What is Wiedemann-Steiner Syndrome?
Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability.
Understanding Wiedemann-Steiner Syndrome
Wiedemann-Steiner syndrome is a seldom-encountered genetic disorder that affects various aspects of a person's development and physical appearance. It is recognized by a specific set of clinical characteristics that help in its diagnosis.
Key Characteristics
Individuals with Wiedemann-Steiner syndrome typically present with a combination of distinct features, which can vary in severity among affected individuals. These include:
- Distinctive facial features: Often described as unique to the syndrome.
- Hairy elbows: A notable and characteristic physical sign, sometimes referred to as hypertrichosis cubiti.
- Short stature: Growth may be significantly impacted, leading to a shorter height compared to peers.
- Intellectual disability: Varying degrees of cognitive impairment may be present, affecting learning and developmental milestones.
Genetic Basis and Inheritance
This condition arises from specific changes or mutations within the KMT2A gene, which is also known as the MLL gene. The KMT2A gene plays a crucial role in regulating gene expression, which is essential for normal development.
Wiedemann-Steiner syndrome is inherited in an autosomal dominant manner. This means that only one copy of the altered KMT2A gene in each cell is sufficient to cause the condition. In most cases, the mutation occurs spontaneously (de novo) in the affected individual, meaning it is not inherited from a parent. However, if a parent has the condition, there is a 50% chance of passing it on to each child.
Summary of Wiedemann-Steiner Syndrome
To provide a clear overview, here is a summary of the key aspects of Wiedemann-Steiner syndrome:
| Aspect | Description |
|---|---|
| Condition Type | Rare genetic disorder |
| Primary Symptoms | Distinctive facial features, hairy elbows, short stature, intellectual disability |
| Genetic Cause | Mutations in the KMT2A (also known as MLL) gene |
| Inheritance Pattern | Autosomal dominant (often de novo mutations) |
