Diseases title

Weaver syndrome )

Orpha Number: 3447
Camptodactyly - overgrowth - unusual facies

Weaver syndrome is an overgrowth syndrome characterized by accelerated osseous maturation associated with craniofacial, limb, neurological and other anomalies. Craniofacial manifestations consist of macrocephaly, broad forehead, hypertelorism, telecanthus, large and low-set ears, long and prominent philtrum and relative micrognathia. Limb anomalies include prominent finger pads, thin and deeply-set nails, camptodactyly, wide distal long bones, foot deformities, and broad thumbs. Psychomotor retardation, hoarse and low-pitched voice, hypertonia, umbilical and inguinal hernia, and excess loose skin are also associated. This syndrome is extremely rare as only about 30 cases have been reported so far. Most of them are sporadic, nevertheless two families with dominant autosomal transmission have been described. Mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1) which have been associated with Sotos syndrome (another overgrowth syndrome) have been found in 3 patients with Weaver syndrome (among the 7 tested). These mutations are located in one small part of the gene when they are associated with Weaver syndrome. The exact pathophysiology and the etiology of other cases remain unknown. Prognosis is variable, most patients have normal life span and their adult height is normal. No curative treatment is available, however multidisciplinary (i.e., neurological, pediatric, orthopedic and psychomotor care, genetic counseling, ...) management must be adapted to each case.
source: Orphanet