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Síndrome de fusão vertebral lombossacra posterior-blefaroptose
ORPHA:2064CID-10 · Q87.5OMIM 192800DOENÇA RARA

A síndrome de fusão posterior das vértebras lombossacras e blefaroptose é caracterizada por duas condições principais: a queda da pálpebra presente desde o nascimento (chamada de ptose congênita) e a fusão (ou seja, a união) na parte de trás dos ossos da coluna na região lombar e sacral (as vértebras lombossacras). Ela foi descrita em uma mãe e suas duas filhas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de fusão posterior das vértebras lombossacras e blefaroptose é caracterizada por duas condições principais: a queda da pálpebra presente desde o nascimento (chamada de ptose congênita) e a fusão (ou seja, a união) na parte de trás dos ossos da coluna na região lombar e sacral (as vértebras lombossacras). Ela foi descrita em uma mãe e suas duas filhas.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.5
🇧🇷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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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
3 sintomas
👁️
Olhos
2 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Fusão posterior das vértebras lombossacras
Muito frequente (99-80%)
90%prev.
Forma anormal dos corpos vertebrais
Muito frequente (99-80%)
90%prev.
Ptose
Muito frequente (99-80%)
55%prev.
Sinostose tarsal
Frequente (79-30%)
55%prev.
Rigidez articular
Frequente (79-30%)
55%prev.
Fosseta sacral
Frequente (79-30%)
9sintomas
Muito frequente (3)
Frequente (3)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.

Fusão posterior das vértebras lombossacrasPosterior fusion of lumbosacral vertebrae
Muito frequente (99-80%)90%
Forma anormal dos corpos vertebraisAbnormal form of the vertebral bodies
Muito frequente (99-80%)90%
PtosePtosis
Muito frequente (99-80%)90%
Sinostose tarsalTarsal synostosis
Frequente (79-30%)55%
Rigidez articularJoint stiffness
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos27publicações
Pico20216 papers
Linha do tempo
20202015Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de fusão vertebral lombossacra posterior-blefaroptose

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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.

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
0 papers (10 anos)
#1

Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.

Journal of spine surgery (Hong Kong)2026 Feb 15

There has not been universal consensus on the management of traumatic dural tears. This case report and systematic review highlighted the incidence, risk factors, diagnostic clues, surgical management and prognosis of dural rupture in the context of traumatic spinal fractures. A total of 3 databases were included in the literature search: PubMed, Cochrane and Scopus. Search terms included "(dural tear OR dural rupture)" AND "(vertebral fracture OR burst fracture)". Primary outcomes included (I) the incidence of dural tears and etiologies; (II) radiological risk factors; (III) time to surgery and preoperative neurology; (IV) dural repair method; (V) surgical stabilisation; (VI) complications; and (VII) postoperative neurological outcomes. A case of a 57-year-old male with accidental fall from height was presented. Despite being neurologically intact on admission, he developed acute cauda equina syndrome with imaging revealing a three-column L3 fracture with cauda equina compression. He subsequently underwent urgent first-stage posterior decompression and instrumented L2-L4 spinal fusion, during which a traumatic dural rupture caused by L3 lamina fracture was identified and primarily repaired. A second-stage anterior L3 corpectomy and anterior column reconstruction with fusion was performed. For the review, twenty-seven articles, including 8 case reports, were included. Incidence of dural tears after traumatic spinal fractures ranged from 2.9% to 94.7%. Interpedicular distance, presence of whole laminar fractures, central canal diameter and posterior element fractures were radiological indicators for dural lacerations. Most patients presented with incomplete neurological deficit and surgical intervention for most cases involved posterior stabilisation of spine with primary suture repair of the dural laceration. Complications included cerebrospinal fluid (CSF) leakage, pseudomeningoceles and nerve entrapment. Postoperative course was generally satisfactory with up to 61% of patients making complete recovery and returning to function. Dural tears were not uncommon after traumatic spinal injuries, especially in lumbosacral impaction or burst fractures. Radiographic predictors for dural lacerations included interpedicular distance and canal diameter. Current standard of dural repair involves primary suture, while adjunctive techniques (grafts and patches) were only recommended when primary repair was not feasible. The need for immediate surgical treatment is emphasized in patients with incomplete neurological deficits given their recovery potential.

#2

Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.

International journal of spine surgery2026 Feb 26

Far-out syndrome is considered a rare spinal disorder characterized by L5 radiculopathy due to extraforaminal stenosis at the lumbosacral junction. Despite advancements in surgical techniques, managing far-out syndrome remains a significant challenge owing to the complex anatomical variations usually associated with the condition. This article reports 2 cases of far-out syndrome resulting from anterolateral vertebral osteophyte formation that underwent anterior decompression. A comprehensive review of the literature is also provided. A 51-year-old man and a 72-year-old woman presented with progressive leg pain and neurogenic claudication associated with hypesthesia over the left L5 dermatome. Radiological findings in both patients revealed entrapment of the L5 nerve root by anterolateral vertebral osteophytes at the anterior exit zone of the foramen. One patient presented with Castellvi Type IV lumbosacral transitional vertebra, and the other patient showed spontaneous facet joint fusion at adjacent segments. We performed anterior-extraperitoneal osteophytectomy using an ultrasonic bone dissector to decompress the extraforaminal stenosis, which resulted in successful resolution of the symptoms and improved neurological status. Both patients remained asymptomatic at the 1-year follow-up. Extraforaminal stenosis at the lumbosacral junction due to anterolateral vertebral osteophytes usually occurs in patients with anatomical abnormalities such as lumbosacral transitional vertebra and adjacent segment fusion. Anterior decompression via extraperitoneal approach is an effective and safe treatment option for far-out syndrome, offering a viable alternative to the conventional posterior approach.

#3

First report of transient urinary retention after bilateral lumbar ESPB in a patient with FBSS: a case report.

Frontiers in medicine2025

The erector spinae plane block (ESPB) is a regional anesthesia technique increasingly used in recent years for postoperative analgesia in thoracic, abdominal, spinal, and hip surgeries. The adoption of this method has been encouraged by its technical simplicity and a low rate of complications. To date, no case reports have described transient urinary retention following lumbar ESPB. Here, we present the case of a 64-year-old male admitted after a fall that resulted in a right hip fracture. He had previously undergone L5/S1 posterior lumbar interbody fusion, which was unsuccessful, resulting in failed back surgery syndrome (FBSS). To alleviate preoperative lumbosacral pain, bilateral ultrasound-guided ESPB was performed at the L5 transverse process level at the bedside, with 20 mL of 0.2% ropivacaine administered on each side. The procedure was uneventful. Approximately 1 h after the block, the patient experienced a strong urge to void but was unable to urinate. Bedside bladder ultrasonography revealed marked bladder distension, and catheterization yielded 700 mL of urine. By the following morning, with the return of lumbosacral pain sensation, the patient regained spontaneous voiding without other neurological deficits. No recurrence occurred until discharge. This case suggests that in patients with a history of spinal surgery and altered paraspinal anatomy, ESPB may result in unintended blockade due to aberrant spread of local anesthetic into the epidural space. Consequently, a comprehensive preprocedural assessment of spinal anatomy and improved postoperative monitoring of lumbosacral plexus function are advised to ensure early detection and management of this rare complication.

#4

Unique Use of Posterior Sacroiliac Joint Fusion for Pain Relief in Bertolotti Syndrome.

Clinical case reports2025 Sep

This case highlights the potential effectiveness of posterior sacroiliac joint fusion in pain relief for patients with Bertolotti syndrome. When a patient presents with pain and lumbosacral transitional vertebrae on imaging, there should be a full evaluation for sacroiliac joint pathology, especially at the joint contralateral to the transitional vertebrae.

#5

Imaging Diagnosis of Pelvic Nerve Syndromes.

Magnetic resonance imaging clinics of North America2025 Aug

Pelvic pain syndromes are common and often neuropathic, with pudendal neuralgia being the most recognized. However, other nerves from the sacral and lumbar plexus-including the iliohypogastric, ilioinguinal, genitofemoral, and posterior femoral cutaneous branches-may also contribute to pelvic and genital neuropathic pain. Diagnosis is challenging due to complex pelvic neuroanatomy and overlapping etiologies. MR neurography plays a key role in evaluating affected nerves and musculoskeletal structures, with advanced sequences improving vascular suppression and nerve conspicuity. While ultrasound and CT mainly guide interventions, MR-ultrasound fusion imaging and MR neurography-guided perineural injections provide more accurate, image-guided treatment strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 27

2026

Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.

Journal of spine surgery (Hong Kong)
2026

Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.

International journal of spine surgery
2025

First report of transient urinary retention after bilateral lumbar ESPB in a patient with FBSS: a case report.

Frontiers in medicine
2025

Unique Use of Posterior Sacroiliac Joint Fusion for Pain Relief in Bertolotti Syndrome.

Clinical case reports
2025

Imaging Diagnosis of Pelvic Nerve Syndromes.

Magnetic resonance imaging clinics of North America
2025

Efficacy of Oblique Lateral Interbody Fusion at L5/S1 for Lumbosacral Transitional Vertebrae-Related Far-Out Syndrome: A Report of Two Cases.

Cureus
2024

Lumbosacral Traumatic Spondylolisthesis L5 to S1-Classification and Surgical Management of a Difficult Presentation.

International journal of spine surgery
2023

Spinal Shortening Surgery for Lumbosacral Nerve Bowstring Disease: A Surgical Technique.

Journal of visualized experiments : JoVE
2023

Does fusion length matter? Total hip arthroplasty dislocation after extension of lumbosacral fusion: a case report.

Spine deformity
2022

Prevalence of Bertolotti's Syndrome in Lumbosacral Surgery Procedures.

Cureus
2022

Iatrogenic nerve injury and foot drop: Surgical results in 28 patients.

Surgical neurology international
2022

The incidence of failed back surgery syndrome varies between clinical setting and procedure type.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2021

Isthmic spondylolisthesis treated with circumferential arthrodesis (ALIF and posterior fixation): correction, fusion and indirect decompression.

Acta orthopaedica Belgica
2021

Surgical Management of Thoracolumbar Scoliosis Secondary to Hip Joint Ankylosis and Severe Pelvic Obliquity.

Cureus
2021

Pediatric Back Pain Associated with Bertolotti Syndrome: A Report of 3 Cases with Varying Treatment Strategies.

JBJS case connector
2021

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations.

SAGE open medicine
2021

Pelvic Fixation Using S2AI and Triangular Titanium Implants (Bedrock Technique).

World neurosurgery
2021

Cauda equina syndrome due to herpes simplex virus type 2-associated meningoradiculitis (Elsberg syndrome) after posterior lumbar spinal fusion surgery: Case report and review of literature.

Clinical neurology and neurosurgery
2020

Effects of Lumbar Fusion Instrumentation Removal in Patients Who Experienced Continued Pain After Lumbar Spinal Fusion Surgery for Lumbar Degenerative Disease.

Turkish neurosurgery
2020

Combined Posterior-Anterior Interbody Fusion in the Management of Traumatic Lumbosacral Dissociation: A Case Report and Review of Literature.

Cureus
2020

Progressive double major scoliotic curve with concurrent lumbosacral spondylolisthesis in a skeletally immature patient with Marfan syndrome treated with anterior scoliosis correction.

Spine deformity
2019

Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.

Pigment cell &amp; melanoma research
2018

Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.

Journal of pediatric orthopedics
2018

Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.

The journal of spinal cord medicine
2015

Hemivertebra Resection With Instrumented Fusion by Posterior Approach in Children.

Spine deformity
2016

Multiple Spinal Revision Surgery in a Patient with Parkinson's Disease.

Journal of Korean Neurosurgical Society
2016

Thoracolumbar kyphoscoliosis with unilateral subluxation of the spine and postoperative lumbar spondylolisthesis in Hunter syndrome.

Journal of neurosurgery. Spine

Associações

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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. Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.
    Journal of spine surgery (Hong Kong)· 2026· PMID 41810395mais citado
  2. Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.
    International journal of spine surgery· 2026· PMID 41285585mais citado
  3. First report of transient urinary retention after bilateral lumbar ESPB in a patient with FBSS: a case report.
    Frontiers in medicine· 2025· PMID 41140669mais citado
  4. Unique Use of Posterior Sacroiliac Joint Fusion for Pain Relief in Bertolotti Syndrome.
    Clinical case reports· 2025· PMID 40860305mais citado
  5. Imaging Diagnosis of Pelvic Nerve Syndromes.
    Magnetic resonance imaging clinics of North America· 2025· PMID 40610162mais citado
  6. Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
    J Spinal Cord Med· 2018· PMID 28875772recente
  7. Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation.
    Spine (Phila Pa 1976)· 2006· PMID 16648737recente
  8. F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family.
    Am J Med Genet· 1995· PMID 7677153recente
  9. Spondylocostal dysostosis with perinatal death and meningomyelocele.
    Pediatr Pathol· 1994· PMID 8159620recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2064(Orphanet)
  2. OMIM OMIM:192800(OMIM)
  3. MONDO:0008650(MONDO)
  4. GARD:2276(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55781605(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

Compêndio · Raras BR

Síndrome de fusão vertebral lombossacra posterior-blefaroptose

ORPHA:2064 · MONDO:0008650
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1860464
Wikidata
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