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Pseudoachondroplastic Dysplasia

Abstract

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Synonyms of Pseudoachondroplastic Dysplasia

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Pseudoachondroplastic dysplasia is a rare inherited disorder characterized by skeletal malformations resulting in short legs and mild to moderate short stature (short-limbed dwarfism). Affected individuals may have short, stubby fingers (brachydactyly), abnormally bowed legs (genu varum), and/or a malformation in which the knees are abnormally close together and the ankles are unusually far apart (genu valgum). In addition, affected individuals may have spinal abnormalities including abnormally increased curvature of the bones of the lower spine (lumbar lordosis) and front-to-back curvature of the spine (kyphosis). Cases of pseudoachondroplastic dysplasia are due to mutations of the COMP gene. Most cases of pseudoachondroplastic dysplasia are inherited as an autosomal dominant trait. However, a recessive form of the disorder may also exist.

Organizations related to Pseudoachondroplastic Dysplasia

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., short stature, skeletal abnormalities, etc.)

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