Pallister W syndrome is a rare genetic disorder characterized by a combination of multiple congenital anomalies and distinct facial features. It is classified as a multiple congenital anomalies/dysmorphic syndrome.
Key Characteristics of Pallister W Syndrome
Based on available information, Pallister W syndrome presents with several notable features:
- Rarity: It is considered a rare syndrome.
- Intellectual Disability: Individuals typically exhibit moderate to severe intellectual disability.
- Neurologic Manifestations: The syndrome includes various neurologic signs and symptoms, which may involve:
- Seizures
- Spasticity (muscle stiffness)
- Strabismus (crossed eyes)
- Dysmorphic Facial Features: There are characteristic facial anomalies that help define the syndrome. These features include:
- Broad forehead
- Hypertelorism (widely spaced eyes)
- Downslanting palpebral fissures (eyelid openings that angle downwards)
Summary Table of Features
| Feature | Description |
|---|---|
| Classification | Rare multiple congenital anomalies/dysmorphic syndrome |
| Intellectual Ability | Moderate to severe intellectual disability |
| Neurologic Signs | Seizures, Spasticity, Strabismus |
| Facial Appearance | Broad forehead, Hypertelorism, Downslanting palpebral fissures |
Understanding Pallister W syndrome requires recognizing this specific cluster of developmental, neurological, and physical characteristics. As a rare condition, diagnosis is typically made by a clinical geneticist based on physical examination and assessment of symptoms.
