Mandibuloacral dysostosis

Common Name(s)

Mandibuloacral dysostosis

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes ({37:Young et al., 1971}; {30:Simha and Garg, 2002}; summary by {11:Garavelli et al., 2009}). See also MAD type B (MADB; {608612}), which is caused by mutation in the ZMPSTE24 gene ({606480}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mandibuloacral dysostosis" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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