GTR Home > Conditions/Phenotypes > Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Disease characteristics

Excerpted from the GeneReview: Pseudoachondroplasia
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, by approximately age two years, the growth rate falls below the standard growth curve, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive and approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.

Associated genes

Clinical features

  • Waddling gait
  • Gait disturbance
  • Kyphosis
  • Irregular epiphyses
  • Small epiphyses
  • Short long bones
  • Metaphyseal widening
  • Ligamentous laxity
  • Limited elbow extension
  • Platyspondyly
  • Metaphyseal irregularity
  • Delayed epiphyseal ossification
  • Cervical cord compression
  • Childhood onset short-limb short stature
  • Fragmented, irregular epiphyses
  • Carpal bone hypoplasia
  • Arthralgia
  • Limited hip extension
  • Sensory neuropathy
  • Abnormality of the metaphyses
  • Brachydactyly syndrome
  • Abnormality of the metacarpal bones
  • Limitation of joint mobility
  • Degenerative joint disease
  • Joint hypermobility
  • Joint laxity
  • Short toe
  • Scoliosis
  • Delayed skeletal maturation
  • Osteoarthritis
  • Genu recurvatum
  • Genu valgum
  • Lumbar hyperlordosis
  • Genu varum
  • Micromelia
  • Abnormality of the wrist
  • Ulnar deviation of the wrist
  • Abnormality of the hip bone
  • Hyperlordosis
  • Hypoplasia of the odontoid process
  • Atlantoaxial dislocation
  • Irregular carpal bones
  • Beaking of vertebral bodies
  • Abnormality of the epiphyses
  • Disproportionate short-limb short stature
  • Ulnar deviation of the hand
  • Short distal phalanx of finger
  • Short metacarpal
  • Fragmented epiphyses
  • Spatulate ribs
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