SHORT syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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SHORT syndrome
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Short stature, hyperextensibility, ocular anomalies, Rieger anomaly, teething delay
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the PIK3R1 gene
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Noonan syndrome, Turner syndrome, Williams syndrome
Prevention
Treatment	Symptomatic management
Medication
Prognosis	Generally good with management
Frequency	Rare
Deaths

SHORT syndrome is a rare genetic disorder that is characterized by a combination of distinctive facial features, short stature, and other anomalies. The name "SHORT" is an acronym that stands for some of the common features of the syndrome: Short stature, Hyperextensibility of joints and/or hernia, Ocular depression, Rieger anomaly (a type of eye defect), and Teething delay.

Signs and symptoms

Individuals with SHORT syndrome typically present with a variety of clinical features, which may include:

• Short stature: Affected individuals are often significantly shorter than their peers.
• Distinctive facial features: These may include a triangular face, deep-set eyes, a prominent forehead, and a small chin.
• Hyperextensibility of joints: Some individuals may have joints that are more flexible than usual.
• Ocular depression: The eyes may appear sunken.
• Rieger anomaly: This is a defect of the eye that can affect the iris and cornea.
• Teething delay: There may be a delay in the eruption of teeth.
• Other features: Additional features can include hearing loss, lipodystrophy (abnormal distribution of body fat), and insulin resistance.

Genetics

SHORT syndrome is primarily caused by mutations in the PIK3R1 gene. This gene provides instructions for making a protein that is part of a signaling pathway involved in cell growth, proliferation, and survival. Mutations in this gene can disrupt normal development and lead to the features of SHORT syndrome. The condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs as a new (de novo) mutation, meaning it is not inherited from either parent.

Diagnosis

Diagnosis of SHORT syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the PIK3R1 gene. A thorough medical history and physical examination are essential for diagnosis.

Management

Management of SHORT syndrome is symptomatic and supportive. Treatment may involve a team of specialists, including endocrinologists, ophthalmologists, and geneticists.

• Growth hormone therapy: This may be considered to help improve growth in children with short stature.
• Ophthalmologic care: Regular eye examinations and management of any eye anomalies are important.
• Hearing aids: These may be necessary for individuals with hearing loss.
• Nutritional support: Ensuring adequate nutrition and monitoring for insulin resistance are important aspects of care.

Prognosis

The prognosis for individuals with SHORT syndrome varies depending on the severity of symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.

See also

• Genetic disorder
• Growth hormone therapy
• Lipodystrophy
• Insulin resistance