GTR Home > Conditions/Phenotypes > Kniest dysplasia

Summary

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing ... problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible. [from GHR] more

Available tests

26 tests are in the database for this condition. Compare labs offering these tests.

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Associated genes

Clinical features

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  • Umbilical hernia
  • Coxa vara
  • Round face
  • Glossoptosis
  • Short stature
  • Short thorax
  • Short neck
  • Respiratory insufficiency
  • Lumbar kyphoscoliosis
  • Flattened, squared-off epiphyses of tubular bones
  • Recurrent otitis media
  • Gait disturbance
  • Kyphosis
  • Enlarged joints
  • Coronal cleft vertebrae
  • Malar flattening
  • Proptosis
  • Platyspondyly
  • Delayed epiphyseal ossification
  • Micrognathia
  • Cataract
  • Glaucoma
  • Retinal detachment
  • Cleft palate
  • Inguinal hernia
  • Hearing impairment
  • Conductive hearing impairment
  • Retinopathy
  • Ptosis
  • Myopia
  • Dumbbell-shaped long bone
  • Ectopia lentis
  • Motor delay
  • Limitation of joint mobility
  • Respiratory distress
  • Scoliosis
  • Skeletal dysplasia
  • Osteoarthritis
  • Tracheal stenosis
  • Tracheomalacia
  • Abnormality of the femur
  • Hip dislocation
  • Micromelia
  • Flared metaphyses
  • Abnormality of the hip bone
  • Hip contracture
  • Hyperlordosis
  • Disproportionate short-trunk short stature
  • Abnormality of the vitreous humor
  • Depressed nasal bridge
  • Abnormal cartilage collagen
  • Hypoplastic pelvis
  • Enlarged thorax
  • Splayed epiphyses
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