Sakati–Nyhan–Tisdale syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Sakati–Nyhan–Tisdale syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Sakati–Nyhan–Tisdale syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = [[Acrocephalopolysyndactyly]] type III | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Craniosynostosis]], [[syndactyly]], [[polydactyly]], [[mental retardation]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Apert syndrome]], [[Carpenter syndrome]] | |||
| treatment = [[Surgical intervention]], [[supportive care]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
'''Sakati–Nyhan–Tisdale syndrome''' is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by Nadia Sakati, William Nyhan, and William Tisdale in 1971. | '''Sakati–Nyhan–Tisdale syndrome''' is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by Nadia Sakati, William Nyhan, and William Tisdale in 1971. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Sakati–Nyhan–Tisdale syndrome can vary greatly from person to person. However, common symptoms include [[microcephaly]] (small head size), [[micrognathia]] (small jaw), [[cleft palate]], [[low-set ears]], [[short stature]], and [[intellectual disability]]. Some individuals may also have [[heart defects]], [[kidney abnormalities]], and [[skeletal abnormalities]]. | The symptoms of Sakati–Nyhan–Tisdale syndrome can vary greatly from person to person. However, common symptoms include [[microcephaly]] (small head size), [[micrognathia]] (small jaw), [[cleft palate]], [[low-set ears]], [[short stature]], and [[intellectual disability]]. Some individuals may also have [[heart defects]], [[kidney abnormalities]], and [[skeletal abnormalities]]. | ||
== Causes == | == Causes == | ||
Sakati–Nyhan–Tisdale syndrome is caused by mutations in the [[genes]] that are involved in the development of various parts of the body. The exact genes involved are currently unknown. The syndrome is inherited in an [[autosomal recessive]] manner, which means both copies of the gene in each cell have mutations. | Sakati–Nyhan–Tisdale syndrome is caused by mutations in the [[genes]] that are involved in the development of various parts of the body. The exact genes involved are currently unknown. The syndrome is inherited in an [[autosomal recessive]] manner, which means both copies of the gene in each cell have mutations. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Sakati–Nyhan–Tisdale syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation. | The diagnosis of Sakati–Nyhan–Tisdale syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Sakati–Nyhan–Tisdale syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Surgery may be required for certain physical abnormalities. | There is currently no cure for Sakati–Nyhan–Tisdale syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Surgery may be required for certain physical abnormalities. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Sakati–Nyhan–Tisdale syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications. | The prognosis for individuals with Sakati–Nyhan–Tisdale syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications. | ||
== See Also == | == See Also == | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[List of rare diseases]] | * [[List of rare diseases]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External Links == | == External Links == | ||
* [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3430 Orphanet: Sakati–Nyhan–Tisdale syndrome] | * [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3430 Orphanet: Sakati–Nyhan–Tisdale syndrome] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:59, 6 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
| Sakati–Nyhan–Tisdale syndrome | |
|---|---|
| |
| Synonyms | Acrocephalopolysyndactyly type III |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Craniosynostosis, syndactyly, polydactyly, mental retardation |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Apert syndrome, Carpenter syndrome |
| Prevention | N/A |
| Treatment | Surgical intervention, supportive care |
| Medication | N/A |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Sakati–Nyhan–Tisdale syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by Nadia Sakati, William Nyhan, and William Tisdale in 1971.
Symptoms and Signs[edit]
The symptoms of Sakati–Nyhan–Tisdale syndrome can vary greatly from person to person. However, common symptoms include microcephaly (small head size), micrognathia (small jaw), cleft palate, low-set ears, short stature, and intellectual disability. Some individuals may also have heart defects, kidney abnormalities, and skeletal abnormalities.
Causes[edit]
Sakati–Nyhan–Tisdale syndrome is caused by mutations in the genes that are involved in the development of various parts of the body. The exact genes involved are currently unknown. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis[edit]
The diagnosis of Sakati–Nyhan–Tisdale syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.
Treatment[edit]
There is currently no cure for Sakati–Nyhan–Tisdale syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Surgery may be required for certain physical abnormalities.
Prognosis[edit]
The prognosis for individuals with Sakati–Nyhan–Tisdale syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications.
See Also[edit]
References[edit]
<references />
