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GTR Home > Conditions/Phenotypes > Acromicric dysplasia

Acromicric dysplasia

Synonyms
Acromicric skeletal dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). [from OMIM]

Available tests

81 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (81 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, FBN1
    Summary: fibrillin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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