What is Weaver's Syndrome?

Also known as Weaver-Smith Syndrome. First described in 1974 by Weaver et al.

Short Description:

(Taken from: http://www.whonamedit.com/synd.cfm/1360.html)

A syndrome of large birth size, accelerated growth and skeletal maturation, associated with limb, craniofacial, neurological, and other abnormalities. Craniofacial anomalies consist of a broad forehead, flat occiput, large ears, hypertelorism, long philtrum, and relative micrognathia. Limb abnormalities include prominent finger pads, camptodactyly, broad thumbs, thin and deep-set nails, clinodactyly, limited elbow and knee extension, wide distal long bones, and foot deformities (clubfoot, pes calcaneovalgus, and metatarsus adductus). Hypertonia, hypotonia, psychomotor retardation, and hoarse, low-pitched voice, excess loose skin, umbilical and inguinal hernia, and inverted nipples are associated. The aetiology is unknown.

Statistics:

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