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Weissenbacher- Zweymuller syndrome
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.
- Heterozygous OSMED
- Heterozygous otospondylomegaepiphyseal dysplasia
- Pierre Robin sequence-fetal chondrodysplasia syndrome
- Pierre Robin syndrome-fetal chondrodysplasia syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q77.7
- OMIM: 277610
- UMLS: C1848488
- MeSH: -
- GARD: 4351
- MedDRA: -
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.
WZS is caused by heterozygous mutations in the COL11A2 gene.
Absence of ocular abnormalities differentiates WZS from Stickler syndrome.
WZS is transmitted as an autosomal dominant trait.