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Hipertrofia hemifacial
ORPHA:141145CID-10 · Q67.4CID-11 · LA52OMIM 133900DOENÇA RARA

A hiperplasia hemifacial é uma anomalia morfológica rara da região maxilofacial caracterizada pelo crescimento excessivo unilateral de todas as estruturas faciais (ossos, tecidos moles, dentes), chamada hipertrofia hemifacial verdadeira, ou crescimento excessivo de uma ou mais, mas não de todas as estruturas faciais, chamada hipertrofia hemifacial parcial. Pode ser isolada ou relacionada a algumas síndromes (por exemplo, síndrome de Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, síndrome de McCune-Albright, Neurofibromatose tipo 1). Pode estar associada a obstrução das vias aéreas, perda auditiva neurossensorial ou dificuldades de deglutição.

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Introdução

O que você precisa saber de cara

📋

A hiperplasia hemifacial é uma anomalia morfológica rara da região maxilofacial caracterizada pelo crescimento excessivo unilateral de todas as estruturas faciais (ossos, tecidos moles, dentes), chamada hipertrofia hemifacial verdadeira, ou crescimento excessivo de uma ou mais, mas não de todas as estruturas faciais, chamada hipertrofia hemifacial parcial. Pode ser isolada ou relacionada a algumas síndromes (por exemplo, síndrome de Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, síndrome de McCune-Albright, Neurofibromatose tipo 1). Pode estar associada a obstrução das vias aéreas, perda auditiva neurossensorial ou dificuldades de deglutição.

Publicações científicas
42 artigos
Último publicado: 2025

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.16
United States
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q67.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
4 sintomas
👂
Ouvidos
2 sintomas
🫁
Pulmão
2 sintomas
🦷
Dentes
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Hipertrofia hemifacial
90%prev.
Assimetria facial
Muito frequente (99-80%)
55%prev.
Septo nasal desviado
Frequente (79-30%)
55%prev.
Hemimacroglossia
Frequente (79-30%)
55%prev.
Borda do vermelhão espessa
Frequente (79-30%)
55%prev.
Macrodontia
Frequente (79-30%)
17sintomas
Muito frequente (2)
Frequente (5)
Ocasional (8)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.

Hipertrofia hemifacialHemifacial hypertrophy
Muito frequente100%
Assimetria facialFacial asymmetry
Muito frequente (99-80%)90%
Septo nasal desviadoDeviated nasal septum
Frequente (79-30%)55%
Hemimacroglossia
Frequente (79-30%)55%
Borda do vermelhão espessaThick vermilion border
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico42PubMed
Últimos 10 anos19publicações
Pico20154 papers
Linha do tempo
2025Hoje · 2026📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hipertrofia hemifacial

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
19 papers (10 anos)
#1

Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.

Case reports in dentistry2025

Segmental odontomaxillary dysplasia (SOD) is a rare nonheritable unilateral developmental disorder characterized by dental, bone, and soft tissue abnormalities. A 13-year-old female patient presented with mild facial asymmetry. Clinical examination revealed right maxillary enlargement and gingival overgrowth. Radiologic examination revealed retention of primary teeth showing pulp chamber obliteration and irregular root resorption, agenesis of the second premolar, impaction of the first premolar, bone enlargement, and increased trabecular bone density with vertically oriented trabeculae. The combined imaging findings facilitated clear differentiation from common imaging mimickers, such as fibrous dysplasia and hemifacial hyperplasia. Bone histopathological examination revealed irregular bony trabeculae lacking an osteoblastic layer, accompanied by numerous basophilic reversal lines. This case underscores the importance of a multidisciplinary approach, combining clinical, radiologic, and histopathological evaluation in distinguishing SOD from other conditions with overlapping radiologic features.

#2

Congenital hemifacial hyperplasia-A diagnostic dilemma.

National journal of maxillofacial surgery2025

CHH is a rare developmental pathology and often presents a diagnostic dilemma to a clinician. It is characterized by marked unilateral overgrowth of hard and soft tissues of the face that is present since birth and advances with age, mostly till puberty. Though aetiology remains unknown, several factors could be considered including hormonal imbalances, diseases involving the neural system, vascular conditions, lymphatic abnormalities, mechanical influences and congenital syphilis. Hence, desired investigations should be done to rule out syndromes causing facial asymmetry. Since, management is considered when aesthetics are a prime concern, it should be planned only after growth cessation. We, hereby, present a case of 10-year-old male patient reported with chief complaint of asymmetry on left side of face from birth to supplement existing clinical knowledge.

#3

Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.

BMC oral health2024 Dec 20

This case report details a true hemifacial hyperplasia with temporomandibular joint ankylosis case managed through a multidisciplinary approach involving department of oral and maxillofacial surgery, orthodontics, and prosthodontics. A 42-year-old female patient presented with a chief complaint of limited mouth opening. Clinically, the patient exhibited severe facial asymmetry due to hyperplasia of the left facial region. Cone-beam computed tomography findings revealed overgrowth of the left mandible, zygomatic bone, and maxillary bone including alveolar bone, along with bony ankylosis of the temporomandibular joint. To alleviate the restricted mouth opening, gap arthroplasty was initially performed. Additionally, alveoloplasty was carried out to address occlusal interference caused by the overgrown alveolar bone. Orthodontic treatment was conducted to reduce mandibular molar width and achieve proper overjet. For reconstruction of the left side occlusion, dental implants were placed using an implant surgical guide, followed by prosthetic rehabilitation. Total treatment duration was 48 months, resulting in stabilization of the patient's occlusion. By setting feasible goals through consultations among specialists from each department, based on three-dimensional simulations, successful and efficient occlusal rehabilitation can be achieved in a true hemifacial hyperplasia patient.

#4

Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.

Journal of clinical medicine2023 Dec 16

Hemifacial hyperplasia (HFH) is a rare congenital disorder characterized by marked unilateral overgrowth of the facial tissues. A subtype of HFH is congenital infiltrating lipomatosis of the face (CIL-F). This disease is characterized by unilateral diffuse infiltration of mature adipose cells in the facial soft tissue and is associated with skeletal hypertrophy. This work aims to report a case of a CIL-F patient with right facial asymmetry and progressive growth at adolescent age, causing mandibular asymmetry due to signs of concomitant unilateral condylar hyperplasia. At the age of seventeen, a condylectomy was performed to stop the progression of asymmetric mandibular growth. Five years later, the patient developed CIL-F-associated temporomandibular joint ankylosis, manifesting as progressive restricted mouth opening along with temporal facial pain. In this CIL-F patient, a TMJ reconstruction with an alloplastic total joint prosthesis was successfully performed with optimal maximal mouth opening, complete alleviation of temporal facial pain, and stable dental occlusion one year postoperatively. A TMJ reconstruction with a complete alloplastic total joint prosthesis proved to be a predictable, stable, and safe treatment option in a patient with CIL-F-associated TMJ ankylosis who was previously treated with condylectomy due to progressive mandibular asymmetry.

#5

Hemifacial hypertrophy - Report of 2 cases.

Indian journal of dental research : official publication of Indian Society for Dental Research2022

Hemifacial hyperplasia (HH) is a rare congenital condition involving enlargement of one or more tissues of the face. The treatment is surgically challenging and requires expertise. This manuscript aims to report two similar appearing HH but warranting different surgical treatment. A 19-year-old female and a 14-year-old boy presented with right facial asymmetry since birth and sought correction of the same. Surgical treatment was planned. Based on clinical history, diagnosis and imaging, HH was diagnosed. The first case was entirely a soft tissue abnormality that was treated with debulking while the second case had involvement of facial bones, necessitating surgical recontouring. The facial asymmetry was addressed. Healing was uneventful. Though the aesthetical concern and appearance of the two cases of HH were same, the treatment vastly differed. This was based on the source of asymmetry. Proper diagnosis and informed decision are a key for successful surgical outcome.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC31 artigos no totalmostrando 18

2025

Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.

Case reports in dentistry
2025

Congenital hemifacial hyperplasia-A diagnostic dilemma.

National journal of maxillofacial surgery
2024

Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.

BMC oral health
2023

Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.

Journal of clinical medicine
2022

Hemifacial hypertrophy - Report of 2 cases.

Indian journal of dental research : official publication of Indian Society for Dental Research
2022

Facial infiltrating lipomatosis, a rare cause of facial asymmetry to be known: Case report and literature review.

Annals of medicine and surgery (2012)
2020

Congenital infiltrating lipomatosis of the face with temporomandibular joint ankylosis.

National journal of maxillofacial surgery
2021

Hemifacial hyperplasia: a case series and review of the literature.

International journal of oral and maxillofacial surgery
2020

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

International journal of oral and maxillofacial surgery
2019

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.

International journal of pediatric otorhinolaryngology
2018

Congenital infiltrating lipomatosis of the face with hyperplastic mandibular, maxillary and pterygoid bones: case report and a review of literature.

International medical case reports journal
2018

Congenital hemifacial hyperplasia.

Medicina clinica
2016

Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review.

Case reports in dentistry
2015

Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.

Handbook of clinical neurology
2015

Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

BoneKEy reports
2015

Congenital infiltrating lipomatosis of face: case report and review of literature.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
2015

Computer-assisted planning and navigation for the treatment of true hemifacial hyperplasia.

The Journal of craniofacial surgery
2014

Gingival enlargement in partial hemifacial hyperplasia.

Journal of Indian Society of Periodontology
Ver todos os 31 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.
    Case reports in dentistry· 2025· PMID 41356493mais citado
  2. Congenital hemifacial hyperplasia-A diagnostic dilemma.
    National journal of maxillofacial surgery· 2025· PMID 40510696mais citado
  3. Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.
    BMC oral health· 2024· PMID 39707292mais citado
  4. Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.
    Journal of clinical medicine· 2023· PMID 38137792mais citado
  5. Hemifacial hypertrophy - Report of 2 cases.
    Indian journal of dental research : official publication of Indian Society for Dental Research· 2022· PMID 36656200mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:141145(Orphanet)
  2. OMIM OMIM:133900(OMIM)
  3. MONDO:0007590(MONDO)
  4. GARD:16971(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q17121807(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hipertrofia hemifacial
Compêndio · Raras BR

Hipertrofia hemifacial

ORPHA:141145 · MONDO:0007590
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
Q67.4 · Outras deformidades congênitas do crânio, da face e da mandíbula
CID-11
Início
Antenatal, Infancy, Neonatal
Prevalência
1.16 (United States)
MedGen
UMLS
C1399354
EuropePMC
Wikidata
Papers 10a
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