Presentation
In isolated brachydactyly (Table 1), subtle changes elsewhere may still be present. [cyberleninka.org]
Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ncbi.nlm.nih.gov]
Entire Body System
- Short Finger
Brachydactyly Different forms of brachydactyly Specialty Medical genetics Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger" (fingers). [en.wikipedia.org]
A single flexion crease of the little finger indicates a short or absent middle phalanx. [cyberleninka.org]
- Broad Thumb
Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC). [cyberleninka.org]
Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC). An Egyptian patient with du Pan syndrome. [ncbi.nlm.nih.gov]
- Swelling
Referred to inaccurately ("clubbing is a clinically descriptive term, referring to the bulbous uniform swelling of the soft tissue of the terminal phalanx of a digit")[2] as "clubbed thumbs". Type E, BDE 113300 HOXD13 2q31-q32 Brachydactyly type E. [en.wikipedia.org]
Musculoskeletal
- Brachydactyly
Type A7, BDA7 Brachydactyly type A7 or Brachydactyly Smorgasbord type.[1] Type B, BDB (or BDB1) 113000 ROR2 9q22 Brachydactyly type B. Type C, BDC 113100 GDF5 20q11.2 Brachydactyly type C or Brachydactyly Haws type. [en.wikipedia.org]
Table 1 Types of isolated brachydactyly Name Synonyms OMIM Brachydactyly type A Brachydactyly type A1 (BDA1) Farabee type brachydactyly 112500 Brachydactyly type A2 (BDA2) Mohr-Wriedt type brachydactyly 112600 Brachydactyly type A3 (BDA3) Brachymesophalangy [ncbi.nlm.nih.gov]
Table 1: Types of isolated brachydactyly Name Synonyms OMIM Brachydactyly type A Brachydactyly type Al (BDAI) Farabee type brachydactyly 112500 Brachydactyly type A2 (BDA2) Mohr-Wriedt type brachydactyly 112600 Brachydactyly type A3 (BDA3) Brachymesophalangy [cyberleninka.org]
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]
Treatment
At the end of treatment, there were still no significant differences in the duration of treatment and total ΔHtSDS between the two groups. Table 3 The therapeutic effects of GH on ISS patients in BDA3 and no BDA3 group (mean ± SD). [frontiersin.org]
There is no general, specific management or treatment that is applicable to all forms of brachydactyly. [cyberleninka.org]
Although variable symptoms may still be present in affected sibs, variability is usually smaller in autosomal recessive forms. • Management including treatment There is no general, specific management or treatment that is applicable to all forms of brachydactyly [ncbi.nlm.nih.gov]
Prognosis
Physical therapy and ergotherapy may ameliorate hand function. ♦ Prognosis Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. [cyberleninka.org]
Physical therapy and ergotherapy may ameliorate hand function. • Prognosis Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. [ncbi.nlm.nih.gov]
Etiology
We further analyzed the prevalence of BDA3 in the normal short stature and short stature groups with different etiologies. [frontiersin.org]
Epidemiology
Epidemiology Type A3 brachydactyly is quite common among Japanese adolescent population. Incidences vary from 4-21% in different populations. Pathology It is an autosomal dominant disorder like other subtypes of brachydactyly. [radiopaedia.org]
Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]
^ "Clubbing of the Nails: Background, Pathophysiology, Epidemiology". [en.wikipedia.org]
Pathophysiology
^ "Clubbing of the Nails: Background, Pathophysiology, Epidemiology". [en.wikipedia.org]