Smith–Kingsmore syndrome
Medical condition
From Wikipedia, the free encyclopedia
Smith–Kingsmore syndrome is a rare genetic disorder that is caused by a gain-of-function mutation in a mTOR gene. 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.[2]
| Smith–Kingsmore syndrome | |
|---|---|
| Other names | SKS, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MINDS syndrome[1] |
| |
| Smith–Kingsmore syndrome is inherited in autosomal dominant fashion | |
| Symptoms | Intellectual disability, macrocephaly |
| Causes | Gain-of-function mutation in MTOR |
| Diagnostic method | Genetic testing |
Presentation
The signs of this disease are:[3]
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
Diagnosis
SKS is a rare condition so many physicians aren'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.[7]
SKS can be confirmed with the detection of a germline or mosaic mutation in the MTOR gene.[7]
Frequency
Frequency of this disease is unknown, but all ethnic groups are equally affected.[8]
Treatment
There is no cure for SKS, but management of some symptoms can be achieved.[9]
History
SKS was first described by Dr Smith, L.D et al. in 2013.[10]