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Weissenbacher- Zweymuller syndrome
Disease definition
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.
ORPHA:3450
Classification level: DisorderSummary
Epidemiology
WZS is a very rare condition, only a few families have been reported worldwide.
Clinical description
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.
Etiology
WZS is caused by heterozygous mutations in the COL11A2 gene.
Differential diagnosis
Absence of ocular abnormalities differentiates WZS from Stickler syndrome.
Genetic counseling
WZS is transmitted as an autosomal dominant trait.
Additional information
Further information on this disease
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