Teebi hypertelorism syndrome 1

Teebi Hypertelorism Syndrome-1 (TBHS1)

Teebi hypertelorism syndrome-1 (TBHS1) is a rare genetic disorder characterized by an abnormally increased distance between the ocular orbits, known as hypertelorism. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Key Features:

• Hypertelorism: An abnormally increased distance between the ocular orbits.
• Upslanting palpebral fissures: The eyelids slant upwards when looking straight ahead.
• Prominent forehead: A more pronounced forehead than usual.
• Broad and depressed nasal bridge with short nose: A broad and flat nasal area with a short nose.
• Thick eyebrows: Heavy and broad eyebrows.
• Widow's peak: A V-shaped hairline at the front of the head.

Other Possible Features:

• Short stature
• Natal teeth (teeth present at birth)
• Thin upper lip
• Everted lower lip
• Small chin

References:

• Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism, upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. [6]
• TBHS1 is an autosomal dominant disorder characterized by hypertelorism, upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. [11]

Characteristics of Teebi Hypertelorism Syndrome-1 (TBHS1)

Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by several distinct physical features. The clinical manifestations of TBHS1 include:

• Hypertelorism: This refers to an abnormally increased distance between the eyes, resulting in a wider-than-normal interocular distance.
• Upslanting palpebral fissures: The eyelids are slanted upwards, giving the eyes a distinctive appearance.
• Prominent forehead: A noticeable prominence of the forehead is a characteristic feature of TBHS1.
• Anteverted nares: The nostrils are turned upwards, which can be a distinguishing feature of this syndrome.

These physical characteristics are often present at birth or become apparent in early childhood. It's essential to note that each individual with TBHS1 may exhibit varying degrees of these features, and some may have additional symptoms not listed here.

References:

• [1] The description of hypertelorism as a characteristic feature of TBHS1 is supported by the information provided in search result 1.
• [2] The mention of upslanting palpebral fissures as a symptom of TBHS1 is consistent with the details given in search result 2.
• [4] The prominent forehead and anteverted nares are also mentioned as features of TBHS1, as described in search result 4.

Diagnostic Tests for Teebi Hypertelorism Syndrome 1

Teebi hypertelorism syndrome 1 (TBHS1) is a rare autosomal dominant disorder characterized by hypertelorism, upslanting palpebral fissures, and other distinct facial features. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Testing: Genetic testing can be performed on a blood sample or DNA to identify mutations in the SPECC1L gene associated with TBHS1 [1][2]. This test is available from various labs around the world, including those in the US.
• Clinical Evaluation: A thorough clinical evaluation by a medical professional is necessary to assess the presence of characteristic features such as hypertelorism, upslanting palpebral fissures, and other distinct facial features [3][4].
• Imaging Studies: Imaging studies like MRI or CT scans may be ordered to rule out other conditions that may present with similar symptoms.

It's essential to consult a genetic counselor or a medical professional experienced in diagnosing rare disorders for accurate diagnosis and guidance on the best course of action.

Treatment Options for Teebi Hypertelorism Syndrome 1

Teebi hypertelorism syndrome 1 (TBHS1) is a rare genetic disorder characterized by hypertelorism, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. While there is no specific cure for TBHS1, various treatment options can help manage its symptoms and associated conditions.

Medical Management

• Genetic counseling: Genetic specialists can provide guidance on the inheritance pattern of TBHS1 and offer support to families affected by the condition.
• Multidisciplinary care: A team of healthcare professionals, including geneticists, pediatricians, orthopedic surgeons, and ophthalmologists, can work together to manage the various aspects of TBHS1.
• Surgical interventions: In some cases, surgical procedures may be necessary to correct physical abnormalities, such as cleft palate or umbilical malformations.

Pharmacological Interventions

While there are no specific medications approved for the treatment of TBHS1, various drugs can help manage associated conditions, such as:

• Antibiotics: For infections related to umbilical malformations or other congenital anomalies.
• Pain management medications: To alleviate pain and discomfort associated with physical abnormalities or surgical procedures.

Emerging Therapies

Research is ongoing to identify potential therapeutic targets for TBHS1. Some emerging therapies that may be relevant to the treatment of TBHS1 include:

• Gene therapy: Experimental approaches aimed at correcting the genetic mutation responsible for TBHS1.
• Stem cell therapy: Investigational treatments using stem cells to repair or replace damaged tissues.

Important Considerations

It is essential to note that each individual with TBHS1 may have unique needs and treatment requirements. A comprehensive evaluation by a qualified healthcare professional is necessary to determine the most effective course of treatment for each patient.

References:

• [12] Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum.
• [13] Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum.
• [15] This paper expanded the phenotypic spectrum of Teebi hypertelorism syndrome and elaborated molecular characteristics of SPECC1L mutations.

Based on the provided context, differential diagnoses for Teebi hypertelorism syndrome (TBHS) include:

• Opitz GBBB syndrome [number 2]
• Craniofrontonasal dysplasia [number 11]
• Aarskog syndrome [number 3]
• Gorlin syndrome [number 10]
• Carpenter syndrome [number 10]
• Acrocallosal syndrome [number 10]
• Preaxial polydactyly type 4 [number 10]
• GCPS contiguous gene syndrome [number 10]

These conditions share similar craniofacial manifestations with TBHS, such as hypertelorism, prominent forehead, and broad nasal bridge. Molecular diagnostics are essential to arrive at a correct diagnosis and differentiate these conditions from TBHS.

It's worth noting that the main differential diagnosis of SPECC1L-related hypertelorism syndrome (Teebi hypertelorism syndrome) is Opitz GBBB syndrome [number 4].