weaver syndrome
nicht verwechseln mit: Marshall-Smith-SyndromWeaver syndrome (WS) is a rare congenital disorder.
Clinical spectrum
- increased birth weight: fetal macrosomia
- early overgrowth
- macrocephaly
- accelerated osseous maturation: increased bone age
- typical facial features
- broad forehead
- hypertelorism
- long philtrum
- micrognathia
- large ears
- hoarse-low pitched voice
- hypertonia of muscles
- mild developmental delay
Associations
- thin-deep-set nails
- talipes equinovarus
- widened distal femora
History and etymology
It was initially described D D Weaver et al. in 1974 .
Siehe auch:
- Hypertelorismus
- Mikrognathie
- Beckwith-Wiedemann-Syndrom
- Makrozephalie
- langes Philtrum
- beschleunigte Skelettreifung
- Sotos-Syndrom
- Makrosomie
- Marshall-Smith-Syndrom
und weiter:
Assoziationen und Differentialdiagnosen zu Weaver-Syndrom:
