📂 Diseases
Coffin-Siris syndrome 4 — Definition
Coffin-Siris sendromu 4 / Coffin-Siris syndrome 4
Coffin-Siris syndrome is a genetic disease, which is rare, manifests itself with mental development retardation, characteristic facial characteristics and a fifth finger (push finger) nail hypoplasia or absence. This syndrome is caused by mutations in SMARCA4 gene and indicates autosomal dominant inheritance. Clinical findings can also include nutrition power, repetitive infections and skeleton anomalies.
Frequently Asked Questions
❓ What is Coffin-Siris sendromu 4?
Coffin-Siris sendromu 4; coffin-Siris syndrome is a genetic disease, which is rare, manifests itself with mental development retardation, characteristic facial characteristics and a fifth finger (push finger) nail hypoplasia or absence. This syndrome is caused by mutations in SMARCA4 gene and indicates autosomal dominant inheritance. Clinical findings can also include nutrition power, repetitive infections and skeleton anomalies.
❓ What is Coffin-Siris syndrome 4 in Turkish?
The Turkish equivalent of "Coffin-Siris syndrome 4" is Coffin-Siris sendromu 4.
❓ Which medical field is Coffin-Siris sendromu 4 related to?
This term belongs to the Diseases category.