Presentation
Amastia and athelia as an exceptional presentation of hypohydrotic ectodermal dysplasia in an adult female. [ouci.dntb.gov.ua]
Entire Body System
- Short Stature
0009466 Short phalanx of finger Short finger bones 0009803 Short stature Decreased body height Small stature [ more ] 0004322 Short tibia Short shinbone Short skankbone [ more ] 0005736 Short toe Short toes Stubby toes [ more ] 0001831 Tarsal synostosis [rarediseases.info.nih.gov]
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet. 2000;37(9):719–21. https://doi.org/10.1136/jmg.37.9.719 Finger ER. [ouci.dntb.gov.ua]
Cardiovascular
- Hypertension
autosomal-dominant hypertension with brachydactyly syndrome syndactyly: then termed brachydactyly Differential diagnosis The differential for other causes of short digits include: pseudohypoparathyroidism (PHP) pseudopseudohypoparathyroidism (PPHP) [radiopaedia.org]
See also Hypertension and brachydactyly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Clubbed thumb Syndactyly References ^ Pierpont, Mary Ella; Brueckner, Martina; Chung, Wendy K.; Garg, Vidu; Lacro, Ronald V.; McGuire, Amy [scientiait.com]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment Treatment is only needed if brachydactyly affects the function of the phalanges. In rare cases where function is affected, reconstructive surgery is used to improve function and the ability to use one's phalanges. [scientiait.com]
The diseases of the breast: and their treatment. London: Longman, Brown, Green, and Longman; 1850. p. 20–7. Lousier M. Dissert sur la lactation, vol. 15. Paris; 1801. Cited by Birkett [1]. Williams R. Mammary variations per defectum. [ouci.dntb.gov.ua]
Prognosis
Prognosis may differ with different types or syndromes. ie. Brachydactyly-mesomelia-intellectual disability-heart defects syndrome or if brachydactyly is not isolated and is a part of a larger genetic condition. [scientiait.com]
Etiology
Theories of the etiology of congenital deformities. Surg Gynecol Obstet. 1949;88(1):1–14. Fraser FC. Dominant inheritance of absent nipples and breasts. In: Novant Anni delle Leggi Mendeliane. Rome: Instituto Gregorie Mendel; 1956.p. 360–2. [ouci.dntb.gov.ua]
Epidemiology
S2CID 30099363. ^ "Clubbing of the Nails: Background, Pathophysiology, Epidemiology". 15 July 2021. [scientiait.com]
Epidemiology of choanal atresia – the National Birth Defects Prevention Study. Dissertation, University of Iowa 2010. http://ir.uiowa.edu/etd/829. Cormack G. Breast hypoplasia. [ouci.dntb.gov.ua]
Pathophysiology
^ "Clubbing of the Nails: Background, Pathophysiology, Epidemiology". 15 July 2021. [scientiait.com]
Prevention
Epidemiology of choanal atresia – the National Birth Defects Prevention Study. Dissertation, University of Iowa 2010. http://ir.uiowa.edu/etd/829. Cormack G. Breast hypoplasia. [ouci.dntb.gov.ua]