Phelan-McDermid syndrome (22q13.3 deletion syndrome) is a rare genetic disorder that can cause medical, intellectual and behavioral concerns. Symptoms often appear early in life and range from mild to severe. They include muscle weakness, seizures, speech and developmental delays, autism spectrum disorder and certain physical features.

The signs and symptoms of Phelan-McDermid syndrome vary widely. They may be mild, moderate or severe. They may appear at birth, during infancy or in early childhood. And they may be 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 issues like frequent nausea and vomiting or gastroesophageal reflux disease.

Many people with Phelan-McDermid syndrome have autism spectrum disorder, which may cause certain behaviors. Your child may:

  • Avoid eye contact.
  • Be anxious in social situations.
  • Obsessively chew things that aren’t food.
  • Be oversensitive to touch.

People with 22q13.3 deletion syndrome often have particular physical features. Your child may have:

  • 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 the disorder may involve congenital heart conditions and kidney problems. Rarely, people with Phelan-McDermid syndrome have arachnoid cysts (fluid-filled sacs on their brain). They may cause pressure in your child's head, leading to irritability, crying, headaches and epilepsy (seizures).


Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When  is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms

Few homoeopathic medicine can be thought of in the treatment of are:

silicea, calcarea carb, gelsemium, argentums nitricum, etc.