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Smith-Kingsmore syndrome: Difference between revisions

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Revision as of 16:30, 6 January 2025 editNotCarlJohnson1992 (talk | contribs)85 edits Made article about Smith-Kingsmore SyndromeTag: Visual edit  Revision as of 17:12, 6 January 2025 edit undoNotCarlJohnson1992 (talk | contribs)85 edits Added a new sectionTag: Visual editNext edit →
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'''Smith-Kingsmore syndrome''' is a rare genetic disorder that is caused by gain-of-function mutation in a gene ].<ref>{{Cite web |title=Entry '''Smith-Kingsmore syndrome''' is a rare genetic disorder that is caused by gain-of-function mutation in a gene ]. The facial features of this syndrome are ] with a pointed chin, ], ], eyes with downslanting ], a flat ], a long ].<ref>{{Cite web |title=Smith-Kingsmore syndrome: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome/#:~:text=Collapse%20Section,is%20delayed%20or%20never%20develops. |access-date=2025-01-06 |website=medlineplus.gov |language=en}}</ref>
- #616638 - SMITH-KINGSMORE SYNDROME; SKS

- OMIM |url=https://omim.org/entry/616638 |access-date=2025-01-06 |website=omim.org |language=en-us}}</ref> The facial features of this syndrome are ] with a pointed chin, ], ], eyes with downslanting ], a flat ], a long ].<ref>{{Cite web |title=Smith-Kingsmore syndrome: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome/#:~:text=Collapse%20Section,is%20delayed%20or%20never%20develops. |access-date=2025-01-06 |website=medlineplus.gov |language=en}}</ref>


{{Infobox medical condition {{Infobox medical condition
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== Cause == == Cause ==
The cause of SKS is gain-of-function ] in a gene ].<ref name=":0" />

This disease is inherited in ] fashion, but most of the times it’s '']'' mutation.<ref>{{Cite journal |last=Allen |first=Andrew S. |last2=Berkovic |first2=Samuel F. |last3=Cossette |first3=Patrick |last4=Delanty |first4=Norman |last5=Dlugos |first5=Dennis |last6=Eichler |first6=Evan E. |last7=Epstein |first7=Michael P. |last8=Glauser |first8=Tracy |last9=Goldstein |first9=David B. |last10=Han |first10=Yujun |last11=Heinzen |first11=Erin L. |last12=Hitomi |first12=Yuki |last13=Howell |first13=Katherine B. |last14=Johnson |first14=Michael R. |last15=Kuzniecky |first15=Ruben |date=2013-09 |title=De novo mutations in epileptic encephalopathies |url=https://www.nature.com/articles/nature12439 |journal=Nature |language=en |volume=501 |issue=7466 |pages=217–221 |doi=10.1038/nature12439 |issn=1476-4687}}</ref><ref>{{Cite journal |last=Mroske |first=Cameron |last2=Rasmussen |first2=Kristen |last3=Shinde |first3=Deepali N. |last4=Huether |first4=Robert |last5=Powis |first5=Zoe |last6=Lu |first6=Hsiao-Mei |last7=Baxter |first7=Ruth M. |last8=McPherson |first8=Elizabeth |last9=Tang |first9=Sha |date=2015-11-05 |title=Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities |url=https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-015-0240-8 |journal=BMC Medical Genetics |volume=16 |issue=1 |pages=102 |doi=10.1186/s12881-015-0240-8 |issn=1471-2350 |pmc=PMC4635597 |pmid=26542245}}</ref>

== Diagnosis ==
SKS is a rare condition so many physicians won’t familiar with. A diagnosis of SKS is suspected based upon the identification of symptoms, a patient and family history and a thorough clinical evaluation.<ref name=":1">{{Cite web |title=Smith-Kingsmore Syndrome - Symptoms, Causes, Treatment {{!}} NORD |url=https://rarediseases.org/rare-diseases/smith-kingsmore-syndrome/#diagnosis |access-date=2025-01-06 |website=rarediseases.org |language=en-US}}</ref>

SKS can be confirmed with the detection of a germline or mosaic mutation in the ] gene.<ref name=":1" />

Revision as of 17:12, 6 January 2025

Smith-Kingsmore syndrome is a rare genetic disorder that is caused by gain-of-function mutation in a gene MTOR. The facial features of this syndrome are triangular face with a pointed chin, frontal bossing, hypertelorism, eyes with downslanting palpebral fissures, a flat nasal bridge, a long philtrum.

Medical condition
Smith-Kingsmore Syndrome
Other namesSKS
Smith-Kingsmore Syndrome is inherited in Autosomal Dominant fashion.
CausesGain-of-function mutation in MTOR

Presentation

The signs of this disease are:

Very frequent:

  • Intellectual Disability
  • Macrocephaly

Frequent:

  • Abnormal facial shape
  • Abnormality of speech
  • Curly Hair
  • Seizure
  • Frontal bossing
  • Ventriculomegaly

Occasional:

  • Autistic Behaviour
  • Cafe-au-lait spot
  • Gait Disturbance
  • Hypertelorism
  • Hypotonia
  • Open mouth
  • Long philtrum
  • Polymicrogyria
  • Prominient forehead

Very rare:

  • Downslanted palpebral fissures
  • Depressed nasal bridge
  • Decreased circulating IgA level

Cause

The cause of SKS is gain-of-function mutation in a gene MTOR.

This disease is inherited in Autosomal Dominant fashion, but most of the times it’s de-novo mutation.

Diagnosis

SKS is a rare condition so many physicians won’t familiar with. A diagnosis of SKS is suspected based upon the identification of symptoms, a patient and family history and a thorough clinical evaluation.

SKS can be confirmed with the detection of a germline or mosaic mutation in the MTOR gene.

  1. "Smith-Kingsmore syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-01-06.
  2. "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-01-06.
  3. Cite error: The named reference :0 was invoked but never defined (see the help page).
  4. Allen, Andrew S.; Berkovic, Samuel F.; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Han, Yujun; Heinzen, Erin L.; Hitomi, Yuki; Howell, Katherine B.; Johnson, Michael R.; Kuzniecky, Ruben (2013-09). "De novo mutations in epileptic encephalopathies". Nature. 501 (7466): 217–221. doi:10.1038/nature12439. ISSN 1476-4687. {{cite journal}}: Check date values in: |date= (help)
  5. Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali N.; Huether, Robert; Powis, Zoe; Lu, Hsiao-Mei; Baxter, Ruth M.; McPherson, Elizabeth; Tang, Sha (2015-11-05). "Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities". BMC Medical Genetics. 16 (1): 102. doi:10.1186/s12881-015-0240-8. ISSN 1471-2350. PMC 4635597. PMID 26542245.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  6. ^ "Smith-Kingsmore Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-01-06.
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