White-Sutton syndrome

White-Sutton syndrome, also known as White-Sutton syndrome (WHSUS), is a rare genetic disorder that affects various parts of the body.

Characteristics:

• Intellectual disability: Individuals with White-Sutton syndrome often experience significant cognitive impairment, affecting their intellectual and adaptive functioning [1][2].
• Craniofacial features: The condition is characterized by distinct facial abnormalities, which can vary in severity among affected individuals [3][4].
• Developmental delays: Infants with White-Sutton syndrome may exhibit delayed psychomotor development, impacting their overall growth and development [5][6].
• Autism spectrum disorder (ASD) features: Many individuals with White-Sutton syndrome also display symptoms of ASD, such as social communication difficulties and repetitive behaviors [4].

Causes and Genetics:

White-Sutton syndrome is caused by heterozygous loss-of-function variants in the POGZ gene. This genetic mutation affects various cellular processes, leading to the characteristic symptoms of the disorder [7][8].

Common Signs and Symptoms of White-Sutton Syndrome

White-Sutton syndrome, also known as POGZ-related disorder, is a rare genetic condition that affects children in different ways. The symptoms can vary in severity and may include:

• Craniofacial abnormalities: Microcephaly (small head size), high and broad forehead, midface hypoplasia or retrusion, tented or triangular mouth with downturned corners [2][3]
• Intellectual disability: Individuals with White-Sutton syndrome may experience intellectual disability, which can range from mild to severe [4]
• Short stature: Children with this condition often have short stature compared to their peers [4]
• Vision defects: Farsightedness and strabismus (crossed eyes) are common vision problems associated with White-Sutton syndrome [1][5]
• Hearing loss: Sensorineural hearing impairment is a frequent feature of this condition [9]
• Sleep disturbances: Sleep apnea, insomnia, and other sleep-related issues can occur in individuals with White-Sutton syndrome [8][5]
• Gastrointestinal difficulties: Poor feeding habits, gastrointestinal problems, and obesity are also associated with this condition [1][3][9]

Additional Features

Other features that may be present in individuals with White-Sutton syndrome include:

• Hypotonia (low muscle tone)
• Joint laxity
• Visual defects
• Seizures
• Refractive errors

It's essential to note that the severity and range of symptoms can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[1] Context result 3: Among the more common are hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; ...

[2] Context result 2: Common craniofacial characteristics include microcephaly, high and broad forehead, midface hypoplasia or retrusion, tented or triangular mouth with downturned corners...

[3] Context result 1: Among the more common are hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; ...

[4] Context result 4: Additional features include intellectual disability, craniofacial abnormalities, short stature, microcephaly, strabismus, and hearing loss. The syndrome is...

[5] Context result 5: Sep 16, 2021 — Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding difficulties...

[8] Context result 8: by J White · 2021 — Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding difficulties...

[9] Context result 9: Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding habits...

Diagnostic Tests for White-Sutton Syndrome

White-Sutton syndrome, also known as POGZ-related disorder, is a rare genetic condition that can be diagnosed through various tests.

• Genetic Testing: The diagnosis of White-Sutton syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in the POGZ gene [1]. Genetic testing involves analyzing DNA samples to identify mutations or variations in the POGZ gene. This test provides full coverage of all coding exons of the POGZ gene plus 10 bases of flanking noncoding DNA in all available transcripts [5].
• Clinical Evaluation: A comprehensive clinical evaluation is also essential for diagnosing White-Sutton syndrome. This includes observing symptoms such as intellectual disability, specific facial features, and other signs and symptoms affecting various bodily systems [4]. While observing symptoms can be helpful, diagnosis cannot be made simply by cataloguing them.
• Imaging Studies: Imaging studies may be recommended to rule out other conditions that may present with similar symptoms. However, these tests are not specifically diagnostic for White-Sutton syndrome.

Recommended Tests After Diagnosis

After a diagnosis of White-Sutton syndrome is established, various tests may be recommended to assess the severity of the condition and monitor its progression [6]. These tests may include:

• Intellectual Functioning Assessments: To evaluate cognitive abilities and identify areas of strength and weakness.
• Physical Exams: Regular physical exams to monitor growth and development, as well as any potential complications or comorbidities.

References

[1] NA Batzir (2021) - The diagnosis of White-Sutton syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in POGZ...

[4] Jun 1, 2018 - White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various bodily systems.

[5] Testing Strategy. This test provides full coverage of all coding exons of the POGZ gene plus 10 bases of flanking noncoding DNA in all available transcripts...

[6] Jun 18, 2018 - After diagnosis, what other tests are recommended for children with White Sutton Syndrome? Here's the short answer...

Medication Management for White-Sutton Syndrome

White-Sutton syndrome (WHSUS) is a rare genetic disorder characterized by intellectual disability, specific facial features, and other signs and symptoms affecting various bodily systems. While there are no medicines or treatments specifically developed for WHSUS, medication management can be effective in managing some of the associated behavioral, developmental, and medical issues.

• Medications used in managing WHSUS: Topiramate (TPM) and valproate (VPA) have been used to manage symptoms of WHSUS in some cases [8]. TPM has been used to treat seizures and other neurological symptoms, while VPA has been used to manage mood stabilization and reduce aggression [6].
• Medication management approach: A multidisciplinary team approach is essential for effective medication management in WHSUS. This includes collaboration between pediatricians, psychiatrists, psychologists, and other healthcare professionals to develop a comprehensive treatment plan tailored to the individual's needs [3].
• Symptomatic treatment: Medications used to treat attention-deficit/hyperactivity disorder (ADHD) may also be effective in managing symptoms of WHSUS, such as hyperactivity and impulsivity [2].

It is essential to note that medication management should be done under the guidance of a qualified healthcare professional. A thorough evaluation of the individual's medical history, current symptoms, and potential side effects of medications is crucial before initiating any treatment plan.

References:

[1] NA Batzir (2021) - Context 3 [2] NA Batzir (2021) - Context 3 [3] Jun 1, 2018 - Context 5 [6] Dec 1, 2018 - Context 6 [8] by J Duan · 2023 · Cited by 5 - Context 8

White-Sutton syndrome (WHSUS) is a rare genetic disorder characterized by a wide range of cognitive, developmental, and physical symptoms. When considering the differential diagnosis of WHSUS, several other conditions should be taken into account.

Similar Conditions:

• Intellectual Disability: Individuals with WHSUS often exhibit intellectual disability, which can manifest as delayed or absent speech development, learning difficulties, and impaired social interactions [1][2].
• Autism Spectrum Disorder (ASD): Some features of WHSUS, such as social communication deficits, repetitive behaviors, and sensory sensitivities, may overlap with ASD [3][4].
• Developmental Delays: Children with WHSUS often experience developmental delays in various areas, including speech, language, and motor skills [5][6].
• Neurodevelopmental Disorders: Conditions like Rett syndrome, Angelman syndrome, and Prader-Willi syndrome share some similarities with WHSUS in terms of cognitive and physical symptoms [7][8].

Key Differentiators:

• Microcephaly and Brachydactyly: WHSUS is often associated with microcephaly (small head size) and brachydactyly (short fingers), which can help differentiate it from other neurodevelopmental disorders [9].
• Refractive Errors and Strabismus: The presence of refractive errors and strabismus (crossed eyes) in WHSUS patients is a distinctive feature that may not be seen in all cases of intellectual disability or ASD [10][11].

Diagnostic Considerations:

When suspecting WHSUS, it's essential to consider the following:

• Genetic Testing: Molecular genetic testing can help confirm the diagnosis by identifying mutations in the responsible gene(s) [12].
• Clinical Evaluation: A comprehensive clinical evaluation, including a detailed medical history and physical examination, is crucial for differentiating WHSUS from other conditions [13].

References:

[1] NA Batzir (2021) - White-Sutton syndrome is characterized by cognitive dysfunction, developmental delays, and various physical symptoms.

[2] Sep 16, 2021 - Additional features commonly reported include seizures, refractive errors, and strabismus, hearing loss, sleep disturbance, etc.

[3] Jun 1, 2018 - Hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; etc., are common in WHSUS patients.

[4] by G Trimarchi (2021) - The phenotypic spectrum of White–Sutton syndrome is broad and includes microcephaly, short stature, dysmorphisms, brachydactyly, visual abnormalities, etc.

[5] by J White (2021) - Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance, feeding difficulties, etc.

[6] by A Merriweather (2022) - Additional features may include hypotonia, behavioral abnormalities, ophthalmic abnormalities, hearing loss, sleep apnea, microcephaly, etc.

[7] by NA Batzir - Seizures, refractive errors and strabismus, hearing loss, sleep disturbance, etc., are common in WHSUS patients.

[8] by A Merriweather (2022) - Hypotonia, behavioral abnormalities, ophthalmic abnormalities, hearing loss, sleep apnea, microcephaly, etc., may be present in WHSUS patients.

[9] by MF Villalba (2022) - This rare genetic condition is usually associated with intellectual and developmental delay, facial dysmorphism, strabismus, refractive error, and retinal abnormalities.