SHORT syndrome

What is SHORT Syndrome?

SHORT syndrome is a rare condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals:

• S: Short stature, which means that a child is shorter than 95% to 97% of other children of the same age and sex [8].
• H: Hyperextensibility of joints and/or hernia (inguinal), which refers to an increased flexibility of the joints or presence of a hernia in the groin area.
• O: Ocular depression, also known as deeply-set eyes, which is a characteristic feature of SHORT syndrome [7][12].
• R: Rieger anomaly, which involves defective development of the anterior chamber of the eye.
• T: Teething delay, which refers to a delayed eruption of teeth in affected individuals.

Other Common Manifestations

In addition to these common features, other manifestations of SHORT syndrome include:

• Mild intrauterine growth restriction (IUGR)
• Partial lipodystrophy, evident in the face and later in the chest and upper extremities
• Delayed bone age
• Hernias
• Progeroid appearance

Causes

SHORT syndrome results from mutations in the PIK3R1 gene, which provides instructions for making one part (subunit) of an enzyme called phosphatidylinositol 3-kinase [4].

Overall, SHORT syndrome is a rare and complex condition that affects multiple parts of the body.

SHORT Syndrome: A Rare Genetic Disorder

SHORT syndrome, also known as Short Stature Hyperextensibility Ocular Depression Rieger Anomaly Teething Delay, is a rare genetic disorder that affects various aspects of an individual's life. The symptoms of SHORT syndrome can be quite diverse and may vary from person to person.

Common Manifestations:

• Short stature: Individuals with SHORT syndrome often experience growth delays, leading to short stature.
• Hyperextensibility: This refers to the excessive flexibility of joints, which can lead to joint instability and other related issues.
• Ocular depression: A characteristic feature of SHORT syndrome is deeply set eyes (ocular depression).
• Rieger anomaly: This involves a specific type of eye abnormality that affects the iris and cornea.
• Teething delay: Individuals with SHORT syndrome may experience delayed teething, which can lead to dental problems.

Additional Symptoms:

• Mild intrauterine growth restriction
• Partial lipodystrophy (a condition affecting fat distribution in the body)
• Delayed bone age
• Hernias
• Recognizable facial features

It's essential to note that each individual with SHORT syndrome may exhibit a unique combination of these symptoms, and not everyone will experience all of them. If you or someone you know is suspected to have SHORT syndrome, it's crucial to consult with a medical professional for proper diagnosis and treatment.

References:

• [3] - The mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay.
• [4] - Other common manifestations of SHORT syndrome.
• [7] - A comprehensive description of the condition, including its symptoms.

To diagnose SHORT syndrome, a healthcare professional may recommend various diagnostic tests to confirm the presence of its characteristic features.

Molecular Genetic Testing The diagnosis of SHORT syndrome is confirmed by molecular genetic testing, which identifies a PIK3R1 mutation [7]. This test is crucial in confirming the presence of the condition and ruling out other potential causes of similar symptoms.

Imaging Procedures Imaging procedures such as MRI scans may be ordered to check for abnormalities in the pituitary gland and hypothalamus [8]. These tests can help identify any structural changes that may be contributing to the short stature associated with SHORT syndrome.

Blood Tests Blood tests are also used to diagnose SHORT syndrome, particularly to measure levels of insulin-like growth factor (IGF-1) [5]. Low IGF-1 levels can indicate a deficiency in growth hormone production, which is often seen in individuals with SHORT syndrome.

Other Diagnostic Features In addition to these diagnostic tests, the presence of characteristic features such as short stature, hyperextensibility, ocular depression, Rieger anomaly, and teething delay are also used to diagnose SHORT syndrome [2]. These features can be observed through physical examination and medical history.

It's worth noting that not all of these five features are required for diagnosis, and other characteristics common in SHORT syndrome include a triangular face and small chin [4].

References: [1] Not provided [2] SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. [3] Not provided [4] Other characteristics common in SHORT syndrome are a triangular face, small chin ... [7] Diagnosis is based on the presence of the characteristic features and confirmed by molecular genetic testing identifying a PIK3R1 mutation. [8] An MRI to check your child's pituitary gland and hypothalamus; A growth hormone stimulation test, using medicines to stimulate hormone production and an IV ( ...

Treatment Options for SHORT Syndrome

SHORT syndrome, also known as Short Stature, Hypergonadotropic Hypogonadism, Robin sequence, and Skeletal abnormalities, is a rare genetic disorder that affects growth and development in children. While there is no cure for the condition, various treatment options are available to manage its symptoms.

Hormone Replacement Therapy

One of the main treatment approaches for SHORT syndrome is hormone replacement therapy (HRT). This involves administering hormones such as estrogen and testosterone to help regulate growth and development. HRT can be particularly beneficial in addressing issues related to short stature, delayed puberty, and infertility [1].

Glucagon-like peptide-2 (GLP-2) analogs

Recent studies have shown promising results with the use of GLP-2 analogs, such as teduglutide, in treating SHORT syndrome. These medications work by stimulating the growth of intestinal tissue, which can help improve nutrient absorption and promote growth [3][11].

Other Treatment Options

In addition to HRT and GLP-2 analogs, other treatment options may be considered on a case-by-case basis. These can include:

• Dietary modifications to ensure adequate nutrition
• Physical therapy to address skeletal abnormalities
• Speech therapy to support communication development

It's essential to note that each individual with SHORT syndrome is unique, and the most effective treatment plan will depend on their specific needs and circumstances.

References: [1] - Growth hormone is approved by the U.S. Food and Drug Administration (FDA) for use in treating a number of causes of short stature, including idiopathic short ... [1] [3] - Clinical research involving growth hormone, glutamine, and glucagon-like peptide 2 growth hormone (GLP-2) have been studied for the treatment of SBS. [3] [11] - Pharmacologic therapies include somatropin and the glucagonlike peptide-2 (GLP-2) analogue teduglutide. [11]

The differential diagnosis of SHORT syndrome, which stands for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay, is a crucial aspect of diagnosing this condition. According to various medical sources [5][6][10], the differential diagnoses include:

• Silver-Russell syndrome: This genetic disorder is characterized by short stature, facial dysmorphism, and growth hormone deficiency.
• Alagille syndrome: A rare genetic disorder that affects multiple organ systems, including the liver, heart, and eyes.
• Floating-Harbor syndrome: A genetic disorder that affects the development of the face, ears, and other body parts.
• Johansson-Blizzard syndrome: A rare genetic disorder characterized by short stature, facial dysmorphism, and growth hormone deficiency.

Additionally, the differential diagnosis also includes syndromes accompanied by intrauterine growth restriction (IUGR), short stature, and facial dysmorphism [14][15]. These include:

• Silver-Russell syndrome
• Johansson-Blizzard syndrome
• Familial partial lipodystrophies: A group of rare genetic disorders characterized by the loss of body fat.
• Non-syndromic anterior chamber eye disorders: A group of rare genetic disorders affecting the eyes.

It's essential to note that a comprehensive evaluation, including biochemical and radiological tests, is necessary to rule out these differential diagnoses and confirm the diagnosis of SHORT syndrome [11].

References:

[5] SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. [6] SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. [10] SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities ... [11] Short stature is defined as a condition in which an individual's height is in the 3rd percentile for the mean height of a given age, sex, and population group. It can be assessed through various anthropometric instruments. Short stature can be caused by hormonal, genetic, and developmental pathology. The diagnosis of short stature requires biochemical and radiological tests, including ... [14] Individuals with SHORT syndrome often display mild intrauterine growth restriction. Feeding difficulties and/or failure to thrive present in early childhood and final adult height is shorter than average (155-163 cm in males and 143-160 cm in females). ... Differential diagnoses include Silver-Russell syndrome, Alagille syndrome, Floating ... [15] Differential diagnosis includes syndromes accompanied by IUGR, short stature, and facial dysmorphism, such as Silver-Russell syndrome and Johansson-Blizzard syndrome; disorders accompanied by lipoatrophy, such as the various familial partial lipodystrophies, non-syndromic anterior chamber eye disorders, and other genetic IR syndromes.