📂 Diseases
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome — Definition
Kısa boylu-optik atrofi-Pelger-HuC+t anomalisi sendromu / short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
This syndrome is a rare genetic disease characterized by short size, optical nerve atrophy (division nerve degeneration) and Pelger-HuC+t anomaly ( hyposegmentation in the netrophil nucleus). In patients there is a length shortness and progressive vision loss from birth. Pelger-HuC+t anomalies manifest themselves abnormally in the core morphology in leukocytes, and usually show autozomal resesif inheritance.
Frequently Asked Questions
❓ What is Kısa boylu-optik atrofi-Pelger-HuC+t anomalisi sendromu?
Kısa boylu-optik atrofi-Pelger-HuC+t anomalisi sendromu; this syndrome is a rare genetic disease characterized by short size, optical nerve atrophy (division nerve degeneration) and Pelger-HuC+t anomaly ( hyposegmentation in the netrophil nucleus). In patients there is a length shortness and progressive vision loss from birth. Pelger-HuC+t anomalies manifest themselves abnormally in the core morphology in leukocytes, and usually show autozomal resesif inheritance.
❓ What is short stature-optic atrophy-Pelger-HuC+t anomaly syndrome in Turkish?
The Turkish equivalent of "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" is Kısa boylu-optik atrofi-Pelger-HuC+t anomalisi sendromu.
❓ Which medical field is Kısa boylu-optik atrofi-Pelger-HuC+t anomalisi sendromu related to?
This term belongs to the Diseases category.