Acquired prothrombin deficiency is a rare bleeding disorder caused by a deficiency of the clotting factor prothrombin. It is caused by a decrease in the production of prothrombin, which is a protein involved in the clotting process. Symptoms of ac...

Acquired pseudoxanthoma elasticum (APXE) is a rare genetic disorder that affects the elastic fibers in the skin, eyes, and cardiovascular system. It is characterized by yellowish papules on the skin, angioid streaks in the eyes, and calcification ...

Acquired purpura fulminans is a rare, life-threatening condition that is characterized by the sudden onset of large, painful, purple-colored skin lesions. It is caused by a severe reaction to an infection, usually with a bacteria or virus, and can...

Acquired schizencephaly is a rare neurological disorder that is caused by damage to the brain. It is characterized by abnormal clefts or “slits” in the brain’s cerebral cortex. These clefts can cause a variety of neurological symptoms, inclu...

Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder caused by an underlying medical condition, such as cancer, autoimmune disease, or certain medications. It is characterized by a deficiency in von Willebrand factor (VWF), a protei...

Acral peeling skin syndrome (APSS) is a rare genetic disorder characterized by recurrent episodes of peeling of the skin on the palms of the hands and soles of the feet. It is caused by mutations in the TGM5 gene, which is responsible for producin...

Acral persistent papular mucinosis (APM) is a rare skin disorder characterized by the presence of small, firm, skin-colored papules on the palms and soles. The papules are usually asymptomatic, but may be itchy or tender. The cause of APM is unkno...

Acral self-healing collodion baby is a type of topical treatment used to treat skin conditions such as eczema, psoriasis, and other dry skin conditions. It is a combination of collodion and other ingredients that help to soothe and heal the skin. ...

Acro-renal-mandibular syndrome is a rare genetic disorder characterized by abnormalities of the head and face, kidneys, and hands and feet. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include cleft lip and p...

Acro-renal-ocular syndrome is a rare genetic disorder that affects the kidneys, eyes, and extremities. It is caused by a mutation in the PAX2 gene and is characterized by abnormalities in the kidneys, eyes, and extremities. Symptoms may include ki...

Acrocallosal syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is characterized by the presence of extra fingers and toes, a wide space between the eyes, and a wide head. Other features m...

Acrocallosal Syndrome, Schinzel Type is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by a mutation in the NDE1 gene. Symptoms of this disorder include intellectual disability, seizures...

Acrocapitofemoral dysplasia is a rare genetic disorder that affects the development of the bones in the arms and legs. It is characterized by short stature, shortening of the arms and legs, and malformation of the shoulder and hip joints. Other fe...

Acrocardiofacial syndrome (ACFS) is a rare genetic disorder characterized by a combination of physical features, including a distinctive facial appearance, heart defects, and skeletal abnormalities. It is caused by a mutation in the gene encoding ...

Acrocephalopolydactyly is a rare genetic disorder that affects the development of the head, face, and hands. It is characterized by an abnormally shaped head, extra fingers and toes, and facial abnormalities. It is caused by a mutation in the GLI3...

Acrocraniofacial dysostosis is a rare genetic disorder that affects the development of the skull, face, and hands. It is characterized by a small head, a flat face, and abnormally shaped hands and fingers. Other features may include a cleft palate...