This is an old revision of this page, as edited by NotCarlJohnson1992 (talk | contribs) at 16:30, 6 January 2025 (Made article about Smith-Kingsmore Syndrome). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.
Revision as of 16:30, 6 January 2025 by NotCarlJohnson1992 (talk | contribs) (Made article about Smith-Kingsmore Syndrome)(diff) ← Previous revision | Latest revision (diff) | Newer revision → (diff)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 names | SKS |
 | |
| Smith-Kingsmore Syndrome is inherited in Autosomal Dominant fashion. | |
| Causes | Gain-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
- "Entry - #616638 - SMITH-KINGSMORE SYNDROME; SKS - OMIM". omim.org. Retrieved 2025-01-06.
{{cite web}}: line feed character in|title=at position 6 (help) - "Smith-Kingsmore syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-01-06.
- "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-01-06.