Pitt–Hopkins syndrome: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
[[File:Pitt–Hopkins_syndrome.png|Pitt–Hopkins syndrome| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Pitt–Hopkins syndrome | |||
| image = [[File:Pitt–Hopkins_syndrome.png|alt=Image of a child with Pitt–Hopkins syndrome]] | |||
| caption = Child with Pitt–Hopkins syndrome | |||
| synonyms = PTHS | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[breathing abnormalities]], [[seizures]], [[distinctive facial features]] | |||
| onset = Infancy | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[TCF4]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]] | |||
| differential = [[Angelman syndrome]], [[Rett syndrome]], [[Mowat–Wilson syndrome]] | |||
| treatment = [[Symptomatic treatment]], [[supportive care]] | |||
| medication = [[Anticonvulsants]] for seizures | |||
| prognosis = Variable, generally stable | |||
| frequency = Rare, estimated 1 in 34,000 to 1 in 41,000 | |||
| deaths = | |||
}} | |||
'''Pitt–Hopkins syndrome''' ('''PTHS''') is a rare genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and breathing abnormalities. It is caused by mutations in the [[TCF4]] gene, which plays a crucial role in the development and function of the nervous system. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with Pitt–Hopkins syndrome typically exhibit a range of symptoms, including: | Individuals with Pitt–Hopkins syndrome typically exhibit a range of symptoms, including: | ||
| Line 11: | Line 31: | ||
* Motor skills impairment | * Motor skills impairment | ||
* Behavioral issues, including anxiety and stereotypic movements | * Behavioral issues, including anxiety and stereotypic movements | ||
== Genetics == | == Genetics == | ||
Pitt–Hopkins syndrome is caused by mutations in the [[TCF4]] gene located on chromosome 18. The [[TCF4]] gene is responsible for encoding a transcription factor that is essential for the development of the nervous system. Mutations in this gene disrupt normal brain development and function, leading to the symptoms observed in PTHS. | Pitt–Hopkins syndrome is caused by mutations in the [[TCF4]] gene located on chromosome 18. The [[TCF4]] gene is responsible for encoding a transcription factor that is essential for the development of the nervous system. Mutations in this gene disrupt normal brain development and function, leading to the symptoms observed in PTHS. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Pitt–Hopkins syndrome is based on clinical evaluation and genetic testing. The presence of characteristic facial features, developmental delay, and breathing abnormalities may prompt genetic testing to identify mutations in the [[TCF4]] gene. | Diagnosis of Pitt–Hopkins syndrome is based on clinical evaluation and genetic testing. The presence of characteristic facial features, developmental delay, and breathing abnormalities may prompt genetic testing to identify mutations in the [[TCF4]] gene. | ||
== Management == | == Management == | ||
There is currently no cure for Pitt–Hopkins syndrome. Management focuses on addressing the symptoms and improving the quality of life for affected individuals. This may include: | There is currently no cure for Pitt–Hopkins syndrome. Management focuses on addressing the symptoms and improving the quality of life for affected individuals. This may include: | ||
| Line 24: | Line 41: | ||
* Medications to manage seizures and behavioral issues | * Medications to manage seizures and behavioral issues | ||
* Regular monitoring and treatment of gastrointestinal issues | * Regular monitoring and treatment of gastrointestinal issues | ||
== Epidemiology == | == Epidemiology == | ||
Pitt–Hopkins syndrome is a rare condition, with an estimated prevalence of less than 1 in 34,000 individuals. It affects both males and females equally. | Pitt–Hopkins syndrome is a rare condition, with an estimated prevalence of less than 1 in 34,000 individuals. It affects both males and females equally. | ||
== History == | == History == | ||
Pitt–Hopkins syndrome was first described in 1978 by Dr. David Pitt and Dr. Ian Hopkins, who identified two patients with similar clinical features. Since then, advances in genetic testing have allowed for the identification of the underlying genetic cause of the syndrome. | Pitt–Hopkins syndrome was first described in 1978 by Dr. David Pitt and Dr. Ian Hopkins, who identified two patients with similar clinical features. Since then, advances in genetic testing have allowed for the identification of the underlying genetic cause of the syndrome. | ||
== See Also == | == See Also == | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
| Line 39: | Line 53: | ||
* [[Occupational therapy]] | * [[Occupational therapy]] | ||
* [[Speech therapy]] | * [[Speech therapy]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Pitt–Hopkins syndrome}} | {{Commons category|Pitt–Hopkins syndrome}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
| Line 51: | Line 62: | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Developmental disabilities]] | [[Category:Developmental disabilities]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:56, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Pitt–Hopkins syndrome | |
|---|---|
| |
| Synonyms | PTHS |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, breathing abnormalities, seizures, distinctive facial features |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the TCF4 gene |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | Angelman syndrome, Rett syndrome, Mowat–Wilson syndrome |
| Prevention | N/A |
| Treatment | Symptomatic treatment, supportive care |
| Medication | Anticonvulsants for seizures |
| Prognosis | Variable, generally stable |
| Frequency | Rare, estimated 1 in 34,000 to 1 in 41,000 |
| Deaths | |
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and breathing abnormalities. It is caused by mutations in the TCF4 gene, which plays a crucial role in the development and function of the nervous system.
Signs and Symptoms[edit]
Individuals with Pitt–Hopkins syndrome typically exhibit a range of symptoms, including:
- Severe intellectual disability
- Developmental delay
- Distinctive facial features such as a wide mouth, prominent lips, and deep-set eyes
- Breathing abnormalities, including episodes of hyperventilation and apnea
- Seizures
- Gastrointestinal issues, such as constipation
- Motor skills impairment
- Behavioral issues, including anxiety and stereotypic movements
Genetics[edit]
Pitt–Hopkins syndrome is caused by mutations in the TCF4 gene located on chromosome 18. The TCF4 gene is responsible for encoding a transcription factor that is essential for the development of the nervous system. Mutations in this gene disrupt normal brain development and function, leading to the symptoms observed in PTHS.
Diagnosis[edit]
Diagnosis of Pitt–Hopkins syndrome is based on clinical evaluation and genetic testing. The presence of characteristic facial features, developmental delay, and breathing abnormalities may prompt genetic testing to identify mutations in the TCF4 gene.
Management[edit]
There is currently no cure for Pitt–Hopkins syndrome. Management focuses on addressing the symptoms and improving the quality of life for affected individuals. This may include:
- Physical therapy and occupational therapy to improve motor skills
- Speech therapy to address communication difficulties
- Medications to manage seizures and behavioral issues
- Regular monitoring and treatment of gastrointestinal issues
Epidemiology[edit]
Pitt–Hopkins syndrome is a rare condition, with an estimated prevalence of less than 1 in 34,000 individuals. It affects both males and females equally.
History[edit]
Pitt–Hopkins syndrome was first described in 1978 by Dr. David Pitt and Dr. Ian Hopkins, who identified two patients with similar clinical features. Since then, advances in genetic testing have allowed for the identification of the underlying genetic cause of the syndrome.
See Also[edit]
- Intellectual disability
- Developmental delay
- Genetic disorders
- Seizures
- Physical therapy
- Occupational therapy
- Speech therapy
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
