1. Developmental Delays
• Late milestones: Children may sit, walk, or talk much later than usual.
• Learning difficulties: Most have moderate to severe intellectual disability.
• Muscle weakness: Often described as “floppy” or low muscle tone (hypotonia).
• Speech delay: Some children may only babble or use a few words.
• Autistic-like behaviors: Poor eye contact, limited social interaction.
2. Facial and Physical Features
Distinctive facial appearance, which may include droopy eyelids (ptosis), wide or narrow spacing between the eyes, prominent groove between nose and upper lip (philtrum), lower lip that sticks out, open or tented mouth, small or pointed chin, and thick or joined eyebrows. Many children are smaller than average in height and weight. Some show a decrease in head growth over time.
3. Liver and Digestive Issues
• Itching: Severe and persistent itching (pruritus), often hard to treat.
• High bile acids: Blood tests show elevated bile acids, but other liver tests may be normal.
• Enlarged liver: Seen in some children.
• Gallstones: Can occur even in young children.
• Feeding problems: Difficulty eating or needing feeding support.
• Digestive issues: Diarrhea, constipation, or poor absorption of fats.
• Poor weight gain: Likely due to trouble absorbing nutrients.
4. Other Possible Symptoms
• Seizures: Some children may have epilepsy.
• Eye movement problems: Like strabismus (crossed eyes).
• Behavioral challenges: Including repetitive movements or self-injury.
WDR83OS