Genetic conditions, including Turner syndrome, Down syndrome, or Prader-Willi syndrome, can also cause PSS. Disproportionate short stature (DSS) DSS is linked to a genetic mutation.

Abnormalities in the short stature homeobox-containing (SHOX) gene cause SHOX syndrome. This condition leads to a short stature and other skeletal differences that develop in the first few years ...

Short stature is a general term for people whose height is considerably below ... a DNA analysis to check for Turner syndrome in girls and other genetic diseases; blood tests to check for thyroid ...

Ward-Melver, who is a geneticist at Akron Children's Hospital, had never met another girl with Turner syndrome until she went to medical school. But now, she has adopted 4-year-old Zoe, who also ...

Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain. Journal of Medical Genetics , 2009; DOI: 10.1136/jmg.2009.067785 ...

Short stature in childhood is a very common reason for referral to pediatric endocrinologists. Although evaluation for growth-inhibiting disorders is often indicated, most children with short ...

A 14-year-old girl presented with idiopathic short stature. Her height is 52.5" (133.3 cm) ... Turner syndrome, a common cause of short stature and sexual infantilism in girls ...

Because idiopathic short stature is a diagnosis of exclusion ... Absence of systemic illness, malnutrition, syndrome, ADHD treatment. Normal exam, lab studies (including renal, ...

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 18 , 258–261 (2010). https://doi.org ...

The mutation causes people to have a faulty receptor for growth hormone, leading them to be short in stature. People with Laron syndrome also have lower levels of IGF-1, because release of this ...

A rare genetic mutation linked to Laron syndrome, which typically results in shorter stature, might also provide clues about ...