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Legius syndrome

MIM.611431

Tuesday 24 August 2010

Synopsis

- Macrocephaly (less common)
- Noonan-like facies in a minority of patients
- Triangular face with age
- Low-set ears
- posteriorly rotated ears
- Ptosis
- Hypertelorism
- Down-slanting palpebral fissures
- Epicanthal folds
- Deeply grooved philtrum
- High peaks of upper lip vermilion border
- High arched palate
- Micrognathia
- Cafe-au-lait spots
- Axillary freckling
- Lipomas
- Learning difficulties
- No neurofibromas
- Behavioral/psychiatric manifestations
- Attention deficit-hyperactivity
- Phenotypic overlap with neurofibromatosis 1 (NF1, MIM.162200)
- Some patients do not have dysmorphic features

Etiology

- Legius syndrome is caused by mutation in the SPRED1 gene (MIM.609291) on chromosome 15q13.2.