Rett syndrome: a study of the face
Judith E Allanson1, Raoul C M Hennekam, Ute Moog
1Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. allanson@cheo.on.ca
American Journal of Medical Genetics. Part A
|June 1, 2011
Summary
Rett syndrome, a neurodevelopmental disorder, does not share facial features with Angelman syndrome, despite similar clinical presentations. This study found few distinct facial characteristics in females with Rett syndrome.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Pediatrics
Background:
- Rett syndrome is a rare neurodevelopmental disorder primarily affecting females, characterized by an evolving phenotype after a normal early period.
- A perceived facial resemblance between Rett syndrome and Angelman syndrome lacks objective support and universal consensus.
- Understanding distinct facial phenotypes is crucial for accurate diagnosis and differential diagnosis.
Purpose of the Study:
- To define the key facial characteristics of females with Rett syndrome.
- To investigate age-related changes in facial morphology in Rett syndrome.
- To compare facial features of Rett syndrome with those of Angelman syndrome.
Main Methods:
- Observational and anthropometric study design.
- Evaluation of 37 Caucasian females with Rett syndrome (ages 2-20 years).
- Genetic analysis (MECP2 mutation) and clinical diagnosis confirmation.
Main Results:
- Most facial measurements in Rett syndrome were within normal ranges.
- Head circumference tended to decrease relative to normal ranges with age.
- Facial width showed a slight increase in girls under 3 years old; no marked prognathism, wide mouth, or spaced teeth were observed.
- Facial features of Rett syndrome do not align with those typically seen in Angelman syndrome.
Conclusions:
- Rett syndrome exhibits minimal distinct facial features, with head circumference being a notable exception that decreases with age.
- The facial phenotype of Rett syndrome is dissimilar to that of Angelman syndrome.
- Despite overlapping clinical and behavioral phenotypes, Rett and Angelman syndromes are distinguishable by their facial characteristics.
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