📂 Diseases
microcephalic primordial dwarfism, Alazami type — Definition
Alazami tipi mikrosefalik primordial cücelik / microcephalic primordial dwarfism, Alazami type
Alazami type microcephalus primordial dwarfism is a rare genetic disease, accompanied by pronounced growth retardation in the prenatal and postpartum period, microcephalus (the small of the central environment) and characteristic facial findings. The disease is caused by mutations in genes that play role in DNA repair and cell cycle and shows autozomal resesif inheritance. Clinically, severe size shortness, intelligence backrest, fine hair and eyebrows, dismorphic properties such as pronounced nasal root are observed. The diagnosis is subject to clinical findings and genetic tests; symptomatic support therapy is applied to be a specific treatment.
Frequently Asked Questions
❓ What is Alazami tipi mikrosefalik primordial cücelik?
Alazami tipi mikrosefalik primordial cücelik; alazami type microcephalus primordial dwarfism is a rare genetic disease, accompanied by pronounced growth retardation in the prenatal and postpartum period, microcephalus (the small of the central environment) and characteristic facial findings. The disease is caused by mutations in genes that play role in DNA repair and cell cycle and shows autozomal resesif inheritance. Clinically, severe size shortness, intelligence backrest, fine hair and eyebrows, dismorphic properties such as pronounced nasal root are observed. The diagnosis is subject to clinical findings and genetic tests; symptomatic support therapy is applied to be a specific treatment.
❓ What is microcephalic primordial dwarfism, Alazami type in Turkish?
The Turkish equivalent of "microcephalic primordial dwarfism, Alazami type" is Alazami tipi mikrosefalik primordial cücelik.
❓ Which medical field is Alazami tipi mikrosefalik primordial cücelik related to?
This term belongs to the Diseases category.