Kilquist syndrome (KILQS) is a rare, inherited condition affecting multiple body systems. It is characterized by a specific set of challenges that typically appear at birth.
Understanding Kilquist Syndrome
Kilquist syndrome is an autosomal recessive disorder. This means that for a child to inherit the condition, they must receive two copies of the mutated gene, one from each parent. Parents who carry only one copy of the mutated gene do not show symptoms but are considered carriers.
Key Features of Kilquist Syndrome
The syndrome is defined by a triad of issues:
- Neurologic dysfunction:
- Hypotonia, or decreased muscle tone, is common in infants. This can lead to difficulties with movement and holding the head up.
- Gastrointestinal dysfunction:
- Affected infants often have difficulties with feeding.
- Secretory dysfunction:
- The specific nature of this dysfunction isn't detailed in this particular reference. Further research is needed for specifics related to the type of secretion and related issues in KILQS.
- Other Features:
- Individuals often display mild dysmorphic features, which are minor differences in physical appearance.
- Sensorineural hearing loss is also a characteristic of this disorder, impacting the inner ear.
How Kilquist Syndrome Presents
Newborns with Kilquist syndrome typically present with:
- Hypotonia (low muscle tone)
- Feeding difficulties
- Mild dysmorphic features
- Sensorineural hearing loss
Summary of Kilquist Syndrome
| Feature | Description |
|---|---|
| Inheritance | Autosomal recessive |
| Neurologic | Hypotonia (low muscle tone) |
| Gastrointestinal | Feeding difficulties |
| Secretory | Dysfunction (unspecified in this reference, requiring further study) |
| Other Features | Mild dysmorphic features; sensorineural hearing loss |
| Presentation at Birth | Hypotonia, feeding difficulties, mild dysmorphic features, sensorineural hearing loss |
It is crucial to note that this information is based on the provided reference. More detailed information on specific secretory issues, long-term prognosis and the genes implicated in the syndrome may require further research from other resources.
