GOLTZ SYNDROME Meaning and
Definition
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Goltz syndrome, also known as Focal Dermal Hypoplasia (FDH), is a rare genetic disorder characterized by a wide range of developmental abnormalities that primarily affect the skin, but can also affect other body systems. It is named after Dr. Robert Goltz who first described the condition in 1962.
Individuals with Goltz syndrome often exhibit distinctive skin manifestations, such as thin, streaky patches of hypoplastic or atrophic skin. These skin abnormalities may be accompanied by the presence of papillomas or small growths, and can be seen anywhere on the body, including the eyes, hands, and feet. Other common features associated with Goltz syndrome include digital anomalies (abnormalities of the fingers and toes), skeletal abnormalities, such as limb defects or asymmetry, and ocular manifestations like coloboma or other eye malformations.
Furthermore, individuals with Goltz syndrome may also experience a variety of systemic abnormalities, which can affect the growth and development of various organs and systems, such as the teeth, hair, nails, and the gastrointestinal and cardiovascular systems.
Goltz syndrome is caused by mutations in the PORCN gene, which is responsible for producing a protein critical for the development and function of many tissues in the body. This condition is inherited in an X-linked dominant manner, meaning that it primarily affects females and can be passed on from an affected mother to her children. However, cases of sporadic or random mutations can also occur.
Treatment for Goltz syndrome is primarily focused on managing and addressing the specific symptoms and complications that may arise in affected individuals. Comprehensive, interdisciplinary care involving various healthcare specialists is often required to ensure the best possible outcomes for those with Goltz syndrome.
Common Misspellings for GOLTZ SYNDROME
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Etymology of GOLTZ SYNDROME
The term "Goltz syndrome" is named after Dr. Robert Goltz, who first described the condition in 1962. However, the syndrome is also commonly referred to as "focal dermal hypoplasia" (FDH) or "Goltz-Gorlin syndrome" to acknowledge the contributions of Dr. Robert Gorlin, who extensively researched and published about the disorder.
The word "syndrome" originates from the Greek "sundromē", which means "running together" or "concurrence of symptoms". Thus, it is used to describe a collection of signs and symptoms that consistently occur together and characterize a specific medical condition.
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