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Weissenbacher- Zweymuller syndrome

ORPHA3450
Synonym(s) Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin sequence - fetal chondrodysplasia
Pierre Robin syndrome - fetal chondrodysplasia
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q77.7
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts. WZS is a very rare condition, only a few families have been reported worldwide. WZS patients have a period of gradual growth that leads to normal physical development by age 5 to 6 years and final moderate short stature rather than normal stature. Hearing loss is common. Absence of ocular abnormalities differentiates WZS from Stickler syndrome. WZS is caused by heterozygous mutations in the COL11A2 gene and transmitted as an autosomal dominant trait.

Expert reviewer(s)

  • Dr Martine LE MERRER

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