Smith-Kingsmore syndrome
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.
Presentation
The signs of this disease are:Very frequent:
- Intellectual Disability
- Macrocephaly
- Abnormal facial shape
- Abnormality of speech
- Curly Hair
- Seizure
- Frontal bossing
- Ventriculomegaly
- Autistic Behaviour
- Cafe-au-lait spot
- Gait Disturbance
- Hypertelorism
- Hypotonia
- Open mouth
- Long philtrum
- Polymicrogyria
- Prominient forehead
- 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 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.SKS can be confirmed with the detection of a germline or mosaic mutation in the MTOR gene.