Hereditary Ceruloplasmin Deficiency
Hereditary ceruloplasmin deficiency is a rare genetic disease. It is passed down in families. A small change in a single gene stops the body from making a normal amount of a protein called ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Aceruloplasminemia
Aceruloplasminemia is a very rare, inherited disease. In this disease, the body does not make a working protein called ceruloplasmin. Ceruloplasmin normally helps move iron safely in the body. It ...
Catalase Deficiency
Catalase deficiency means the body does not have enough of an enzyme called catalase. Catalase is a natural “safety” protein inside our cells. Its main job is to break down hydrogen peroxide (a ...
Types of Acatalasia
Acatalasia is a very rare health condition where the body has little or no catalase enzyme. Catalase is an important antioxidant enzyme that lives inside our cells, mainly in tiny sacs called ...
Acanthosis Nigricans Insulin Resistance Muscle Cramps Acral Enlargement Syndrome
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents ...
Holmes–Collins Syndrome
Holmes–Collins syndrome is an extremely rare genetic condition present from birth. Children have a combination of limb differences (most characteristically a missing or very under-developed shin ...
Absent Tibia Polydactyly Arachnoid Cyst Syndrome
Absent tibia–polydactyly–arachnoid cyst syndrome is an extremely rare genetic condition first described in 1995. Babies are born with a combination of problems that affect the legs, hands/feet, and ...
Absent Radius Anogenital Anomalies Syndrome
Absent radius–anogenital anomalies syndrome is a very rare, genetic condition present from birth. The key features are: (1) the radius bone in the forearm is missing or very under-developed on both ...
Baird Syndrome (Basan Syndrome)
Baird syndrome is a very rare genetic skin condition. Babies are born without the usual lines and ridges on the palms and soles, so they do not have fingerprints. Soon after birth, small white bumps ...
Absence of Fingerprints Congenital Milia Syndrome
Absence of fingerprints–congenital milia syndrome is a very rare inherited skin condition in which a person is born without the usual ridge patterns on the fingertips, palms, and soles (this is ...
Cleft Palate Coloboma Deafness Syndrome
Cleft palate–coloboma–deafness syndrome is a very rare genetic condition seen at birth. Children have three core findings: a cleft palate (an opening in the roof of the mouth), an eye ...
Abruzzo–Erickson Syndrome (AES
Abruzzo–Erickson syndrome (often shortened to AES) is an extremely rare, inherited condition that affects several parts of the body from birth. The most common signs are problems of the roof of the ...
Familial Dementia
Familial dementia means dementia that runs in a family. It happens because of changes in genes. These gene changes can be passed from a parent to a child. When a gene change is strong, a person can ...
Ablepharon-Macrostomia Syndrome (AMS)
Ablepharon-macrostomia syndrome is a very rare genetic condition present from birth. It mainly affects parts of the body that come from the outer layer of the embryo (the ectoderm)—especially the ...
Hydrocephalus Cleft Palate Joint Contractures Syndrome
Hydrocephalus-cleft palate-joint contractures syndrome is a very rare birth condition. Babies are born with three main problems: Hydrocephalus. This means extra fluid builds up inside the ...
Aase-smith syndrome
Aase-Smith syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or ...
Cholestasis-Edema Syndrome (Cholestasis-Lymphedema Syndrome)
Cholestasis-edema syndrome is a rare, inherited condition in which bile cannot flow out of the liver normally (cholestasis) and lasting swelling (lymphedema) develops—usually in the legs. Babies ...
AA- Amyloidosis
AA-amyloidosis is a disease where an abnormal protein called AA (amyloid A) slowly builds up in body tissues and organs. This protein comes from another protein in the blood named serum amyloid A ...
Von Hippel-Lindau (VHL)
Von Hippel-Lindau (VHL) disease is a rare genetic condition that makes the body grow tumors and fluid-filled cysts in many organs. Most of the tumors are non-cancerous, but some, such as kidney ...
Infantile Refsum Disease
Infantile Refsum disease is a rare, inherited disorder of peroxisome formation. Peroxisomes are tiny structures inside cells that process fats and detoxify harmful substances. In this condition, ...
