Weissenbacher-Zweymuller syndrome

Introduction

inherited disorder of bone growth

Epidemiology

• very rare
• only a few families have been reported worldwide

Pathology

• collagenopathy, collagen type 2 & collagen type 11
• skeletal abnormalities that improve with age
• femur & humerus are shaped like dumbbells
• vertebrae may also be abnormally shaped
• hearing loss
• cleft palate

Genetics

• alteration in one of the two copies of the COL11A2 gene
• autosomal dominant disorder

Clinical manifestations

• distinctive facial features
  • wide-set, protruding eyes
  • flat nasal bridge
  • small, upturned nose
  • small lower jaw
• mild features that are similar to those of otospondylomegaepiphyseal dysplasia
• infants are smaller than average
• high-tone hearing loss occurs in some cases
• skeletal signs tend to diminish during childhood
  • jaw growth catches up with age
  • most adults are not unusually short

More general terms

• skeletal dysplasia
• genetic syndrome (multisystem disorder)

Additional terms

• otospondylomegaepiphyseal dysplasia; chondrodystrophy with sensorineural deafness; Insley-Astley syndrome; mega-epiphyseal dwarfism; Nance-Insley syndrome; Nance-Sweeney chondrodysplasia; Oto-spondylo-megaepiphyseal dysplasia (OSMED)

Patient information

Weissenbacher-Zweymuller syndrome patient information