life. In this syndrome, the very center of the ...
Bone Fragility Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome is an extremely rare genetic disease that mainly affects bones of the skull and the whole skeleton. Children have very weak bones that ...
Cole-Carpenter Syndrome
Cole-Carpenter syndrome is an extremely rare genetic bone disease. It affects less than a few dozen people in the world. In this condition, the bones are weak and break easily, and the bones of the ...
CRLF1-Related Cold-Induced Sweating Syndrome
CRLF1-related cold-induced sweating syndrome, including Crisponi syndrome, is a very rare genetic disease that affects how the body controls temperature, sweating, face and limb shape, and some body ...
Cold-Induced Sweating Syndrome 1 (CISS1)
Cold-induced sweating syndrome 1 (CISS1) is a very rare genetic disease that affects how the body controls temperature and how the nerves and face develop. In this condition, a person sweats a lot ...
Sohar-Crisponi Syndrome
Sohar-Crisponi syndrome is a very rare genetic disease that mainly affects babies and children. It belongs to a family of problems called cold-induced sweating syndromes, which means the body sweats ...
Crisponi Syndrome
Crisponi syndrome is a very rare genetic disease. It starts in newborn babies. The baby has sudden strong muscle contractions, mainly in the face, neck, and upper body. These attacks can look like ...
Cold-Induced Sweating Syndrome (CISS)
Cold-induced sweating syndrome (CISS) is a very rare genetic disease. It mainly affects how the body controls temperature, sweating, face muscles, and bones. Children with this condition sweat a lot ...
