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Mandibuloacral dysplasia

Mandibuloacral dysplasia
Classification and external resources
OMIM 248370
DiseasesDB 33029
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Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.

Types include:




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Wikipedia

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