A genital, chromosomal disease, 22q13.3 deletion.Most cases happens randomly, aren’t inherited.
1% of the autistic patients?
Signs and symptomsVary widely, from mild, moderate or severe.
Appear at birth, during infancy or in early childhood.
Physical, behavioral, intellectual or a combination.
• Developmental delay (not hitting milestones at expected times, such as rolling over, sitting up or walking).
• High pain tolerance.
• Muscle weakness (hypotonia).
• Speech problems (absent or delayed ability to talk).
• Sleep disorders.
• Tendency to sweat less than normal, which can lead to overheating and dehydration.
• Trouble eating or swallowing.
• Gastrointestinal: frequent nausea, vomiting, reflux disease.
Autism spectrum disorder • Avoid eye contact.
• Be anxious in social situations.
• Obsessively chew things that aren’t food.
• Be oversensitive to touch.
Physical • Deep-set eyes.
• Drooping eyelids (ptosis).
• Ears that are large or stick out.
• Fusion of their second and third toes (syndactyly).
• Large, fleshy hands or feet.
• A long, narrow head.
• A pointed chin.
• Small or abnormal toenails.
Sometimes • Congenital heart conditions.
• Kidney problems.
• Arachnoid cysts on their brain, with pressure: irritability, crying, headaches and epilepsy (seizures).