SHORT syndrome
Encyclopedia
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
It was characterized in 1975.
, hyperextensibility of joint
s and/or inguinal hernia
, ocular depression, rieger anomaly and teething delay.
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy
), abnormal position of the ears, hearing loss and delayed speech.
It was characterized in 1975.
Presentation
SHORT is an acronym for short statureShort stature
Short stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context...
, hyperextensibility of joint
Joint
A joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
s and/or inguinal hernia
Inguinal hernia
An inguinal hernia is a protrusion of abdominal-cavity contents through the inguinal canal. They are very common , and their repair is one of the most frequently performed surgical operations....
, ocular depression, rieger anomaly and teething delay.
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy
Lipodystrophy
Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area...
), abnormal position of the ears, hearing loss and delayed speech.