In simple words: Zellweger syndrome is a serious genetic condition where a baby's body can't break down certain fats correctly. This happens because of a problem with tiny parts of the cells called peroxisomes. Babies with this condition often have many health problems, including weak muscles, trouble eating, seizures, and problems with their liver, heart, and kidneys.They might also have unusual facial features and developmental delays. Doctors can diagnose Zellweger syndrome with special tests.Unfortunately, there's no cure, so treatment focuses on making the baby as comfortable as possible and helping with their symptoms.

Zellweger syndrome is the most severe manifestation of a group of disorders known as Zellweger spectrum, a peroxisome biogenesis disorder.It's an inborn error of metabolism caused by the body’s inability to break down long-chain fatty acids due to dysfunction in peroxisomes. Peroxisomes are small cellular structures containing enzymes necessary for this metabolic process. Symptoms typically appear in early infancy or childhood and can include muscle weakness, feeding difficulties, seizures, failure to thrive, vision and hearing loss, skeletal abnormalities (like unusual head size), encephalopathy, and distinct facial features such as a flattened face, broad nasal bridge, and large forehead.The disorder can also severely affect other organs like the liver, heart, and kidneys, potentially leading to death. Diagnosis is based on family history, symptoms, physical examination, and laboratory tests, including blood and urine analysis for fatty acids, genetic testing, and newborn screening. Treatment focuses on managing symptoms and providing supportive care.

Example 1: A newborn exhibits low muscle tone, unusual facial features (flattened face, broad nasal bridge), and seizures.Laboratory tests reveal elevated levels of very long-chain fatty acids. Genetic testing confirms a diagnosis of Zellweger syndrome., An infant experiences feeding difficulties, failure to thrive, and liver dysfunction. Imaging studies show brain abnormalities. Biochemical tests indicate a peroxisomal disorder, and Zellweger syndrome is diagnosed., A child presents with developmental delays, vision and hearing impairment, and skeletal abnormalities.After a thorough evaluation, including genetic testing, Zellweger syndrome is identified as the underlying cause.

Documentation for Zellweger syndrome should include details of the patient's clinical presentation, including specific symptoms (e.g., hypotonia, seizures, feeding difficulties), physical findings (e.g., facial dysmorphism, hepatomegaly), and results of laboratory and genetic tests confirming the diagnosis.Relevant imaging studies and specialist consultations should also be documented.