Schinzel-Giedion Syndrome
Description
Schinzel-Giedion Syndrome (SGS) is a rare genetic disorder that affects multiple parts of the body. Individuals with SGS typically have a distinctive set of features, including craniofacial abnormalities, skeletal problems, and developmental delays. This comprehensive guide explores the causes, symptoms, diagnosis, management, and resources for individuals and families affected by SGS.
Genes Involved
Genes Involved in Schinzel-Giedion Syndrome:
- CDC73 Gene: Mutations in the CDC73 gene are the primary cause of Schinzel-Giedion Syndrome.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Schinzel-Giedion Syndrome:
- Craniofacial Features: Prominent forehead, wide-set eyes, small chin, low-set ears, and a characteristic facial appearance.
- Skeletal Abnormalities: Short stature, unusual hand and foot development, and a distinctive shape to the chest and spine.
- Developmental Delays: Cognitive impairments, speech difficulties, and motor delays are common.
- Other Features: Heart defects, kidney problems, and gastrointestinal issues may occur.
- Specific Signs: Dental anomalies, such as missing or malformed teeth, and skin abnormalities, such as dry, scaly skin.
Causes
Causes of Schinzel-Giedion Syndrome:
- Genetic Mutations: Schinzel-Giedion Syndrome is caused by mutations in the CDC73 gene. This gene provides instructions for making a protein that plays a role in cell growth and development.
- Inheritance Pattern: The CDC73 gene mutation is typically inherited in an autosomal dominant manner. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop SGS.
Inheritance/recurrence risk
Inheritance and Recurrence Risk:
- Autosomal Dominant Inheritance: If one parent has the CDC73 gene mutation, there is a 50% chance that their child will inherit the mutation and develop SGS.
- De Novo Mutation: In some cases, the mutation may occur spontaneously in the child‘s DNA and not be inherited from either parent.
