WEAVER SYNDROME
 
PEDBASE.org - The Pediatric Database - Detailed information of WEAVER SYNDROME

 

WEAVER SYNDROME

 

DEFINITION:

An early overgrowth syndrome of unknown etiology associated with characteristic neurologic, craniofacial, and musculoskeletal manifestations.

EPIDEMIOLOGY:

  • incidence: rare (27 cases reported)
  • age of onset:
    • newborn -> infancy (excessive growth first noted)
  • risk factors:
    • sporadic
    • M > F (3:1)

PATHOGENESIS:

1. Background

  • unknown etiology
  • syndrome first described in 1974 by Weaver et al.

CLINICAL FEATURES:

1. Endocrine Manifestations

  • excessive postnatal growth (100%)
  • excessive prenatal growth (72%)
  • excessive appetite (71%)
  • thin/fine scalp hair (67%)

2. Neurologic/Behavioural Manifestations

  • gross motor developmental delay (100%)
  • hoarse and/or low-pitched cry (90%)
  • mild -> profound mental retardation or developmental delay (80%)
  • hypertonia (68%)
  • spasticity (356%)
  • others: hypotonia, seizures

3. Craniofacial Manifestations

  • micrognathia (100%)
  • ocular hypertelorism (96%)
  • large, low-set ears (96%)
  • increased bifrontal diameter (95%)
  • telecanthus (95%)
  • others: long and accentuated philtrum, macrocephaly, dysplastic ears, strabismus, depressed nasal bridge, down-slanting palpebral fissures, flat occiput, epicanthal folds

4. Musculoskeletal Manifestations

  • prominent finger pads (92%)
  • dysplastic nails (85%)
  • limited extension of hips, knees, ankles, elbows, or wrists (83%)
  • hyperextensible fingers (80%)
  • broad thumbs (70%)
  • others: camptodactyly, talipes equinovarus, scoliosis or kyphosis, tall stature

5. Other Manifestations

  • umbilical hernia (100%)
  • inguinal hernia (100%)
  • excessive and loose skin of the neck or extremities (93%)
  • cryptorchidism (60%)
  • hyperbilirubinemia (50%)

INVESTIGATIONS:

1. Skeletal X-Rays

  • increased carpal bone age (94%)
  • flared metaphyses (86%)
  • advanced general osseous maturation (80%)
  • mottled or irregular epiphyses (44%)

2. Endocrine

  • no consistent abnormalities noted

MANAGEMENT:

1. Supportive

  • no treatment available for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Neurology, Orthopedics, ENT, OT, PT
    • genetic counselling

2. Prognosis

  • normal life span with normal adult height

 

Pediatric Database - WEAVER SYNDROME

 

Pediatric Organization - Pedbase [at] Gmail.com

 
1994 -2007 Pedbase.org 

Powered by Database of Pediatrics- WEAVER SYNDROME