Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by several distinct features.

Physical Characteristics

• Broad thumbs and toes, also known as halluces [1][2]
• Short stature [3][4]
• Distinctive facial features, which can include:
  • Highly arched eyebrows [5][6]
  • Microcephaly (small head size) [7][8]
  • Prominent nose and jaw [9]

Intellectual Disability

• Varying degrees of intellectual disability, with an average IQ range of 25-79 [10][11]

Other Features

• Eye abnormalities [12]
• Heart and kidney defects [13]
• Dental problems [14]
• Obesity [15]

These physical characteristics and symptoms can vary among affected individuals. Rubinstein-Taybi syndrome is a rare genetic condition, with an estimated prevalence of one case per 125,000 live births [16].

Common Signs and Symptoms of Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by a range of physical and developmental symptoms. The following are some of the common signs and symptoms associated with RTS:

• Distinctive Facial Features: Individuals with RTS often have distinctive facial features, including downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps [1][2].
• Broad Thumbs and Toes: One of the hallmark signs of RTS is broad thumbs and toes, which can be either symmetrical or asymmetrical [3][4].
• Short Stature: Individuals with RTS often have short stature, which can range from mild to severe [5][6].
• Intellectual Disability: RTS is associated with moderate to severe intellectual disability, ranging from mild cognitive impairment to profound intellectual disability [7][8].
• Constipation: Constipation is a common symptom of RTS, and may be present in up to 50% of individuals with the condition [9].
• Excess Hair on Body (Hirsutism): Some individuals with RTS may experience excess hair growth on the body, particularly on the face, chest, and back [10][11].
• Heart Defects: Heart defects are a potential complication of RTS, and may require surgical intervention in some cases [12].

It's essential to note that not all individuals with RTS will exhibit all of these symptoms, and the severity of each symptom can vary widely from person to person. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[1] Context result 4 [2] Context result 14 [3] Context result 1 [4] Context result 12 [5] Context result 15 [6] Context result 8 [7] Context result 13 [8] Context result 9 [9] Context result 6 [10] Context result 11 [11] Context result 2

Diagnostic Tests for Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RTS) is a genetic disorder that can be diagnosed through various tests and evaluations. While the diagnosis is primarily based on clinical examination, several diagnostic tests can help confirm the presence of RTS.

• Genetic testing: Genetic tests can identify variants in either of two genes (CREBBP or EP300) that are associated with RTS. These tests can establish or confirm the diagnosis, identify risks for additional related symptoms, and assist in genetic counseling [5][7].
• Microarray: Microarray analysis can detect chromosomal abnormalities, including those associated with RTS [8].
• Whole exome sequencing (WES): WES is a comprehensive genetic test that can identify variants in all protein-coding genes, including those associated with RTS [8].
• Targeted sequencing of CBP and EP300: This test specifically targets the genes associated with RTS and can help confirm the diagnosis [8].

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be performed to rule out or confirm related conditions. These include:

• Blood tests: Blood tests may be done to evaluate for anemia, bleeding disorders, or other metabolic abnormalities.
• X-rays: X-rays may be taken to assess bone growth and development.
• Electroencephalogram (EEG): An EEG may be performed to evaluate for seizures or other neurological conditions.

Diagnostic Teams

A diagnostic team for Rubinstein-Taybi syndrome may include:

• Endocrinology: To evaluate for hormonal imbalances or growth disorders.
• Genetics: To provide genetic counseling and testing.
• Nephrology: To assess kidney function and development.
• Ophthalmology: To evaluate eye health and vision.

It's essential to note that the diagnosis of RTS is primarily based on clinical examination, and these diagnostic tests are used to support or confirm the diagnosis. A multidisciplinary team approach can provide comprehensive care for individuals with RTS.

References:

[5] - Genetic testing for Rubinstein-Taybi syndrome can: Establish or confirm the appropriate diagnosis; Identify risks for additional related symptoms; Assist in genetic counseling. [7] - Genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. [8] - Workup in Rubinstein-Taybi syndrome · Microarray · Whole exome sequencing (WES) · Targeted sequencing of CBP and EP300.

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical abnormalities. While there is no cure for RTS, various drug treatments have been explored to manage its symptoms.

Management of Intellectual Disability

• Medications such as melatonin, risperidone, and clonidine may be used to help manage behavioral problems associated with intellectual disability in individuals with RTS [1].
• Stimulants like methylphenidate can also be prescribed to improve attention and reduce hyperactivity symptoms [2].

**Management

Differential Diagnosis of Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that can be challenging to diagnose due to its broad phenotypic spectrum and overlapping features with other conditions. The differential diagnosis of RTS involves considering several syndromes that share similar clinical features.

Conditions to Consider:

• Saethre-Chotzen Syndrome: This syndrome, caused by mutations in the TWIST1 gene, shares similarities with RTS, including craniosynostosis, facial dysmorphia, and limb abnormalities [6].
• Floating Harbor Syndrome: Characterized by intellectual disability, facial dysmorphia, and short stature, this syndrome can be difficult to differentiate from RTS [7].
• Cornelia de Lange Syndrome: This rare genetic disorder presents with similar features to RTS, including intellectual disability, facial dysmorphia, and limb abnormalities [7].

Key Features for Differential Diagnosis:

To distinguish RTS from these conditions, clinicians should look for the following key features:

• Facial Dysmorphia: While all three syndromes share facial dysmorphia, RTS is characterized by a distinctive facial appearance, including a broad nose, long eyelashes, and a prominent forehead [4].
• Limb Abnormalities: RTS is marked by distal limb anomalies, such as broad thumbs and halluces, which are not typically seen in Saethre-Chotzen or Floating Harbor syndromes [9].
• Intellectual Disability: While all three conditions involve intellectual disability, the severity and nature of cognitive impairment can help differentiate them. RTS is often associated with moderate-to-severe intellectual disability [10].

Genetic Testing:

In cases where a diagnosis remains uncertain, genetic testing can be employed to confirm or rule out RTS. Molecular tests have been shown to be effective in confirming RTS in approximately 55-78% of cases [12].

References:

[4] Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription [4].

[6] FGFR-related craniosynostosis syndromes - Pfeiffer and Saethre-Chotzen syndromes; craniosynostosis is a major feature in both [6].

[7] Floating Harbor Syndrome: Characterized by intellectual disability, facial dysmorphia, and short stature, this syndrome can be difficult to differentiate from RTS [7].

[9] Broad great toes · Broad thumbs with radial angulation · Broadness of other fingers · Persistent fetal finger pads · Syndactyly and polydactyly [9].

[10] Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability [10].