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Thyroid hormone deficiency present at birth that can lead to growth failure and intellectual disability. Treatment includes thyroid hormone replacement therapy.

A group of disorders that cause red blood cells to become misshapen and break down. Treatments include pain management, blood transfusions, and sometimes bone marrow transplants.

A genetic disorder that impairs the body’s ability to make blood clots, a process needed to stop bleeding. Common treatments include regular injections of clotting factor or plasma.

A birth defect of the diaphragm that allows abdominal organs to move into the chest, which can interfere with lung development. Treatments include surgical repair of the hernia and respiratory support.

An inherited metabolic disorder where the body can’t break down phenylalanine, leading to intellectual disability if untreated. Treatment primarily involves a special diet low in phenylalanine.

A group of genetic diseases that cause progressive weakness and loss of muscle mass. Treatments include physical therapy, medications, assistive devices, and surgical interventions.

A range of neurodevelopmental conditions characterized by challenges with social skills, repetitive behaviors, speech, and nonverbal communication. Treatments include behavioral therapy, speech therapy, and occupational therapy.

A genetic condition causing intellectual disability, behavioral and learning challenges, and various physical characteristics. There is no cure, but therapy includes educational interventions, behavioral therapy, and medications.

A condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain, potentially causing increased intracranial pressure and enlargement of the head. Treatment is usually surgical, typically involving the placement of a shunt system.

A hereditary disorder affecting the exocrine glands, causing the production of abnormally thick mucus, leading to the blockage of pancreatic ducts, intestines, and bronchi. Treatments include chest physiotherapy, medications, and sometimes lung transplantation.

A neural tube defect where there is incomplete closing of the backbone and membranes around the spinal cord. Treatments include surgery, physiotherapy, and assistive devices.

A genetic disorder caused by a partial or full third copy of chromosome 21. Common treatments include educational support, physical therapy, and speech therapy.

A range of birth defects that affect the normal workings of the heart, ranging from simple to complex. Treatments can include medication, catheter procedures, surgery, and heart transplants.

A fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. There is no cure, but supportive care can manage symptoms.