PIK3CA-related overgrowth spectrum (PROS) can have a huge array of symptoms. That's because PROS isn’t just one thing. It’s a group of several rare disorders. What they have in common is that they make some parts of the body grow too much or in an unusual way.

A person’s signs and symptoms depend on what type of PROS they have and which parts of the body are affected. Everyone with PROS is different. One child may have overgrowth on one side of the face and body, along with bumpy spots on the skin and changes to the feet and toes.  Another may have one leg that’s longer than the other or a very long toe, while a third person may have lumpy masses on their torso, unusual blood vessels, patches on their skin, and a curved spine (scoliosis).

Depending on the disorder, PROS usually has some combination of these symptoms:

  • Overgrowth in at least one body part
  • A bigger brain or part of the brain
  • Fatty lumps or masses
  • Changes in bones
  • Changes in fingers or toes
  • Dark patches on the skin
  • Blood vessels that grow unusually (called vascular malformations) and may be more likely to have blood clots
  • Low muscle tone
  • Seizures
  • Developmental delays or intellectual differences

Symptoms by PIK3CA-Related Overgrowth Spectrum (PROS) Type

Doctors diagnose PROS syndromes based on the symptoms. For example:

Children with CLOVES syndrome are born with blood vessel changes that look like dark patches on the skin and unusual fingers and toes. Other symptoms can include:

  • Fatty growths
  • Skin growths or patches
  • Bone changes such as scoliosis
  • Large fingers or toes
  • Missing or small kidneys
  • Uneven growth of limbs or other body parts

Fibroadipose hyperplasia is similar to CLOVES syndrome. Some doctors think they may be different forms of the same syndrome. Symptoms include:

  • Patchy overgrowth of a limb or other body part
  • Fatty overgrowth
  • Unusual blood vessel growth (vascular malformations) 

Megalencephaly-capillary malformation (MCAP) syndrome affects the brain and many other body parts. Most children with MCAP are born with an unusually large head. Sometimes, the head grows too much during the first year. There can be a large range in how many symptoms a child has and how severe they are. They may include:

  • Large brain or larger half of brain
  • Changes in the face, such as full cheeks and lips
  • Changes to small blood vessels (capillaries) that can make skin look discolored, most often on the face
  • Low muscle tone
  • Seizures
  • Intellectual disability
  • Speech delay
  • Fused fingers or toes
  • Extra fingers or toes
  • Extra flexible joints
  • Changes to the heart structure
  • Changes in the heart rhythm

Symptoms of hemimegalencephaly can happen alone or with other syndromes and include:

  • Changes in one side of the brain
  • Large, uneven head
  • Seizures
  • Partial paralysis
  • Developmental delay

Symptoms of hemihyperplasia-multiple lipomatosis (HHML) syndrome start in childhood and include:

  • Unusual or uneven growth of arms or legs
  • Fat masses under the skin
  • Unusual blood vessel growth (vascular malformations)

The main symptom of facial infiltrating lipomatosis is overgrowth of one side of the face. Other signs include:

  • Benign tumors on nerve tissue, often on the tongue or lips
  • Enlarged tongue
  • Enlarged bones
  • Permanent teeth that come out early

PROS may get worse over time. Depending on which parts of the body are affected, your child may have a hard time walking or doing other everyday activities. But there are treatments that can help you manage your child’s condition and improve their daily life. Work with your child’s doctors and other specialists to understand the best ways to treat their symptoms.

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