A síndrome de Hallermann-Streiff é uma síndrome genética rara caracterizada principalmente por anormalidades faciais e da cabeça, como fácies semelhante a um pássaro (com nariz em formato de bico e retrognatia), mandíbula hipoplásica, braquicefalia com protuberância frontal, anormalidades dentárias (por exemplo, ausência de dentes, dentes natais, dentes supranumerários, agenesia grave de dentes permanentes, hipoplasia do esmalte), hipotricose, vários distúrbios oftalmológicos (por exemplo, catarata congênita, microftalmia bilateral, ptose, nistagmo) e atrofia da pele (especialmente ao redor do centro da face e nariz), bem como telangiectasia e baixa estatura proporcional. A deficiência intelectual é relatada em alguns casos.
Introdução
O que você precisa saber de cara
A Síndrome Hallermann-Streiff é uma condição genética rara que altera o desenvolvimento dos ossos do rosto, dos dentes e dos olhos. Desde os primeiros meses de vida, a família costuma observar o queixo pequeno e recuado, o nariz fino em formato de bico e problemas visuais como a catarata congênita. Esta enfermidade não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde e não possui medicamentos específicos distribuídos na rede pública. O cuidado pelo SUS envolve o acompanhamento médico de suporte e o procedimento oficial de atendimento em reabilitação voltado a doenças raras.
A síndrome de Hallermann-Streiff é uma síndrome genética rara caracterizada principalmente por anormalidades faciais e da cabeça, como fácies semelhante a um pássaro (com nariz em formato de bico e retrognatia), mandíbula hipoplásica, braquicefalia com protuberância frontal, anormalidades dentárias (por exemplo, ausência de dentes, dentes natais, dentes supranumerários, agenesia grave de dentes permanentes, hipoplasia do esmalte), hipotricose, vários distúrbios oftalmológicos (por exemplo, catarata congênita, microftalmia bilateral, ptose, nistagmo) e atrofia da pele (especialmente ao redor do centro da face e nariz), bem como telangiectasia e baixa estatura proporcional. A deficiência intelectual é relatada em alguns casos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 96 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable, Unknown.
Variantes genéticas (ClinVar)
8 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Hallermann-Streiff
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.
Monozygotic Twins of Different Religions: Causes and Consequences/Twin Research Reviews: Language Development in Dizygotic Twins; MZ Twins with Hallermann-Streiff Syndrome; Digital Twins and Asthma Research; Zygosity Revealed/Human Interest: A Pen Turned Holocaust Children Into Twins; Identical Twin Jeopardy Winners; Twin Hostages Freed From Gaza; Loss of a Twin Son; Fraternal Twin Mountaineers; Twins in the Sydney to Hobart Yacht Race; Twin Patron Saints of Cobblers.
Monozyotic (MZ) twins reared together are typically raised in the same religion, as are all children in a family. However, a young pair of MZ male twins, raised together, but with different religions, was identified and raises interesting issues that warrant consideration. This case, as well as those of reared-apart MZ twins who adopt different religions due to their family background or other circumstances, are summarized. A review of recent and current twin research follows. The studies included here concern language development in a pair of dizygotic (DZ) female twins, the second case of MZ twins with presumed Hallermann-Streiff syndrome, and the use of digital twins to advance asthma research. The final entry in the research section describes parents' responses to their twin children's misdiagnosed zygosity. Human interest stories involving twins - some entertaining, but all informative - include a pen that saved nontwin Holocaust children by assigning them as twins, identical twin Jeopardy winners, twin hostages freed from Gaza, loss of a twin son, fraternal twin mountaineers, twin sailors in the Sydney to Hobart Yacht Race, and the twin Patron Saints of Cobblers.
Peri-implant Femoral Fracture: An Uncommon Presentation in a Patient with Hallermann-Streiff Syndrome - A Case Report and Review of the Literature.
Hallermann-Streiff syndrome (HSS) is a globally rare congenital condition of unknown etiology, with approximately 200 cases reported worldwide. Although its skeletal morphological abnormalities are well recognized, traumatic and periprosthetic fractures have not been documented. These anatomical variations pose significant challenges for determining the optimal therapeutic approach, particularly in acute trauma settings. We report the case of a 12-year-old male from Mexico who presented to the emergency department after a fall from standing height, sustaining direct trauma to the right hemibody. His medical history included a right femoral fracture 5 years earlier. Intraoperative findings revealed pronounced femoral shaft thinning, and open reduction and internal fixation (ORIF) with a low-profile plate was performed. The post-operative course was favorable, with satisfactory clinical and radiological progression at 6 months. This case illustrates the complex skeletal involvement associated with HSS and underscores the need for individualized surgical planning within a multidisciplinary framework. This case contributes valuable evidence to the limited literature on HSS by documenting a traumatic fracture requiring surgical management in a patient with this rare syndrome. Recognition of skeletal abnormalities and coordinated multidisciplinary care are essential for improving diagnosis, treatment, and follow-up in similar future presentations.
Corrigendum: Long term NIV in an infant with Hallermann-Streiff syndrome: a case report and overview of respiratory morbidity.
[This corrects the article DOI: 10.3389/fped.2022.1039964.].
Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
Publicações recentes
Monozygotic Twins of Different Religions: Causes and Consequences/Twin Research Reviews: Language Development in Dizygotic Twins; MZ Twins with Hallermann-Streiff Syndrome; Digital Twins and Asthma Research; Zygosity Revealed/Human Interest: A Pen Turned Holocaust Children Into Twins; Identical Twin Jeopardy Winners; Twin Hostages Freed From Gaza; Loss of a Twin Son; Fraternal Twin Mountaineers; Twins in the Sydney to Hobart Yacht Race; Twin Patron Saints of Cobblers.
A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.
Peri-implant Femoral Fracture: An Uncommon Presentation in a Patient with Hallermann-Streiff Syndrome - A Case Report and Review of the Literature.
Corrigendum: Long term NIV in an infant with Hallermann-Streiff syndrome: a case report and overview of respiratory morbidity.
Born Apart, but Raised Together: Twins Delivered in Different Countries/Twin Research Reviews: Hallermann-Streiff Syndrome in Monozygotic (MZ) Twins; Effects of Technology on Conjoined Twin Separation; Reciprocal DIEP Transplantation Between MZ Twins; Guidelines for Multifetal Management/Media Reports: Book by World's Oldest Auschwitz-Birkenau Twin Survivor; Passing of Ian Wilmut; Zhores Medvedev Was an Identical Twin; More Gay Fathers with Twin Sons; Twins and Siblings Admitted to Medical School; First and Fourth Records for Major League Baseball Twins.
📚 EuropePMC152 artigos no totalmostrando 34
Monozygotic Twins of Different Religions: Causes and Consequences/Twin Research Reviews: Language Development in Dizygotic Twins; MZ Twins with Hallermann-Streiff Syndrome; Digital Twins and Asthma Research; Zygosity Revealed/Human Interest: A Pen Turned Holocaust Children Into Twins; Identical Twin Jeopardy Winners; Twin Hostages Freed From Gaza; Loss of a Twin Son; Fraternal Twin Mountaineers; Twins in the Sydney to Hobart Yacht Race; Twin Patron Saints of Cobblers.
Twin research and human genetics : the official journal of the International Society for Twin StudiesA review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.
Orphanet journal of rare diseasesPeri-implant Femoral Fracture: An Uncommon Presentation in a Patient with Hallermann-Streiff Syndrome - A Case Report and Review of the Literature.
Journal of orthopaedic case reportsCorrigendum: Long term NIV in an infant with Hallermann-Streiff syndrome: a case report and overview of respiratory morbidity.
Frontiers in pediatricsBorn Apart, but Raised Together: Twins Delivered in Different Countries/Twin Research Reviews: Hallermann-Streiff Syndrome in Monozygotic (MZ) Twins; Effects of Technology on Conjoined Twin Separation; Reciprocal DIEP Transplantation Between MZ Twins; Guidelines for Multifetal Management/Media Reports: Book by World's Oldest Auschwitz-Birkenau Twin Survivor; Passing of Ian Wilmut; Zhores Medvedev Was an Identical Twin; More Gay Fathers with Twin Sons; Twins and Siblings Admitted to Medical School; First and Fourth Records for Major League Baseball Twins.
Twin research and human genetics : the official journal of the International Society for Twin StudiesNovel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
Acta neurologica BelgicaHallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty.
CorneaHallermann-Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction.
Case reports in medicineLong term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity.
Frontiers in pediatricsEndotracheal intubation in an adult patient of Hallermann-Streiff syndrome-Case report and review of literature.
Journal of anaesthesiology, clinical pharmacologyHallermann-Streiff syndrome diagnosed in the seventh decade of life.
American journal of ophthalmology case reportsHallermann-Streiff Syndrome and Psychosis: A Case Report.
HCA healthcare journal of medicineBilateral retinal detachment in Hallermann-Streiff syndrome: Case report.
Journal francais d'ophtalmologieHallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases.
Journal of stomatology, oral and maxillofacial surgeryDiagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature.
Pediatric annalsOverarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Nature communicationsFifty years of recognizable patterns of human malformation: Insights and opportunities.
American journal of medical genetics. Part APrevalence of Hallermann-Streiff syndrome in a Japanese pediatric population.
Pediatrics international : official journal of the Japan Pediatric Society[Dental complications of the mandibular distraction osteogenesis].
StomatologiiaImplant-Supported Maxillary and Mandibular Rehabilitation in a Patient With Hallermann-Streiff Syndrome.
The Journal of craniofacial surgeryHallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report.
MedicineUnsolved recognizable patterns of human malformation: Challenges and opportunities.
American journal of medical genetics. Part C, Seminars in medical geneticsHallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome.
American journal of medical genetics. Part C, Seminars in medical geneticsHallermann-Streiff Syndrome: Difficulty in airway increases with increasing age.
Journal of clinical anesthesiaHallermann Streiff syndrome: 'Bird faced' but not 'bird brained'.
Medical journal, Armed Forces IndiaDiagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCongenital Abnormalities of the Temporomandibular Joint.
Oral and maxillofacial surgery clinics of North AmericaHallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption.
International journal of ophthalmologyEXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME.
Retinal cases & brief reportsSyndromes with supernumerary teeth.
American journal of medical genetics. Part AComplex Cases in Pediatric Cataract.
Developments in ophthalmologyBrown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome.
Korean journal of ophthalmology : KJOTreatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling.
International journal of oral and maxillofacial surgeryComprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth.
Nigerian journal of clinical practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Hallermann-Streiff.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome Hallermann-Streiff e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Não há cura conhecida nem medicamentos aprovados com finalidade curativa para esta síndrome genética. O cuidado é direcionado ao manejo das alterações respiratórias, oculares e craniofaciais apresentadas pela pessoa.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome Hallermann-Streiff. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-hallermann-streiff
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome Hallermann-Streiff
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
