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Last update 08 May 2025

Facial Hemihypertrophy

Last update 08 May 2025

Basic Info

Synonyms

Enlargement of half of face, FACIAL HEMIHYPERTROPHY, Facial Hemihypertrophy

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Introduction

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.

Clinical Trials associated with Facial Hemihypertrophy

NCT06636708

/ RecruitingPhase 4IIT

Evaluation of Nanodropper-mediated Microdrops vs. Standard Drops of 0.5% Proparacaine HCl

The goal of this clinical trial is to compare the onset and duration of numbness of the surface of the eye following the administration of numbing drops, called proparacaine, using either a standard eye drop bottle or a "Nanodropper" adaptor. The Nanodropper is designed to administer smaller-sized drops, or microdrops.
Participants will:
1. Complete a baseline eye exam.
2. Receive a numbing drop using a standard dropper in one eye and the Nanodropper in the other eye.
3. Have their eyes tested for numbness at specific time points (30 seconds, 1, 2, 5, and 10 minutes after getting the drops).
4. Tell the researchers if they feel pain during the eye sensation tests.
5. Complete a survey about their experience with the eyedrops and testing procedure.
This study could help us find a way to use less medication while still effectively administering eye medications, potentially saving money and reducing medical waste.

Start Date12 Dec 2024

Sponsor / Collaborator-

NCT00503893

/ Unknown statusNot ApplicableIIT

Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies

The goal of this clinical research study is to collect information and blood samples to try to learn why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or regions of DNA (the genetic material of cells) affect a person's risk of getting cancer.
This is an investigational study.
Up to 1500 patients and family members will take part in this study. All will be enrolled at MD Anderson.

Start Date01 Dec 1980

Sponsor / Collaborator

The University of Texas MD Anderson Cancer Center

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100 Clinical Results associated with Facial Hemihypertrophy

100 Translational Medicine associated with Facial Hemihypertrophy

0 Patents (Medical) associated with Facial Hemihypertrophy

454

Literatures (Medical) associated with Facial Hemihypertrophy

01 Mar 2025·Ear, Nose & Throat Journal

Congenital Hemifacial Hypertrophy: A Case With Unilateral Tonsillar Hypertrophy and Parapharyngeal Space Lipoma

Article

Author: Li, Xiao Yan ; Zhu, Peng

Congenital hemifacial hypertrophy, an uncommon developmental disease, is characterized by unilateral overgrowth in at least one body part, which can result in significant asymmetry. Meckel reported the first patient of congenital hemifacial hypertrophy in 1822. Since then, numerous cases have been investigated. This study reports a 2-year-old child diagnosed with hemifacial hypertrophy combined with unilateral tonsillar hypertrophy and parapharyngeal space lipoma. We concentrated on the treatment options as well as the related head and neck symptoms.

01 Jan 2025·Journal of Craniofacial Surgery

Advances in the Treatment of Congenital Infiltrating Lipomatosis of the Face: The Role of PIK3CA Mutations and Microvascular Reconstruction

Article

Author: Burkes, Jason ; Liu, Robert H. ; Moreno, Stephen D. ; Robbins, Quinn

Congenital infiltrating lipomatosis of the face is a rare aggressive-benign disorder characterized by progressive hemifacial overgrowth and complex, often asymmetrical, facial differences. Recently linked with the PIK3CA-Related Overgrowth Spectrum, it arises from mosaic mutations in the PIK3CA gene. Treatment, largely supportive and tailored to individual clinical presentations, requires a multidisciplinary approach. This article reviews the longitudinal care of a young adult patient from 8 years of age, detailing his journey through combined orthognathic and microvascular reconstructive surgery and the outcomes thereof. In addition, it explores the treatment’s implications in the context of the PIK3CA mutation, offering insights into potential prognostic and therapeutic considerations.

01 Aug 2024·International Journal of Oral and Maxillofacial Surgery

Clinical, imaging, and pathological characteristics of congenital infiltrating lipomatosis of the face

Article

Author: Du, Z ; You, Y H ; Yang, G X ; Tian, Z W ; Xu, G S ; Wang, Y A

Congenital infiltrating lipomatosis of the face (CILF) is a rare congenital disease of the head and neck region. In this study, the cases of 20 patients diagnosed with CILF were reviewed retrospectively to analyse the characteristics of the disease. The symptoms, signs, and clinical progression were investigated. Radiological changes were analysed according to the distribution of the trigeminal nerve. The pathological features of the fatty facial lesions, jaw hyperplasia, and lingual lesions were further identified. All 20 patients demonstrated hemifacial hypertrophy at birth. None had a family history of the disease. Significant radiological features of CILF (prevalence ≥90%) included thickened buccal subcutaneous fat, palatal submucosal fat, and temporal subcutaneous fat, maxillary tuberosity heteroplasia, and fatty infiltration of the masseteric intermuscular space. With regard to the trigeminal nerve, the frontal branch region (CNV1) was rarely affected, while the maxillary (CNV2) and mandibular (CNV3) branch regions showed considerable changes. Pathologically, CILF was observed to be characterized by the infiltration of mature adipose tissue into the adjacent buccal soft tissue, osteal remodelling surrounded by sheets of mature lipocytes and supporting fibrovascular stroma, and lingual hamartoma. In summary, CILF exhibits distinct characteristics that are related to the regions controlled by the maxillary and mandibular branches of the trigeminal nerve, suggesting that CILF may be associated with early neural development.

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