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Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome.Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities.The condition is exceptionally rare, with an estimated prevalence between 1 in ...
- SHORT syndrome
SHORT syndrome is an uncommon autosomal-dominant condition...
- SHORT syndrome
Among children without growth hormone deficiency, short stature may be caused by Turner syndrome or Noonan syndrome, chronic kidney disease, being small for gestational age at birth, Prader–Willi syndrome, Wiedemann-Steiner syndrome, or other conditions.
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
PurposeThis chapter examines the everyday experiences of short women, focusing on the problems they face and the coping strategies used to navigate being short in a heightist society.
A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay.
27 gru 2013 · This chapter examines the everyday experiences of short women, focusing on the problems they face and the coping strategies used to navigate being short in a heightist society. Further, this chapter views height as a stigmatized identity, which both negatively and positively impacts short women.
2 lip 2021 · SHORT syndrome is a rare autosomal dominant condition described by its acronym of short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger abnormality, and teething delay.
