GTR Home > Conditions/Phenotypes > Otospondylomegaepiphyseal dysplasia

Summary

Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. People with OSMED are often shorter than average because the bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Virtually ... all affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of OSMED tend to diminish during childhood, but other signs and symptoms, such as hearing loss and joint pain, persist into adulthood. [from GHR] more

Available tests

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Associated genes

Clinical features

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  • Strabismus
  • Bulbous nose
  • Short stature
  • Depressed nasal ridge
  • Kyphosis
  • Platyspondyly (childhood)
  • Midface retrusion
  • Anteverted nares
  • Short long bones
  • Premature osteoarthritis
  • Enlarged joints
  • Prominent interphalangeal joints
  • Large tarsal bones
  • Coronal cleft vertebrae
  • Malar flattening
  • Ventricular septal defect
  • Micrognathia
  • Arthralgia
  • Cleft palate
  • Pierre-Robin sequence
  • Sensorineural hearing impairment
  • Mixed hearing impairment
  • Abnormality of the eye
  • Lacrimation abnormality
  • Abnormality of the metaphyses
  • Abnormality of the skin
  • Flexion contracture
  • Limitation of joint mobility
  • Epiphyseal dysplasia
  • Lumbar hyperlordosis
  • Micromelia
  • Flared metaphyses
  • Hyperlordosis
  • Abnormal form of the vertebral bodies
  • Short palm
  • Aplasia/Hypoplasia of the capital femoral epiphysis
  • Synostosis of carpal bones
  • Recurrent pneumonia
  • Short phalanx of finger
  • Short metacarpal
  • Cheekbone underdevelopment
  • Abnormality of immune system physiology
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