Temple syndrome

Temple syndrome, also known as TS14, is a rare genetic disorder that affects growth and development in individuals. The cardinal features of this condition include:

• Low birth weight
• Hypotonia (decreased muscle tone)
• Motor delay
• Feeding problems early in life
• Early puberty
• Significantly reduced final height

This syndrome is caused by aberrations at the 14q32.2 imprinted region, which can result from maternal uniparental disomy of chromosome 14, paternal deletion of 14q32, or an isolated methylation defect of the MEG3-DMR [1][4].

Individuals with Temple syndrome may also experience other symptoms, such as:

• Prenatal growth failure
• Small hands and/or feet
• Joint hypermobility

It's worth noting that Temple syndrome is a short stature disorder of imprinting, and its diagnosis can be delayed due to the scarcity of studies on phenotypical characteristics [3][13].

References: [1] - The most common symptoms were prenatal growth failure (100%), neonatal hypotonia (100%), small hands and/or feet (100%), joint hypermobility (67%) [5] [2] - Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height [7] [3] - Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health [13] [4] - Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations [6] [5] - The most common symptoms were prenatal growth failure (100%), neonatal hypotonia (100%), small hands and/or feet (100%), joint hypermobility (67%) [5] [7] - Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height [7] [13] - Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health [13]

Temple Syndrome: A Rare Genetic Condition

Temple syndrome, also known as Temple-Kagami syndrome, is a rare genetic disorder characterized by a range of symptoms that affect growth and development.

Common Signs and Symptoms:

• Growth Delay: Babies and children with Temple syndrome may experience pre- and postnatal growth retardation, leading to small stature.
• Hypotonia: Muscle weakness or hypotonia is a common feature, making it difficult for individuals to control their muscles.
• Motor Development Delay: Delays in motor skills development, such as crawling, walking, and talking, are also observed.
• Feeding Difficulties: Infants with Temple syndrome may experience feeding difficulties, which can lead to growth delays.
• Early Puberty: Early onset of puberty is a characteristic feature of Temple syndrome.
• Facial Dysmorphism: Mild facial dysmorphism, such as broad forehead, short nose, and downturned corners of the mouth, are common features.
• Small Hands and Feet: Individuals with Temple syndrome may have small hands and feet.

Other Symptoms:

• Obesity: Some individuals may experience truncal obesity, particularly in childhood.
• Reduced Final Height: Adults with Temple syndrome often have reduced final height due to growth delays during childhood.
• Variable Developmental Delay: Developmental delay can range from mild to severe, affecting various aspects of development.

References:

• [2] - Temple syndrome is a rare genetic disease that presents with a variety of symptoms, including growth delay, issues with feeding, motor development delay, and unique facial features.
• [5] - The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height.
• [9] - TS is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems in early life, early puberty, and having small hands and feet.
• [10] - Other symptoms of Temple syndrome can include gaining weight easily as a child

Diagnostic Tests for Temple Syndrome

Temple syndrome, also known as maternal uniparental disomy 14 (UPD14), is a rare genetic disorder that can be challenging to diagnose. However, various diagnostic tests are available to confirm the condition.

• Genetic Testing: Genetic testing is considered the gold standard for diagnosing Temple syndrome. This test involves analyzing DNA from blood or other tissues to detect uniparental disomy of chromosome 14 (UPD14) [3]. The test can also identify hetero- or isodisomy, which are conditions where there is an abnormal number of copies of the chromosome [13].
• Methylation Status Testing: Methylation status testing at the IG-DMR can help identify Temple syndrome. This test involves analyzing DNA methylation patterns to determine if there is a change in methylation status that is associated with the condition [1].
• Clinical Evaluation: A clinical evaluation by a genetic specialist is essential for diagnosing Temple syndrome. The specialist will assess the individual's medical history, physical characteristics, and developmental milestones to determine if they have any features consistent with the condition [4].

Additional Diagnostic Tests

Other diagnostic tests that may be used to support the diagnosis of Temple syndrome include:

• Facial Analysis: Facial analysis using AI technology can help identify individuals who may have Temple syndrome. This involves analyzing facial features to determine if there are any characteristics that are associated with the condition [4].
• Imaging Studies: Imaging studies, such as X-rays or MRIs, may be used to rule out other conditions that may cause similar symptoms.

Important Considerations

It's essential to note that Temple syndrome can be difficult to diagnose, and a combination of genetic testing, clinical evaluation, and imaging studies may be necessary to confirm the condition. A consultation with a clinical genetic specialist is recommended for accurate diagnosis and management.

References:

[1] Context 2 [3] Context 13 [4] Context 4

Treatment Options for Temple Syndrome

Temple syndrome, a rare genetic condition, requires a multidisciplinary approach to treatment. While there is no cure for the condition, various therapies can help manage its symptoms and improve quality of life.

• Growth Hormone (GH) Therapy: GH therapy has been shown to be effective in treating growth hormone deficiency (GHD) associated with Temple syndrome [2]. Studies have demonstrated that GH treatment can improve height and weight gain in patients with TS14 [5, 12].
• Nutritional Support: Proper nutrition is essential for individuals with Temple syndrome. A pediatric endocrinologist, a nutritionist, and other healthcare professionals may work together to develop a personalized dietary plan [1].
• Multidisciplinary Care: A team of specialists, including a pediatric endocrinologist, a geneticist, a psychologist, and other relevant experts, can provide comprehensive care for individuals with Temple syndrome [9].

Limitations and Future Directions

While GH therapy has shown promise in treating Temple syndrome, more research is needed to fully understand its effectiveness. Additionally, the development of targeted treatments and multidisciplinary life-long care may improve outcomes for patients with TS14 [9, 10].

References:

[1] Context result 1 [2] Context result 2 [5] Context result 5 [9] Context result 9 [10] Context result 10 [12] Context result 12

Temple syndrome, also known as TS14, is a rare genetic disorder characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay, and other features.

The differential diagnosis for Temple syndrome includes:

• Silver-Russell syndrome: This condition is another type of genomic imprinting disorder that can present with similar symptoms to Temple syndrome.
• Prader-Willi syndrome (PWS): PWS is a genetic disorder that shares many features with Temple syndrome in infancy and childhood, including feeding difficulties, growth delay, and developmental delays.

According to the literature [6][9], the differential diagnosis for Temple syndrome also includes Prader Willi syndrome. In fact, studies have shown that Temple syndrome and Prader-Willi syndrome share many features in infancy and childhood [4][9].

It's worth noting that the diagnosis of TS14 is based primarily on genetic rather than clinical findings [5]. Therefore, a comprehensive diagnostic workup including genetic testing is essential to distinguish Temple syndrome from other conditions.

References:

[6] Temple syndrome is a rare genetic disorder characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay, [9] The differential diagnosis includes Prader Willi syndrome. Testing. We would strongly recommend taking blood or DNA from both parents as well as the child ...