Temtamy syndrome

Temtamy Syndrome Signs and Symptoms

Temtamy syndrome is a rare congenital genetic neurological disorder characterized by various physical and developmental abnormalities. The signs and symptoms of this condition can vary in severity and presentation, but here are some common features:

• Facial Features: Children with Temtamy syndrome often have distinctive facial characteristics, including:
  • Macrodolichocephaly (a long and narrow head shape)
  • Arched eyebrows
  • Antimongoloid eye slant (eyes that are widely spaced and angled upwards)
  • Beaked nose
  • Low-set ears
  • Lop ears (ears that are folded back against the head)
  • Long philtrum (the groove between the upper lip and nose)
  • Short upper lip [3][7]
• Intellectual Disability: Most children with Temtamy syndrome have moderate to severe intellectual disability, which can range from mild learning difficulties to significant cognitive impairment [11].
• Seizures: Intractable seizures are a common feature of Temtamy syndrome, and can be challenging to control [5][13].
• Developmental Delay: Children with this condition often experience developmental delays, particularly in areas such as language development and motor skills [4][11].
• Ocular Disorders: Some individuals with Temtamy syndrome may have ocular coloboma (a hole or defect in the eye) or other eye abnormalities [1][5].
• Craniofacial Dysmorphism: This condition is characterized by variable craniofacial dysmorphism, which can include features such as a long face and hypertelorism (widely spaced eyes) [8].

These signs and symptoms can vary in severity and presentation, and may not be present in every individual with Temtamy syndrome. A diagnosis of this condition is typically made based on a combination of clinical evaluation, brain imaging, and genetic testing.

Diagnostic Tests for Temtamy Syndrome

Temtamy syndrome can be diagnosed through a combination of clinical evaluation, brain imaging, and genetic testing.

• Brain Imaging: Brain imaging studies such as MRI (Magnetic Resonance Imaging) may show changes in the way the corpus callosum or white matter of the brain developed. This can help confirm the diagnosis of Temtamy syndrome [8].
• Genetic Testing: Genetic testing is recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and guide treatment decisions [7]. Diagnostic testing of the C12orf57 gene, which is associated with Temtamy syndrome, may be performed using Next-Gen sequencing with additional Sanger sequencing as necessary [6].
• Clinical Evaluation: A thorough clinical evaluation by a qualified healthcare professional is essential to diagnose Temtamy syndrome. This involves observing symptoms and performing a physical examination to identify characteristic features of the condition.
• Other Diagnostic Tests: Cardiovascular assessment, including an ECG (electrocardiogram), echocardiogram, and catheterization, may be necessary to evaluate cardiovascular function in individuals with Temtamy syndrome [5].

It's essential to note that a diagnosis of Temtamy syndrome can only be confirmed through genetic testing. A healthcare professional should consult with a genetics specialist or other relevant experts to determine the best course of action for diagnostic testing and treatment.

References:

[5] - Cardiovascular assessment is very important and must include an ECG, echocardiogram, and eventually a catheterization. [6] - Testing Strategy. This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary. [7] - C12orf57. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. [8] - Brain imaging such as an MRI may show changes in the way the corpus callosum or white matter of the brain developed.

Treatment Options for Temtamy Syndrome

Temtamy syndrome, a rare genetic disorder, requires comprehensive management to address its various symptoms. While there is no specific treatment available for the syndrome, medications and therapies can help alleviate some of its manifestations.

• Seizure Management: Medications such as anticonvulsants may be prescribed to control seizures, which are a common feature of Temtamy syndrome (8). Intractable epilepsy, in particular, has been reported in 47% of patients with the condition (8).
• Developmental Delays: Therapies like occupational and physical therapy can help manage developmental delays associated with Temtamy syndrome. These therapies aim to improve motor skills, cognitive function, and overall quality of life.
• Medications for Associated Symptoms: Depending on the individual's specific symptoms, medications may be prescribed to address conditions such as hypotonia, intellectual disability, or other related issues.

It is essential to note that treatment plans should be tailored to each patient's unique needs and may involve a multidisciplinary approach. Consultation with a healthcare professional is crucial for developing an effective management plan (3).

References:

• [8] - In patients with Temtamy syndrome, there is a spectrum seen in Epilepsy, with 65% having sz, with 47% having intractable Epilepsy (polytherapy, Abnormal EEG & ...
• [3] - The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment ...

Based on the provided context, the differential diagnosis for Temtamy syndrome includes:

• Muscle-eye-brain disease
• Peters-plus syndrome
• Walker-Warburg syndrome
• Aicardi syndrome
• Donnai-Barrow syndrome
• Baraitser-Winter syndrome

These conditions are mentioned in search result 10 as potential differential diagnoses for Temtamy syndrome. It's worth noting that the exact criteria for differentiating these conditions from Temtamy syndrome may vary, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.

According to search result 11, an autosomal recessive mutation seems to be responsible for Temtamy syndrome, which can help in differentiating it from other conditions. Additionally, search result 13 mentions that Temtamy syndrome is characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus.

It's also mentioned in search result 12 that a child with features resembling Temtamy syndrome had profound mental retardation, bilateral ptosis, malformed and low-set ears, depressed nasal bridge, long philtrum, and iris and chorioretinal colobomas. This information can be useful in differentiating Temtamy syndrome from other conditions.

Overall, the differential diagnosis for Temtamy syndrome involves a comprehensive evaluation of clinical features, genetic testing, and consultation with specialists such as ophthalmologists, clinical geneticists, neurologists, and cardiologists, as mentioned in search result 11.