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acromicric dysplasia

Disease Summary
Associated Targets (5)
Tbio

5


Explore Associated Targets
Mondo Description Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0007055:  acromicric dysplasia
DOID:0111243: 
GARD:0000007: 
MESH:C535662: 
Orphanet:969: 
SCTID:254090007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)