Nathalie syndrome is a rare genetic developmental defect during
embryogenesis
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm ...
disorder
and is thought to be hereditary.
In 1975 a physician described four siblings in a Dutch family with symptoms of the condition; the condition was named after the oldest sibling.
According to
Orphanet, the condition occurs in 1 in 1 million people.
Children with this condition appear younger than their age. Nathalie syndrome can cause disability and death around early or mid adulthood.
Sudden death,
cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. A ...
, and
heart failure
Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and symptoms caused by an impairment of the heart's blood pumping function. Symptoms typically include shortness of breath, excessive fatigue, a ...
have been reported in some cases.
References
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Genetic syndromes