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Which are the symptoms of Weaver Syndrome?

See the worst symptoms of affected by Weaver Syndrome here

Weaver Syndrome symptoms

Weaver syndrome, also known as Weaver-Smith syndrome, is a rare genetic disorder characterized by overgrowth and developmental delays. It was first described in 1974 by Dr. David Weaver and Dr. Evan Smith. This condition primarily affects physical growth and development, leading to distinctive facial features, skeletal abnormalities, and intellectual disabilities.



Symptoms of Weaver Syndrome



The symptoms of Weaver syndrome can vary in severity from person to person. However, there are several key features commonly associated with this condition:



1. Overgrowth



Excessive growth is a hallmark characteristic of Weaver syndrome. Infants with this condition are often larger than average at birth and continue to grow rapidly during childhood. This overgrowth primarily affects the height and weight of individuals, resulting in a tall stature.



2. Facial Features



Weaver syndrome is typically associated with distinct facial features, including:




  • Wide forehead: Individuals with Weaver syndrome often have a broad forehead.

  • Widely spaced eyes: The eyes may be set further apart than usual.

  • Downslanting palpebral fissures: The outer corners of the eyes may point downward.

  • Full cheeks: The cheeks may appear round and full.

  • Prominent chin: The chin may be more pronounced.



3. Skeletal Abnormalities



Weaver syndrome can affect the skeletal system, leading to various abnormalities, such as:




  • Advanced bone age: X-rays may reveal that the bones are more developed than expected for the individual's age.

  • Joint stiffness: Some individuals may experience limited joint mobility.

  • Camptodactyly: This refers to a fixed flexion deformity of the fingers.

  • Flat feet: The arches of the feet may be flattened.



4. Developmental Delays



Individuals with Weaver syndrome often experience developmental delays in various areas, including motor skills, speech and language, and cognitive abilities. These delays can range from mild to severe, impacting an individual's overall intellectual functioning.



5. Other Features



Additional features that may be present in individuals with Weaver syndrome include:




  • Intellectual disabilities: Most individuals with Weaver syndrome have some degree of intellectual impairment.

  • Behavioral issues: Some individuals may exhibit behavioral problems, such as hyperactivity or attention-deficit/hyperactivity disorder (ADHD).

  • Speech difficulties: Speech may be delayed or difficult to understand.

  • Hearing loss: Some individuals may experience hearing impairment.

  • Seizures: In rare cases, seizures may occur.



It is important to note that not all individuals with Weaver syndrome will exhibit every symptom mentioned above. The severity and combination of symptoms can vary, making each case unique.



If you suspect that you or your child may have Weaver syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management.


Diseasemaps
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Overgrowth
Troubles with learning
Doughy-skin
Large ears

Posted Aug 26, 2021 by Tineke 700

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