Pseudoachondroplasia

Introduction: Pseudoachondroplasia

Description of Pseudoachondroplasia

Pseudoachondroplasia (medical condition): A rare genetic disorder characterized by bone growth and development abnormalities.

See also:

Pseudoachondroplasia:
  »Introduction: Pseudoachondroplasia
  »Symptoms of Pseudoachondroplasia

Pseudoachondroplasia: A skeletal dysplasia characterized by short-limb dwarfism with leg deformities associated with genu varum or genu valgum and ligamentous laxity, allowing the joints to telescope; normal appearing head and face. Autosomal dominant inheritance [MIM*177150 and MIM*177170] caused by mutation in the cartilage oligomeric matrix protein gene (COMP) on 19p. SYN: pseudoachondroplastic spondyloepiphysial dysplasia.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Pseudoachondroplasia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Pseudoachondroplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pseudoachondroplasia, or a subtype of Pseudoachondroplasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Pseudoachondroplasia as a "rare disease".

Source - Orphanet

Pseudoachondroplasia as a Disease

Pseudoachondroplasia (medical condition): See Pseudoachondroplasia (disease information).
  »Introduction: Pseudoachondroplasia
  »Symptoms of Pseudoachondroplasia

More information on medical condition: Pseudoachondroplasia:

• Information about Pseudoachondroplasia
• Basic Summary for Pseudoachondroplasia
• Symptoms of Pseudoachondroplasia

Pseudoachondroplasia: Related Disease Topics

These medical disease topics may be related to Pseudoachondroplasia:

• short limb dwarfism
• autoosmal dominant disorder
• achondroplasia
• dwarfism
• pseudoachondroplasia
• waddling gait

Terms associated with Pseudoachondroplasia:

Terms Similar to Pseudoachondroplasia:

• Spondyloepiphyseal dysplasia, pseudoachondroplastic

Source: Diseases Database

• PSACH
• Pseudoachondroplastic dysplasia
• Pseudoachondroplastic spondyloepiphyseal dysplasia

Source - NIH

External links related to: Pseudoachondroplasia

• OMIM - PSEUDOACHONDROPLASTIC DYSPLASIA
• GeneReviews: Pseudoachondroplasia

Source: Diseases Database

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Medical dictionaries:

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• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Congenital folds and cysts of posterior segment

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