Weaver syndrome

The Weaver syndrome or Weaver- Smith syndrome is a congenital disorder with increased body growth ( macrosomia ) and usually mild intellectual disability. Sufferers wear characteristic facial features. Boys are 2-3 times more often affected than girls. In adulthood, the anomalies are less pronounced. The life expectancy of patients is not adversely affected by the malformation.

The American pediatrician and geneticist David Weaver described the disease in 1974 in the Journal of Pediatrics. The Weaver syndrome is listed in ICD- 10 together with the Sotos and the Wiedemann - Beckwith syndrome under a common key ( see box ).

Diagnosis

Already in prenatal ultrasound may be recognizable macrosomia. Postnatal diagnosis is made based on clinical symptoms. The craniofacial anomalies consist of a relatively large head, a broad forehead, a flat occiput, large deep-seated ears, a broad nasal bridge, consequently large viewing distance ( hypertelorism ), long philtrum and a receding chin ( micrognathia ). In the extremities, pronounced finger pad, a pronounced wrist, four-finger furrows, broad thumbs, deep finger and toenails, bending stiffening of the fingers ( camptodactyly and clinodactyly ), restricted mobility in the elbow and knee joints and clubfoot are striking. The radiograph shows short ribs, low broad iliac wings and an unstable cervical spine. Hypertension, hypotension, scoliosis and kyphosis ( curvature of the spine ) were observed. Other physical features are inverted nipples, umbilical hernia and inguinal hernia. The neurological abnormality is psychomotor developmental disorder of children. The patients' voice is hoarse, deep and rough.

Cause

A mutation in the genes EZH2 and NSD1 is brought into a causal connection with the Weaver syndrome. Mutation of the gene NSD1 located in exons 5, 16, 19, 22 and 23.

Therapy

A curative treatment method does not exist.