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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pseudoachondroplasia


Other Names for this Disease

  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
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Symptoms

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What are the features of pseudoachondroplasia?

All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.[1]
Last updated: 1/19/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the epiphyses 90%
Abnormality of the hip bone 90%
Abnormality of the metacarpal bones 90%
Abnormality of the metaphyses 90%
Abnormality of the wrist 90%
Brachydactyly syndrome 90%
Delayed skeletal maturation 90%
Micromelia 90%
Arthralgia 50%
Gait disturbance 50%
Hyperlordosis 50%
Joint hypermobility 50%
Limitation of joint mobility 50%
Osteoarthritis 50%
Platyspondyly 50%
Scoliosis 50%
Short toe 50%
Genu valgum 7.5%
Genu varum 7.5%
Hypoplasia of the odontoid process 7.5%
Kyphosis 7.5%
Atlantoaxial dislocation -
Autosomal dominant inheritance -
Beaking of vertebral bodies -
Carpal bone hypoplasia -
Cervical cord compression -
Childhood onset short-limb short stature -
Degenerative joint disease -
Delayed epiphyseal ossification -
Disproportionate short-limb short stature -
Fragmented epiphyses -
Fragmented, irregular epiphyses -
Genu recurvatum -
Irregular carpal bones -
Irregular epiphyses -
Joint laxity -
Ligamentous laxity -
Limited elbow extension -
Limited hip extension -
Lumbar hyperlordosis -
Metaphyseal irregularity -
Metaphyseal widening -
Sensory neuropathy -
Short distal phalanx of finger -
Short long bones -
Short metacarpal -
Small epiphyses -
Spatulate ribs -
Ulnar deviation of the hand -
Ulnar deviation of the wrist -
Waddling gait -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.


Other Names for this Disease
  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.