Anauxetic Dysplasia

Common Name(s)

Anauxetic Dysplasia

Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by {3:Thiel et al., 2005}). Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH; {250250}) and metaphyseal dysplasia without hypotrichosis ({250460}). Genetic Heterogeneity of Anauxetic Dysplasia Anauxetic dysplasia-2 (ANXD2; {617396}) is caused by mutation in the POP1 gene on chromosome 8q22.
 

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Condition Specific Organizations

Following organizations serve the condition "Anauxetic Dysplasia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Anauxetic Dysplasia" returned 2 free, full-text research articles on human participants. First 3 results:

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
 

Author(s): Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch

Journal: Am. J. Hum. Genet.. 2007 Sep;81(3):519-29.

 

Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic dysplasia (AD). This clinical spectrum includes ...

Last Updated: 31 Dec 1969

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Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
 

Author(s): D Horn, E Rupprecht, J Kunze, J Spranger

Journal: J. Med. Genet.. 2001 Apr;38(4):262-5.

 

Last Updated: 31 Dec 1969

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The terms "Anauxetic Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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