GTR Home > Conditions/Phenotypes > Geleophysic dysplasia

Disease characteristics

Excerpted from the GeneReview: Geleophysic Dysplasia
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.

Available tests

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

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

  • Coxa valga
  • Round face
  • Bulbous nose
  • High pitched voice
  • Short stature
  • Lack of skin elasticity
  • Short foot
  • Ovoid vertebral bodies
  • Deep philtrum
  • Thickened helices
  • Anteverted nares
  • Long eyelashes
  • J-shaped sella turcica
  • Joint stiffness
  • Short long bones
  • Short metacarpals with rounded proximal ends
  • Long philtrum
  • Cone-shaped epiphysis
  • Seizure
  • Osteopenia
  • Fifth metacarpal with ulnar notch
  • Wide mouth
  • Narrow mouth
  • Thick lower lip vermilion
  • Smooth philtrum
  • Abnormality of the eye
  • Upslanted palpebral fissure
  • Decreased nerve conduction velocity
  • Pectus excavatum
  • Thickened skin
  • Brachydactyly syndrome
  • Wrist flexion contracture
  • Global developmental delay
  • Limitation of joint mobility
  • Hoarse voice
  • Congestive heart failure
  • Aortic valve stenosis
  • Mitral stenosis
  • Small nail
  • Hepatomegaly
  • Delayed skeletal maturation
  • Tracheal stenosis
  • Abnormality of the femur
  • Hypoplasia of the capital femoral epiphysis
  • Short nose
  • Severe short stature
  • Short palm
  • Irregular capital femoral epiphysis
  • Short phalanx of finger
  • Short metacarpal
  • Tricuspid stenosis
  • Camptodactyly of finger
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