Síndrome caracterizada pela associação de anormalidades esqueléticas, cútis laxa, craniostenose, genitália ambígua, retardo psicomotor e anormalidades faciais. Até agora, foi descrito em dois homens (primos-irmãos maternos). O modo de herança foi sugerido como sendo recessivo ligado ao X.
Introdução
O que você precisa saber de cara
Síndrome caracterizada pela associação de anormalidades esqueléticas, cútis laxa, craniostenose, genitália ambígua, retardo psicomotor e anormalidades faciais. Até agora, foi descrito em dois homens (primos-irmãos maternos). O modo de herança foi sugerido como sendo recessivo ligado ao X.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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
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 SCARF
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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
Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.
We report a six-year-old child with SCARF syndrome (skeletal anomaly, cutis laxa, ambiguous genitalia, mental retardation and distinct facial features) who presented with unilateral teratologic hip dislocation. She underwent an open reduction of her hip with femoral and pelvis osteotomies. At six years follow-up, she was asymptomatic with a mild lurch, a leg length discrepancy of 1.5cms and a good range of motion at the hip. A mild shortening of the femoral neck was noted but the joint was congruous and concentrically reduced at 6 years. The management principles must follow an aggressive approach which includes open reduction of the hip, femoral and pelvic osteotomies with a good capsular repair. We may expect good hip development after surgical intervention even in a child with increased elasticity due to this genetic condition.
Scarf Injury: a qualitative examination of the emergency response and acute care pathway from a unique mechanism of road traffic injury in Bangladesh.
Road traffic injuries (RTI) are the leading cause of death worldwide in children over 5 and adults aged 18-29. Nonfatal RTIs result in 20-50 million annual injuries. In Bangladesh, a new mechanism of RTI has emerged over the past decade known as a 'scarf injury.' Scarf injuries occur when scarves, part of traditional female dress, are caught in the driveshaft of an autorickshaw. The mechanism of injury results in novel, strangulation-like cervical spine trauma. This study aimed to understand the immediate emergency response, acute care pathway, and subsequent functional and health outcomes for survivors of scarf injuries. Key informant interviews were conducted with female scarf injury survivors (n = 12), caregivers (n = 6), and health care workers (n = 15). Themes and subthemes were identified via inductive content analysis, then applied to the three-delay model to examine specific breakdowns in pre-hospital care and provide a basis for future interventions. Over half of the scarf injury patients were between the ages of 10 and 15. All but two were tetraplegic. Participants emphasized less than optimal patient outcomes were due to unawareness of scarf injuries and spinal cord injuries among the general public and health professionals; unsafe and inefficient bystander first aid and transportation; and high cost of acute health care. Females in Bangladesh are at significant risk of sustaining serious and life-threatening trauma through scarf injuries in autorickshaws, further worsened through inadequate care along the trauma care pathway. Interventions designed to increase awareness and knowledge of basic SCI care at the community and provider level would likely improve health and functional outcomes.
Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.
Accidental strangulation due to scarf getting caught in the wheels of a vehicle or machine was called "Isadora Duncan Syndrome" or "Long Scarf Syndrome". Survival of concomitant fracture dislocation of cervical spine and oesophageal perforation following Long Scarf Syndrome was rarely described and medium-term follow-up for this lesion has not been reported. We present a 39-year-old female who suffered accidental strangulation caused by the scarf around her neck getting trapped in the wheels of the a vehicle and was referred to our hospital forty days post injury. The CT examination showed a fracture dislocation at C5/6 levels with complete dissociation of the supporting structures. She developed paravertebral abscesses, cutaneous fistulas and oesophageal perforation confirmed by oesophagoscope. The patient was treated conservatively because of poor general condition and inappropriate initial treatment. Halo-vest was used to immobilize the cervical spine. The oesophagus-cutaneous fistula was managed with enteral tube feeding and repeated local care. The patient survived despite such severe injury. Nine months after the injury, the oesophageal perforation closed spontaneously and fixed malunion of the cervical spine was achieved. Six-year follow-up demonstrated that the patient survived with complete C5 tetraplegia. Literature associated with this lesion was reviewed and factors contributing to the survival were discussed. Concomitant fracture dislocation of cervical spine and oesophageal perforation following Long Scarf Syndrome is extremely rare with high risk of mortality. Though surgical intervention is always necessary, the optimal management for this kind of lesion should be made on an individual basis through a multidisciplinary approach.
[Isadora Duncan syndrome : Lethal strangulation injuries caused by filling equipment].
Aside from suicide attempts or autoerotic accidents, serious injuries from strangulation are rare. In 1929, the accidental death of the famous dancer Isadora Duncan gained high profile. However, even today there are reports of accidental strangulations. These are referred to as Isadora Duncan or long-scarf syndrome and are oftentimes lethal. In the pre-hospital setting, airway management has been challenging, as even a correctly placed airway device may initiate a rapid and marked deterioration of the patient's condition. The case history at hand outlines the death of a 47-year-old female, following entanglement of her scarf in bottling equipment.
Publicações recentes
Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.
Scarf Injury: a qualitative examination of the emergency response and acute care pathway from a unique mechanism of road traffic injury in Bangladesh.
Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.
[Isadora Duncan syndrome : Lethal strangulation injuries caused by filling equipment].
A rare case report: SCARF syndrome.
📚 EuropePMC7 artigos no totalmostrando 4
Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.
JBJS case connectorScarf Injury: a qualitative examination of the emergency response and acute care pathway from a unique mechanism of road traffic injury in Bangladesh.
BMC emergency medicineSix-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.
BMC musculoskeletal disorders[Isadora Duncan syndrome : Lethal strangulation injuries caused by filling equipment].
Der AnaesthesistAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome SCARF.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome SCARF
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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.
- Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.
- Scarf Injury: a qualitative examination of the emergency response and acute care pathway from a unique mechanism of road traffic injury in Bangladesh.
- Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.
- [Isadora Duncan syndrome : Lethal strangulation injuries caused by filling equipment].
- A rare case report: SCARF syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3134(Orphanet)
- OMIM OMIM:312830(OMIM)
- MONDO:0010728(MONDO)
- GARD:247(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q7389072(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
