What you may notice
Symptoms can overlap with other conditions and vary between people.
- Broad thumbs or big toes
- Short stature
- Developmental delay
- Distinctive facial features
Understanding care
Clinical care may include genetic assessment and tailored developmental, sensory and organ monitoring. A qualified clinician decides which investigations and options fit the individual situation.
When to seek help
Arrange specialist assessment for growth, feeding or developmental concerns. Breathing difficulty, loss of responsiveness or new seizures requires urgent care rather than a community review.
For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.
Read the medical sources
These sources support the educational article and offer more detail.
Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.
