Bartter syndrome type 5 is a rare genetic disorder that affects the kidneys and causes them to excrete too much salt and potassium. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps reg...

Basal encephalocele is a rare birth defect in which the brain and its covering (meninges) protrude through an opening in the skull. It is caused by a failure of the skull bones to close properly during fetal development. Symptoms may include seizu...

Basel-Vanagaite-Smirin-Yosef syndrome (BVYS) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein CACNA1A, which is involved in calcium s...

Bathing suit ichthyosis is a rare skin disorder characterized by thick, scaly patches of skin that resemble the texture of a bathing suit. It is caused by a genetic mutation that affects the production of proteins in the skin. Symptoms of bathing ...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age a...

Bazex syndrome is a rare genetic disorder characterized by the premature onset of male pattern baldness, along with other skin abnormalities such as hyperpigmentation, seborrheic dermatitis, and acanthosis nigricans. It is caused by a mutation in ...

Bazex-Dupre-Christol syndrome is a rare genetic disorder characterized by the presence of multiple skin tumors, nail abnormalities, and hair loss. It is caused by a mutation in the XPD gene, which is responsible for the production of a protein inv...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Becker nevus syndrome is a rare skin disorder characterized by the presence of a large, dark, hairy patch of skin (known as a Becker nevus) on the back or chest. It is usually accompanied by other physical abnormalities, such as asymmetry of the f...

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features ...

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects the growth and development of a child. It is characterized by overgrowth of certain parts of the body, including the head, abdomen, and extremities. Other features of BWS ma...

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a microdeletion of the 11p15 region of the genome. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other tissues. It is a...