Weaver Syndrome

Classification according to ICD-10
Q87.3	Congenital malformation syndromes with increased tissue growth in early childhood Weaver syndrome
ICD-10 online (WHO version 2019)

The Weaver syndrome or Weaver-Smith syndrome is a congenital disorder with increased body growth ( macrosomia ) and mostly mild mental retardation. Those affected have characteristic facial features. Boys are 2 to 3 times more likely to be affected than girls. In adulthood, the abnormalities are less pronounced. The life expectancy of the patient is not negatively affected by the malformation.

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

diagnosis

Macrosomia can already be seen on prenatal ultrasound . Postnatally, the diagnosis is based on clinical symptoms. The craniofacial anomalies consist of a relatively large head, a broad forehead, a flat back of the head, large deep-seated ears, a broad bridge of the nose, the resulting large eye relief ( hypertelorism ), a long philtrum and a receding chin (microgenius). On the extremities, pronounced fingertip pads, a pronounced wrist, four -finger furrows , broad thumbs, deep-set fingernails and toenails, flexion stiffening of the fingers ( camptodactyly and clinodactyly ), limited mobility in the elbow and knee joints and club feet are noticeable. The x-ray shows short ribs, low, wide pelvic blades and an unstable cervical spine. Hypertension, hypotension, scoliosis, and kyphosis (curvature of the spine) have been observed. Other physical features include retracted nipples, umbilical hernias, and hernias. The psychomotor developmental disorder in children is one of the neurological abnormalities. The patient's voice is hoarse, deep and harsh.

Differential diagnostics

The Marshall-Smith syndrome is to be distinguished (among others) .

root cause

A mutation in the NSD1 and EZH2 genes is linked to Weaver's syndrome. The mutation in the NSD1 gene is located in exons 5, 16, 19, 22 and 23.

therapy

There is no curative method of treatment.

See also

• Sotos syndrome
• Beckwith-Wiedemann syndrome

Web links

• Disease overview Weaver syndrome (PDF file; 401 KB)
• Two children with Weaver Syndrome, drawing
• Male child, with side view of head with Weaver syndrome

Individual evidence

1. ↑ http://atlasgeneticsoncology.org/Kprones/WeaverID10141.html (see section "Prognosis")
2. ^ David D. Weaver et al .: A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly . In: The Journal of Pediatrics, Volume 84, Issue 4, pages 547-552
3. ^ William T. Gibson et al .: Mutations in EZH2 Cause Weaver Syndrome
4. ↑ J. Douglas, S. Hanks, IK Temple, S. Davies, A. Murray, M. Upadhyaya, S. Tomkins, HE Hughes, TR Cole, N. Rahman: NSD1 mutations are the major cause of Sotos syndrome and occur in Some cases of Weaver syndrome but are rare in other overgrowth phenotypes. In: American Journal of Human Genetics . Volume 72, Number 1, January 2003, pp. 132-143, PMID 12464997 , PMC 378618 (free full text).
5. ↑ http://www.cell.com/AJHG/retrieve/pii/S0002929711004964
6. ↑ http://atlasgeneticsoncology.org/Kprones/WeaverID10141.html

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !