Related Experiment Video
Updated: Jun 10, 2026
05:12
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Temple-Baraitser syndrome: a rare and possibly unrecognized condition
Adeline Jacquinet1, Marion Gérard, Michael T Gabbett
1Center for Human Genetics, CHU & University of Liège, Liège, Belgium.
American Journal of Medical Genetics. Part A
|August 5, 2010
Summary
Temple-Baraitser syndrome is a rare genetic disorder characterized by severe intellectual disability and distinctive thumb and great toe abnormalities. Further research confirms it as a unique syndrome likely caused by a new de novo mutation.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Temple-Baraitser syndrome (TBS) is a rare condition previously identified in two patients, characterized by severe mental retardation and abnormalities of the thumbs and great toes.
- The syndrome's specific genetic basis and inheritance pattern have remained largely undefined.
Observation:
- This report details two additional unrelated patients diagnosed with Temple-Baraitser syndrome.
- Consistent clinical features include hypo/aplasia of thumbnail/great toenail and broadening/elongation of thumbs and halluces.
Findings:
- Genetic analysis, including comparative genomic hybridization, did not reveal copy number variations in the reported patients.
- The inheritance pattern suggests sporadic occurrence, likely due to a de novo mutation.
Implications:
- Temple-Baraitser syndrome is confirmed as a distinct clinical entity.
- Further research is needed to identify the specific gene responsible for this syndrome and its underlying genetic mechanism.
Related Concept Videos
01:29Decreased Body Temperature
A decreased body temperature can occur in patients with hypothermia and frostbite. Heat loss with extended cold exposure overpowers the body's ability to create heat, resulting in hypothermia. Core temperature readings help classify hypothermia. Mild hypothermia is temperatures between 32 °C (89.6 °F) and 35°C (95 °F) and is caused by impaired thermoregulation. Moderate hypothermia is temperatures between 28 C (82.4 °F) and 32 °C (89.6 °F) caused by sustained extreme cold exposure, and severe...
01:28Graves' Disease I: Introduction
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
01:24Graves Disease II: Pathophysiology
Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
01:25Increased Body Temperature
A body temperature above 38°C (100.4 °F) is known as fever or pyrexia, and a person with fever is termed 'febrile.' Typically, the hypothalamus, a part of the brain that acts as the body's thermostat, regulates body temperature through a thermoregulatory setpoint. It receives signals from cold and warm thermal receptors throughout the body and adjusts the body's temperature accordingly. Fever occurs when this hypothalamic setpoint is altered, usually in response to an infection or illness.
01:19Type I Diabetes III: Clinical Manifestations
Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
01:21Barrett Esophagus-II: Clinical Manifestations and Management
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...