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Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders
Konstantinia Almpani1, Katelin R Devine1, Denise K Liberton1
1Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MB, USA.
Summary
Congenital facial weakness disorders impact craniofacial development and oral health. This study reveals distinct facial shapes and anomalies in conditions like Moebius syndrome, highlighting the need for comprehensive phenotyping.
Area of Science:
- Genetics and Developmental Biology
- Craniofacial and Dental Medicine
- Rare Diseases Research
Background:
- Congenital facial weakness (CFW) disorders are rare conditions present at birth, characterized by reduced facial movement and a mask-like appearance.
- These disorders represent a heterogeneous group, including Moebius syndrome (MBS), Hereditary Congenital Facial Palsy (HCFP), and others, each with unique clinical presentations.
Purpose of the Study:
- To investigate the craniofacial and intraoral phenotypes in individuals with various congenital facial weakness disorders using a multimodality approach.
- To identify distinct craniofacial shapes and clinical findings associated with specific CFW subtypes.
Main Methods:
- A prospective cohort study involving 60 individuals diagnosed with CFW.
- Utilized deep clinical craniofacial and dental phenotyping, 3D facial surface imaging, cone-beam computed tomography (CBCT), cephalometric, and geometric morphometric analyses.
Main Results:
- CFEOM3A-TUBB3, MBS, and Carey-Fineman-Ziter syndrome (CFZS) exhibited the highest prevalence of craniofacial anomalies, while HCFP showed the least.
- Specific findings included short lower face and Class II malocclusion in CFEOM3A-TUBB3; lagophthalmos and tongue issues in MBS; and oblong face in CFZS.
- Morphometric analyses revealed smaller craniofacial size and distinct shapes for each CFW subtype, with oral health issues correlating to restricted oral orifices.
Conclusions:
- Congenital facial weakness disorders significantly affect craniofacial development beyond facial movement deficits.
- Multimodality phenotyping effectively differentiates CFW subtypes, revealing distinct craniofacial morphology and key clinical characteristics for each group.
Keywords:
3D facial surfaceCAPSCBCTCarey-Fineman-Ziter syndromeMoebius syndromeTUBB3cephalometric analysisclinical phenotypingcone-beam computed tomographycongenital facial weaknesscraniofacial anomalies prevalence scoregeometric morphometric analysishereditary congenital facial palsymultimodality craniofacial phenotypingoral-dental anomaliesβ-tubulin isotype 3 syndrome
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