Weaver-Williams syndrome (Weaver-Smith syndrome) is a very rare birth defect syndrome discovered in 1974 by David D. Weaver. What are the causes of this rare disease? What are the symptoms of Weaver syndrome?

Weaver syndrome(Weaver syndrome - WVS) is a multiple systemic rare disease.

Patients are tall, have a specific facial appearance (hypertelorism, retrognation) and a variable intellectual disability.

Additional symptoms may include camptodactyly, soft, pasty skin, umbilical hernia, and a low, hoarse voice.
Only about 50 cases of Weaver syndrome have been reported. Exact prevalence and morbidity data are not available.

Weaver syndrome: causes

The syndrome is caused by a mutation on chromosome 7. It can also be found on chromosome 5.

In most cases, the disease occurs sporadically - no other patients with this syndrome in the family. Several cases of familial, autosomal dominant inheritance have been reported.

Weaver syndrome: symptoms

The characteristics of Weaver syndrome are:

  • facial dysmorphic features such as: small chin, wide forehead, hypertelorism (wide-set eyes), long nasal groove, large ears
  • macrocephaly
  • camptodactyly (finger flexion contracture)
  • bone malformations, foot deformities, short ribs
  • high birth weight, accelerated growth
  • neurological disorders: epilepsy, speech disorders, intellectual disability
  • psychomotor delay
  • hypertonia / hypotonia
  • hoarseness, deep, low voice
  • umbilical hernia and inguinal hernia
  • excess loose skin

Weaver syndrome: diagnosis

The doctor suspects the disease on the basis of the characteristic dysmorphic features.

Imaging tests confirm the diagnosis: ultrasound of the kidneys, magnetic resonance imaging of the brain.

There is an accelerated bone age from birth. The patient should be under the care of specialists in orthopedics, paediatrics, neurology and genetic counseling.

Weaver syndrome: treatment

Weaver syndrome is an incurable genetic disease. However, it may turn outnecessary surgical intervention to correct skeletal defects and rehabilitation to maintain adequate muscle tone.

With proper management and treatment, the lifespan of patients is not shortened.

Their growth in adulthood is also within the normal range.

Weaver syndrome is often confused with Sotos syndrome because of their common features, such as:

  • rapid growth
  • advanced bone age
  • developmental delay
  • macrocephaly

Both diseases are mediated by a mutation in the NSD1 gene, which encodes a protein involved in normal growth and development.

Also read:

  • Auto-brewery complex - when the body produces alcohol
  • Sotos syndrome (cerebral gigantism)
  • Williams syndrome (elven children): causes, symptoms

Category:

Genetic diseases