Presentation
Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]
Entire Body System
- Short Stature
The clinical features of AHO include short stature, obesity, round face, subcutaneous calcifications, brachydactyly, and other skeletal abnormalities. [tr-ex.me]
Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]
Musculoskeletal
- Brachydactyly
In addition, people affected with the syndrome have rhizomelia and brachydactyly. [tr-ex.me]
Figure 1 illustrates the changes in the main types of isolated brachydactyly. Table 2 shows the genomics of isolated brachydactyly. Figure 1 A diagram showing main types of isolated brachydactyly. Modified from Temtamy & McKusick [1]. [ojrd.biomedcentral.com]
Pathology Bell classification of brachydactyly Different types of brachydactyly are classified according to their clinical and radiographic features of phalangeal or metacarpal involvement. [radiopaedia.org]
Diagnostic Etude cas Etude familiale Exploration Forme clinique Homme Membre supérieur Métacarpophalangien Phénotype Radiographie Main pathologie Malformation Radiodiagnostic Système ostéoarticulaire pathologie Keyword (en) Brachydactyly Diagnosis Case [pascal-francis.inist.fr]
Epidemiology
Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]