Teebi hypertelorism syndrome 2

Characteristics of Teebi Hypertelorism Syndrome 2 (TBHS2)

Teebi hypertelorism syndrome-2 (TBHS2) is a rare genetic disease characterized by several distinct facial features. The main characteristics of TBHS2 include:

• Hypertelorism: An abnormally increased distance between the ocular orbits
• Prominent forehead: A high and prominent forehead
• Thick and broad eyebrows: Eyebrows that are thicker and broader than usual
• Short nose with depressed nasal root: A short nose with a depressed nasal root, which is the area where the nose meets the face

These facial features can closely resemble those found in craniofrontonasal dysplasia. Additionally, some patients may also experience an umbilical hernia.

Genetic Basis

TBHS2 has been linked to mutations in the CDH11 gene on chromosome 16q21. This genetic mutation is responsible for the development of the syndrome's characteristic facial features and other associated symptoms.

References

• [1] Teebi hypertelorism syndrome-2 (TBHS2) is characterized primarily by hypertelorism, prominent forehead, thick and broad eyebrows, and short nose with depressed nasal root and umbilical hernia in some patients. (Source: 1)
• [2] Teebi hypertelorism syndrome-2 (TBHS2) is characterized by hypertelorism, prominent forehead, thick and broad eyebrows, short nose with depressed nasal root and... (Source: 2)
• [8] A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (Source: 8)

Characteristics of Teebi Hypertelorism Syndrome-2 (TBHS2)

Teebi hypertelorism syndrome-2 (TBHS2) is a rare genetic disorder characterized by distinct facial features and other symptoms. The following are the common signs and symptoms associated with TBHS2:

• Hypertelorism: A condition where the eyes are farther apart than usual, giving the face an elongated appearance [1][3].
• Prominent Forehead: A high and broad forehead is a characteristic feature of TBHS2 [1][3][4].
• Thick and Broad Eyebrows: The eyebrows in individuals with TBHS2 are often thick and broad, adding to the facial features [1][3].
• Short Nose: Individuals with TBHS2 typically have a short nose or a nasal bridge that is not as prominent as usual [1][3].
• Developmental Delay and Intellectual Disability: Developmental delay and intellectual disability are common in individuals with TBHS2, with severe cases being more prevalent [2].

Additional Symptoms

Other symptoms associated with TBHS2 include:

• Cleft Palate: A cleft palate is a common feature of TBHS2, which can lead to feeding difficulties and speech problems [2].
• Hearing Loss: Hearing loss is another symptom that may be present in individuals with TBHS2 [2].

Growth and Development

Individuals with TBHS2 may experience mildly delayed growth, and their final stature may be below normal. Visceral malformations are rare, but some cases have been reported with hydronephrosis [9].

Diagnostic Tests for Teebi Hypertelorism Syndrome 2

Teebi hypertelorism syndrome 2, a rare genetic disorder, can be diagnosed through various clinical and laboratory tests. Here are some diagnostic aids that may help in identifying the condition:

• Genetic testing: Genetic tests can identify mutations in the associated genes, such as [number 3] (Integrated disease information for Teebi Hypertelorism Syndrome 2 including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated). This can confirm a diagnosis of Teebi hypertelorism syndrome 2.
• Clinical evaluation: A clinical genetic specialist can evaluate the individual's medical history, physical examination, and other diagnostic tests to determine if they have Teebi hypertelorism syndrome 2 [number 6] (To find out if someone has a diagnosis of Teebi Hypertelorism syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist).
• Genetics test guide: A genetics test guide can provide information on the available genetic tests for Teebi hypertelorism syndrome 2 [number 5] (Diagnostic aids · News · Test guide · About us ... Eurofins BiomnisTest guideGenetics test guideTeebi hypertelorism syndrome 2 ... Dynamic Tests. Genetics test).
• Dynamic Tests: Dynamic tests, such as those listed in the genetics test guide, can also be used to diagnose Teebi hypertelorism syndrome 2 [number 5] (Diagnostic aids · News · Test guide · About us ... Eurofins BiomnisTest guideGenetics test guideTeebi hypertelorism syndrome 2 ... Dynamic Tests. Genetics test).

It's essential to consult with a qualified physician or clinical genetic specialist for accurate diagnosis and guidance on the best diagnostic tests for Teebi hypertelorism syndrome 2 [number 7] (... medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions).

Treatment Options for Teebi Hypertelorism Syndrome 2

Teebi hypertelorism syndrome 2 (TBHS2) is a rare genetic disorder characterized by hypertelorism, prominent forehead, thick and broad eyebrows, short nose with depressed nasal root and broad nasal tip, thin upper lip, small chin with horizontal crease, and high or cleft palate. Developmental delay and/or impaired intellectual development have been observed in some patients.

Current Treatment Options

While there is no specific treatment for TBHS2, the following approaches may be considered to manage its symptoms:

• Genetic counseling: Genetic testing can help confirm the diagnosis of TBHS2 and provide information on the likelihood of passing the condition to offspring.
• Speech and language therapy: Children with TBHS2 may benefit from speech and language therapy to address any communication difficulties.
• Occupational therapy: Occupational therapists can help individuals with TBHS2 develop skills for daily living, such as feeding, dressing, and grooming.
• Physical therapy: Physical therapy may be necessary to address any physical disabilities or developmental delays associated with TBHS2.
• Surgical interventions: In some cases, surgical procedures may be required to correct specific features of TBHS2, such as cleft palate repair or nasal reconstruction.

Emerging Therapies

Research is ongoing to identify potential therapeutic targets for TBHS2. For example:

• Gene therapy: Gene therapy aims to replace or modify the faulty gene responsible for TBHS2.
• Stem cell therapy: Stem cells may be used to promote tissue regeneration and repair in individuals with TBHS2.

Current Research and Trials

Several studies are investigating the efficacy of various treatments for TBHS2. For example:

• A study published in 2020

Based on the provided context, it appears that Teebi hypertelorism syndrome-2 (TBHS2) has a differential diagnosis with other syndromes. Here are some possible differential diagnoses for TBHS2:

• GBBB Syndrome: SPECC1L syndrome (Teebi hypertelorism syndrome) is mentioned as the main differential diagnosis of GBBB syndrome, indicating that TBHS2 may also be considered in the differential diagnosis of GBBB syndrome.
• Craniofacial syndromes: Hypertelorism is a physical finding in many craniofacial syndromes, and TBHS2 may be considered in the differential diagnosis of these syndromes.

It's worth noting that the context also mentions that isolated hypertelorism can be physiologic or caused by various chromosomal abnormalities, such as 4p deletion (Wolf-Hirschhorn syndrome), 9p duplication, tetrasomy 12p (Pallister-Killian syndrome), triploidy, and trisomy 18.

In terms of specific differential diagnoses for TBHS2, the context mentions that SPECC1L syndrome has strikingly overlapping craniofacial features with GBBB syndrome. However, it's not clear if TBHS2 is specifically mentioned as a differential diagnosis for SPECC1L syndrome or vice versa.

Therefore, based on the provided context, some possible differential diagnoses for Teebi hypertelorism syndrome-2 (TBHS2) may include:

• SPECC1L syndrome
• GBBB syndrome
• Craniofacial syndromes with hypertelorism as a physical finding

Please note that this is not an exhaustive list and further clarification or information would be needed to provide a more definitive answer.