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Featured
Mast Cell Activation Syndrome (MCAS)
Mast Cell Activation Syndrome (MCAS)

Mast cell activation syndrome (MCAS) is a condition in which mast cells — a type of immune cell — release excessive or inappropriate chemical mediators, leading to widespread inflammatory symptoms.

Ehlers-Danlos Syndrome (EDS)
Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect collagen — the protein that provides structure and support to skin, joints, blood vessels, and internal organs.

Kabuki Syndrome
Kabuki Syndrome

Kabuki syndrome is a rare genetic condition that affects multiple body systems. It is commonly associated with distinctive facial features, developmental delay, and congenital anomalies.

Pitt-Hopkins Syndrome
Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome is a rare genetic disorder caused by changes in the TCF4 gene. It affects neurodevelopment and can impact breathing patterns, mobility, communication, and cognition.

Prader-Willi Syndrome
Prader-Willi Syndrome

Prader-Willi syndrome is a complex genetic condition affecting metabolism, growth, appetite regulation, cognition, and behavior. It is caused by abnormalities involving chromosome 15.

Angelman Syndrome
Angelman Syndrome

Angelman syndrome is a rare genetic neurodevelopmental disorder that affects the nervous system. It is typically characterized by developmental delay, minimal or absent speech, difficulty with coordination and balance (ataxia), seizures, and a uniquely joyful and social personality.

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