SHORT syndrome is a medical condition in which affected individuals have multiple
birth defect
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities ca ...
s in different
organ system
An organ system is a biological system consisting of a group of organs that work together to perform one or more functions. Each organ has a specialized role in a plant or animal body, and is made up of distinct tissues.
Plants
Plants have ...
s.
It was characterized in 1975.
Presentation
SHORT is an
acronym
An acronym is a word or name formed from the initial components of a longer name or phrase. Acronyms are usually formed from the initial letters of words, as in ''NATO'' (''North Atlantic Treaty Organization''), but sometimes use syllables, as ...
for
short stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called '' ...
,
hyperextensibility of
joint
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw ...
s and/or
inguinal hernia
An inguinal hernia is a hernia (protrusion) of abdominal-cavity contents through the inguinal canal. Symptoms, which may include pain or discomfort especially with or following coughing, exercise, or bowel movements, are absent in about a third ...
, ocular depression,
Rieger anomaly Rieger and de Reiger are surnames. Notable people with the surname include:
* August Rieger
* Bernhard Rieger, German Prelate of the Roman Catholic Church
* Durhane Wong-Rieger, Canadian physician
*Erich Rieger, German astrophysicist
* František L ...
and teething delay. Other characteristics common in SHORT syndrome are a triangular face, a prominent forehead, small chin with a dimple, a loss of fat under the skin (
lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. ...
), prominent ears (but no low implantation or posterior localisation), hearing loss and delayed speech. Facial lipodystrophy may be evident during birth and later on in the chest and higher extremities, but it usually won't affect buttocks and legs. Diabetes has been observed in ⅔ of the affected after they turn 15.
Diagnosis
Diagnosis is based on facial characteristics and molecular genetic testing that will show a
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
on gene ''PIK3R1'' (5q13.1), which codifies the regulating alpha subunit of phosphatidylinositol 3-kinase. This mutation can alter the PI3K/AKT/mTOR signal route, which plays an important role in
cell growth
Cell growth refers to an increase in the total mass of a cell, including both cytoplasmic, nuclear and organelle volume. Cell growth occurs when the overall rate of cellular biosynthesis (production of biomolecules or anabolism) is greater than ...
and
proliferation.
Treatment
Treatment involves multiple disciplines.
-Screening for insulin resistance during late childhood stage.
-Glucose intolerance and diabetes mellitus can be treated with a different diet and lifestyle changes.
-Regular eye checkups are recommended in order to keep vision.
-Dental anomalies can be treated with common methods (protheses, crown, etc.)
References
External links
Congenital disorders
Syndromes
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