Raras
Buscar doenças, sintomas, genes...
Síndrome de apêndice caudal-surdez
ORPHA:1123CID-10 · Q87.8CID-11 · LD2H.YDOENÇA RARA

A síndrome do apêndice caudal e surdez se caracteriza pela presença de um apêndice semelhante a uma cauda, ossos curtos nas pontas dos dedos das mãos e dos pés, surdez, testículos que não desceram, deficiência intelectual, baixa estatura e diferenças nas características físicas. Ela foi descrita em meninos gêmeos idênticos.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome do apêndice caudal e surdez se caracteriza pela presença de um apêndice semelhante a uma cauda, ossos curtos nas pontas dos dedos das mãos e dos pés, surdez, testículos que não desceram, deficiência intelectual, baixa estatura e diferenças nas características físicas. Ela foi descrita em meninos gêmeos idênticos.

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
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷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

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

🦴
Ossos e articulações
2 sintomas
😀
Face
1 sintomas
👂
Ouvidos
1 sintomas
🧠
Neurológico
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

55%prev.
Criptorquidia
Frequente (79-30%)
55%prev.
Formato facial anormal
Frequente (79-30%)
55%prev.
Morfologia anormal do dígito
Frequente (79-30%)
55%prev.
Baixa estatura
Frequente (79-30%)
55%prev.
Apêndice caudal
Frequente (79-30%)
55%prev.
Deficiência auditiva neurossensorial infantil
Frequente (79-30%)
7sintomas
Frequente (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.

CriptorquidiaCryptorchidism
Frequente (79-30%)55%
Formato facial anormalAbnormal facial shape
Frequente (79-30%)55%
Morfologia anormal do dígitoAbnormal digit morphology
Frequente (79-30%)55%
Baixa estaturaShort stature
Frequente (79-30%)55%
Apêndice caudalCaudal appendage
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202486 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano 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 apêndice caudal-surdez

🗺️

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.

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Publicações mais relevantes

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

A rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.

The Journal of veterinary medical science2026 Feb 23

A 6-year-old intact male French Bulldog presented with a 5-day history of vomiting. Radiographs revealed a round soft tissue mass in the right caudal thoracic cavity with tubular structures suggestive of small intestinal herniation through the diaphragm. Ultrasonography confirmed herniation of fluid-filled small intestinal loops and hepatic lobes positioned cranial to the diaphragm. Computed tomography (CT) revealed herniation of the involved organs through a dilated caval foramen and secondary caudal vena cava compression, consistent with Budd-Chiari-like syndrome resulting from venous outflow obstruction. Laparotomy confirmed strangulation of herniated organs, necessitating partial hepatectomy and segmental enterectomy. This case highlights the potential for small intestinal involvement in caval foramen hernia and underscores the diagnostic value of CT in assessing associated vascular compromise.

#2

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

BMJ case reports2026 Feb 10

Prune belly syndrome (PBS) is a rare congenital disorder predominantly affecting male infants and is characterised by deficient abdominal musculature, urinary tract anomalies and bilateral cryptorchidism. Its multisystem involvement presents significant anaesthetic challenges. We report the anaesthetic management of a male infant with PBS posted for laparoscopic first-stage orchidopexy. Examination revealed a flabby, wrinkled abdomen with bulging flanks, easily palpable enlarged hydronephrotic kidneys, a hypoplastic scrotum and absent testes. After obtaining written informed consent and ensuring appropriate fasting, caudal anaesthesia was administered in the lateral position under ketamine sedation. Surgery was performed laparoscopically in the supine position. Adequate surgical conditions were achieved without airway instrumentation or neuromuscular blockade, and the perioperative course was uneventful. This case highlights that in carefully selected infants undergoing short, uncomplicated laparoscopic procedures, high-volume dilute caudal anaesthesia with sedation can be a safe and effective alternative to general anaesthesia in PBS.

#3

Sacral dimple: clinical perspectives of lesions hidden beneath the skin.

Clinical and experimental pediatrics2026 Feb

Sacral dimples are the most common cutaneous anomalies in newborns. While usually benign anatomical variants, some dimples are indicative of occult spinal dysraphism, such as a tethered cord, dermal sinus tract, or lipomyelomeningocele, that, if undiagnosed, may cause irreversible neurological, orthopedic, and urological deficits. Distinguishing benign from high-risk dimples is essential for timely intervention. This review summarizes the embryological origins, diagnostic criteria, imaging approaches, and management strategies for sacral dimples to help clinicians identify cases requiring further evaluation. A comprehensive literature review examines the embryology of caudal spinal development, classification of spinal dysraphism, and studies of the diagnostic accuracy of ultrasonography and magnetic resonance imaging (MRI) in infants with sacral dimples. Guidelines and high-quality studies of the surgical outcomes of tethered cords and related anomalies were also analyzed. The literature search and study selection followed the Preferred Reporting Items for Systematic Reviews and Meta- Analyses flow. Simple sacral dimples-solitary midline depressions less than 5 mm in diameter, located within 2.5 cm of the anus, and lacking associated cutaneous stigmata-are not associated with spinal dysraphism and do not require imaging. In contrast, atypical dimples (large, deep, off-midline, or associated with skin markers such as hair tufts or hemangiomas) are significantly associated with occult anomalies and warrant imaging, beginning with spinal ultrasonography in neonates and MRI in older infants or equivocal cases. Conditions such as tethered cord, dermal sinus tract, lipomyelomeningocele, and split cord malformations are best visualized using MRI. Early surgical detethering improves neurological, orthopedic, and bladder outcomes, whereas delayed intervention risks permanent deficits. Applying standardized criteria and targeted imaging avoids unnecessary investigations while ensuring a timely diagnosis of occult spinal dysraphism. Early recognition and appropriate surgical management, when indicated, are critical for preventing neurological deterioration and improving the prognosis of affected infants.

#4

[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca2026 Mar

To develop an anatomically verified protocol for ultrasound-guided analgesic interventions targeting the thoracolumbar fascia region for the treatment of both acute and chronic back pain. One cadaver was embalmed using the Fix-4-Life method, which preserves tissue properties suitable for subsequent ultrasound visualization. Under ultrasound guidance, a needle was inserted to the thoracolumbar fascia at the level of the transverse process of the fourth lumbar vertebra. Upon contact with the transverse process, 5 ml of diluted red latex dye was injected. The distribution of the injected fluid was then observed through anatomical dissection. This cadaveric study confirmed that ultrasound-guided injection into the middle layer of the thoracolumbar fascia is both accurate and technically feasible. The dye demonstrated substantial potential to spread within the targeted area, distributing mediolaterally among the structures of the m. erector trunci and cranio-caudally over a range exceeding 10 cm, encompassing nearly four spinal segments. Back pain of various etiologies remains a major interdisciplinary challenge. Refining therapeutic techniques may improve the outcomes. The thoracolumbar fascia represents a promising target for delivering local anesthetics, depot corticosteroids, and next-generation hyaluronic acid derivatives. This study confirms the accuracy and feasibility of ultrasound-guided interventions targeting the thoracolumbar fascia.

#5

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies2026

Currarino syndrome (CS) is a congenital disorder caused by MNX1 gene mutation, resulting in abnormal caudal cell mass development. Clinical presentation varies from severe to mild forms. Classic triad of CS includes sacral agenesis, presacral mass, and anorectal malformation (ARM). We report a pair of monozygotic twins, both with the MNX1: c.780C>G mutation, presenting with different clinical phenotypes of Currarino syndrome (CS). Both were suspected of anorectal atresia in utero, and postnatal diagnosis confirmed CS with tethered cord syndrome (TCS). They underwent staged surgeries, with normal growth at 10 months follow-up. Additionally, a retrospective analysis of 95 CS cases diagnosed between April 2010 and April 2024 at Shanghai Xinhua Hospital was performed. Clinical, imaging, and pathological data were collected, and binary logistic regression was used to analyze the correlation between clinical factors and TCS. A literature review of twin CS cases was also conducted. Of the 95 patients, 23.2% had complete CS, and 76.8% had incomplete CS. TCS was present in 55.8% of cases. Logistic regression showed no significant correlation between age, sex, sacral deformity severity, ARM type, presacral mass, and TCS. Two previous twin CS cases were identified, both with differing phenotypes. CS exhibits phenotypic variability, and monozygotic twins with the same MNX1 mutation may present with different severities. The MNX1: c.780C>G mutation broadens the genetic spectrum of CS. TCS is common, emphasizing the need for multidisciplinary management. Surgical approaches should be personalized based on presentation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
2026

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies
2026

Elastographic Evaluation of the Adrenal Glands of Dogs With Hypercortisolism.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2026

Ultrasound-guided selective nerve root blocks and caudal epidural injection in the management of lumbar radicular syndrome: a case series with one-year follow-up.

Journal of ultrasound
2026

Cauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Unilateral biportal endoscopic partial cervical laminectomy and facetectomy: An ex vivo study and case report.

Veterinary surgery : VS
2026

A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.

Genes
2026

Correlation between cerebellar lesion topography and differential diagnosis with clinical presentation in dogs.

Journal of veterinary internal medicine
2026

A rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.

The Journal of veterinary medical science
2026

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Autism research : official journal of the International Society for Autism Research
2026

Optimizing Venographic Referrals in Pelvic Congestion Syndrome: A Prospective Diagnostic Accuracy Study of Ultrasound-Based Scoring to Guide Selective Venography.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2026

An Unusual Case of Persistent Vitelline Vein in a Pediatric Liver Transplant Recipient: A Case Report.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2026

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

American journal of medical genetics. Part A
2025

Case Report: Budd-Chiari-like syndrome in a cat with polycystic kidney and liver disease.

Frontiers in veterinary science
2026

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

BMJ case reports
2026

Caudal Duplication Syndrome: A Case Report Emphasizing Functional Assessment in Surgical Management.

Cureus
2026

Neurotoxicity Mechanisms of Per- and Polyfluoroalkyl Substances: An Integrated Study of Network Toxicology, Molecular Docking, and Mendelian Randomization.

Neurotoxicity research
2026

Acute fibrinous and organizing pneumonia in a dog, and brief literature review.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2025

Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Cureus
2025

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.

Cureus
2025

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.

Cureus
2026

Interleukin-6 as a keystone cytokine in experimental rat models of chemotherapy-induced peripheral neurotoxicity.

Scientific reports
2026

Spinal Cord Stimulation as a Potential Therapeutic Modality for Managing Concurrent Chronic Low Back and Abdominal Pain Complicated by Device Migration: A Case Report.

Clinical case reports
2025

Compressive spontaneous spinal epidural hematoma following cervical laminoplasty and the role of multimodal neuromonitoring: a case report.

Journal of spine surgery (Hong Kong)
2025

Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.

Cureus
2026

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

EBioMedicine
2025

Meige syndrome, a cranio-cervical dystonia with a unique clinical phenotype.

Revue neurologique
2026

Sacral dimple: clinical perspectives of lesions hidden beneath the skin.

Clinical and experimental pediatrics
2025

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

Cureus
2025

Beyond Parkinson's Disease: A Narrative Review of Neuromelanin MRI in Neurodegenerative Diseases.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2025

The Effects of Caudal Epidural Injection on Optic Nerve Sheath Diameter and Hemodynamic Parameters in Adults with Failed Back Surgery Syndrome: A Prospective Clinical Study.

Anesthesiology and pain medicine
2025

Impact of Dihydrocapsaicin on the Metabolism of Efavirenz In Vitro and In Vivo.

Pharmacology research &amp; perspectives
2025

Hybrid lead extraction and reconstruction of the superior vena cava and right atrium for a rare type of superior vena cava syndrome: a case report.

European heart journal. Case reports
2025

The prevalence of aberrant turbinates and nasal septum deviation in a Portuguese population of French bulldogs.

Brazilian journal of veterinary medicine
2025

FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.

Birth defects research
2026

A novel dynamic abdominal wall traction system for open abdomen: preclinical evaluation.

Injury
2025

The First Case of Liver-Intestine En-Bloc Transplantation in Japan.

Surgical case reports
2026

Folded-flap palatoplasty and traditional staphylectomy yield similar postoperative soft palate geometry in French Bulldogs undergoing airway surgery.

Journal of the American Veterinary Medical Association
2025

Sirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination.

Clinical case reports
2025

[Dynamics of caudal dystopia of cerebellar tonsils in patients with craniosynostosis following posterior cranial distraction].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Evaluating Sensory Restoration Following Surgical Intervention for Tethered Cord Syndrome: A Scoping Review and Illustrative Cases.

World neurosurgery
2025

Sirenomelia in Twin IVF Pregnancy: A Rare Case Report.

Clinical case reports
2025

Effective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2025

First report of aberrant Mystus vittatus (Bloch, 1794) from wild population in the Gomti River, Uttar Pradesh, India, based on integrative approach: a new conservation concern.

Environmental monitoring and assessment
2025

Impinging and Overriding Spinous Processes in Horses: A Narrative Review.

Animals : an open access journal from MDPI
2025

Spontaneous Unilateral Extracranial Internal Carotid Artery Dissection and Pseudoaneurysm Presenting as Complete Caudal Cranial Nerve Palsy.

Clinical case reports
2025

Sex-specific brain atrophy patterns associated with the motoric cognitive risk syndrome.

Journal of Alzheimer's disease : JAD
2025

Generation of two induced pluripotent stem cell lines from Lynch syndrome patients carrying heterozygous MLH1 mutations.

Stem cell research
2025

Correlation between neurogenic injury and lumbar disc degeneration in tethered cord syndrome: a retrospective MRI study based on somatosensory evoked potentials.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2025

Analysis of cervical tracheal characteristics of obstructive sleep apnoea-hypopnoea syndrome patients using ultrasound.

Frontiers in medicine
2025

Imaging Spectrum of Congenital Spinal Abnormalities: A Pictorial Review.

Cureus
2025

Localization and connections of the tail of caudate and caudal putamen in mouse brain.

Frontiers in neural circuits
2025

Evaluation of a caudal midline glossectomy on tongue volume and upper airway cross-sectional areas in brachycephalic dogs: a cadaveric study.

Frontiers in veterinary science
2025

Case Report: Successful management of acute kidney injury following interventional heartworm extraction in a dog with caval syndrome.

Frontiers in veterinary science
2024

Caudal and Thalamic Segregation in White Matter Brain Network Communities in Alzheimer's Disease Population.

... IEEE-EMBS International Conference on Biomedical and Health Informatics. IEEE-EMBS International Conference on Biomedical and Health Informatics
2025

Prenatal diagnosis of caudal regression syndrome with maternal diabetes mellitus via ultrasound: a case description.

Quantitative imaging in medicine and surgery
2025

Anatomical and histological characterization of the filum terminale in dogs.

Frontiers in veterinary science
2025

Sacral Agenesis Type II in a 12-Year-Old Patient: A Delayed Presentation in a Low-Resource Setting.

Cureus
2025

Bertolotti Syndrome: Surgical Treatment in a Middle-Aged Triathlete-A Case Report.

Healthcare (Basel, Switzerland)
2025

Minimally invasive full endoscopic resection of the anomalous transverse process in Bertolotti's syndrome: illustrative case.

Journal of neurosurgery. Case lessons
2025

Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.

The Journal of craniofacial surgery
2025

Sjögren's syndrome is associated with a reduction in the surface area of the right caudal anterior cingulate gyrus.

BMC medicine
2025

Metformin-improved cognitive impairment in patients with schizophrenia is correlated with activation of tricarboxylic acid cycle and restored functional connectivity of hippocampus.

BMC medicine
2024

Peripheral Nerve Stimulation for Occipital Neuralgia: A Parallel Approach.

Pain medicine case reports
2025

West Nile neuroinvasive disease with poliomyelitis syndrome: A grave phenomenon.

SAGE open medical case reports
2025

White matter abnormalities of the frontal-striatal-thalamic circuit in individuals with attenuated positive symptom syndromes: a probabilistic tractography study.

Schizophrenia (Heidelberg, Germany)
2025

Neurosurgical management of a giant anterior sacral meningocele in a patient with combined Currarino syndrome and caudal duplication anomaly: illustrative case.

Journal of neurosurgery. Case lessons
2025

Aphallia in a patient with 9q34 duplication syndrome: a case report.

BMC urology
2025

Endoscopically Assisted Release Surgery for Idiopathic Spinal Cord Herniation: Technical Case Instruction.

Operative neurosurgery (Hagerstown, Md.)
2025

Surgically Relevant Anatomy of Marfan Vertebrae.

Journal of pediatric orthopedics
2025

Bilateral Persistent Sciatic Veins: A Cadaveric Case Report.

The Kurume medical journal
2025

Rare mutations implicate CGE interneurons as a vulnerable axis of cognitive deficits across psychiatric disorders.

bioRxiv : the preprint server for biology
2025

Lateral Medullary Infarction Presenting as Opalski Syndrome Associated with Headache Attributed to Orthostatic Hypotension.

Internal medicine (Tokyo, Japan)
2025

Lumbosacral (myelo) meningoceles in dogs, related tethered cord syndrome, and their surgical management: review of the literature and clinical experience.

Frontiers in veterinary science
2025

Subchronic and Acute Toxicity of 6PPD-Quinone to Early Life Stage Rainbow Trout (Oncorhynchus mykiss).

Environmental science &amp; technology
2025

Efficacy of spinal ultrasonography just before caudal epidural block for identifying tethered cord syndrome in urological cases with sacral dimples: a retrospective descriptive study.

Journal of anesthesia
2025

Retrograde cervical insertion of spinal cord stimulator in persistent spinal pain syndrome type 2 in patient with fusion from sacrum to T10.

Pain practice : the official journal of World Institute of Pain
2025

Altered functional connectivity and hyperactivity of the caudal hippocampus in schizophrenia compared with bipolar disorder: a resting state fMRI (functional magnetic resonance imaging) study.

BMC psychiatry
2025

Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.

International journal of molecular sciences
2025

A Case of Surgically Treated Adult Split Cord Malformation Type 2 with Tethered Cord Syndrome.

NMC case report journal
2025

The Impact of Hypoalbuminemia on Outcomes in Non-Surgically Treated Patients With Central Cord Injury.

Global spine journal
2025

Lesion network mapping of REM Sleep Behaviour Disorder.

NeuroImage. Clinical
2025

Potentially zoonotic parasite arrives to continental France: Clinostomum complanatum (Trematoda: Digenea) infection in perch (Perca fluviatilis) from the Doubs River (Jura).

Folia parasitologica
2025

A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.

Pediatric dermatology
2024

Ipsilateral Hemiparesis in Lateral Medullary Syndrome: A Case Report on Opalski's Syndrome.

Cureus
2025

Evaluation of the effects of asymmetric lumbosacral transitional vertebra on pelvic morphology in dogs using ventrodorsal radiographs.

Acta veterinaria Scandinavica
2025

Internal carotid artery dissection leading to occlusion in a patient with nonelongated styloid process: illustrative case.

Journal of neurosurgery. Case lessons
2025

Alternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.

Movement disorders clinical practice
2025

Acute and Subchronic Toxicity of 6PPD-Quinone to Early Life Stage Lake Trout (Salvelinus namaycush).

Environmental science &amp; technology
2025

Clinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.

Journal of the neurological sciences
2024

Neonatal caudal regression syndrome: Devil lies in details.

Medical journal, Armed Forces India
2025

Dorsolateral pontine lesions produce distinct ocular motor abnormalities with anatomical correlations.

European journal of neurology
2025

Selective midfacial neurectomy for postparalytic facial nerve syndrome.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2024

Sirenomelia-Challenges and Treatment Approach in a Rare Case.

Birth defects research
2024

A case of small intestinal fixation failure.

BJR case reports
2024

[Congenital porto-phrenico-pulmonary shunt in a cat].

Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
2024

Spontaneous Intracranial Hypotension and Dural Ectasia in Marfan Syndrome: An Illustrative Case Successfully Treated with Steroid Therapy and Literature Review.

Brain sciences
2025

Diagnosis and hybrid interventional and surgical removal of ectopic heartworms (Dirofilaria immitis) in a dog.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2024

Sternotomy and extracorporal circulation for fulminant Budd-Chiari syndrome due to leiomyosarcoma of the inferior vena cava.

Cardio-oncology (London, England)
2025

Repetitive muscle silent periods in acute post-anoxic brain injury: A novel phenotype of negative myoclonus.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

Mandibular Periostitis Ossificans in a 17-Week-Old Male Great Dane.

Journal of veterinary dentistry
2025

Ray-Resorption Syndrome in European Seabass, Dicentrarchus labrax (Linnaeus, 1758).

Journal of fish diseases
2024

Wall-Eyed Internuclear Ophthalmoplegia: History and Hypothesis.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2024

Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.

Therapeutic advances in rare disease
2024

Genome-wide screening reveals essential roles for HOX genes and imprinted genes during caudal neurogenesis of human embryonic stem cells.

Stem cell reports
2024

A new technique of primary retroperitoneal approach for minimally invasive surgical treatment of cecal colon cancer with d3 lymph node dissection.

Techniques in coloproctology
2025

Prenatal growth patterns of the upper jaw complex with implications for laryngeal echolocation in bats.

Journal of anatomy
2024

Pediatric regional anesthesia and acute pain management: State of the art.

Best practice &amp; research. Clinical anaesthesiology
2024

Analysis of Caudal Regression Syndrome: A Case Report From Bulgaria.

Cureus
2024

A Comparison of Analgesic Efficacy of Triamcinolone vs Magnesium Sulfate as Adjuvants in Caudal Block in Patients with Low Back Pain: A Double-Blind Randomized Controlled Trial.

Anesthesiology and pain medicine
2024

Caudal regression syndrome with incidental brain tumor in a woman: A case report.

Radiology case reports
2024

Resolvin D4 mitigates lipopolysaccharide-induced lung injury in mice.

Prostaglandins, leukotrienes, and essential fatty acids
2024

Altered Subcortical Brain Volume and Cortical Thickness Related to Insulin Resistance in Type 2 Diabetes Mellitus.

Brain and behavior
2025

Towards a neurodevelopmental model of bipolar disorder: a critical review of trait- and state-related functional neuroimaging in adolescents and young adults.

Molecular psychiatry
2025

Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2024

Non-functional alpha-cell hyperplasia with glucagon-producing NET: a case report.

Frontiers in endocrinology
2025

Optimizing sacral screw fixation in patients with caudal regression syndrome.

Spine deformity
2024

Evaluation of Peripheral Neuropathy in Rat Models of Metabolic Syndrome and Diabetes Mellitus.

Bulletin of experimental biology and medicine
2024

CASE-CONTROL STUDY OF THE FREQUENCY AND ETIOLOGY OF ATAXIA IN ASIATIC LIONS (PANTHERA LEO PERSICA) BETWEEN 2002 AND 2020.

Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians
2024

The impact of metabolic syndrome on the cerebral cortex: a Mendelian randomization study.

Cerebral cortex (New York, N.Y. : 1991)
2024

Laparoscopic resection for retroperitoneum ganglioneuroma with Supine hypotension syndrome.

Surgical case reports
2024

Necrolytic migratory erythema caused by pancreatic hyperglycemia with emphasis on therapeutic and prognosis: A case report.

World journal of clinical cases
2024

Persistent Cloaca and Cloacal Variants in Males: Qualitative Review of a Neglected Anomaly.

Journal of Indian Association of Pediatric Surgeons
2024

Median Arcuate Ligament Syndrome: A Case Report on a Rare Disease and Variant Hepatic Arterial Anatomy.

Cureus
2024

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

Cerebellum (London, England)
2024

Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2024

Identifying the genetic association between the cerebral cortex and fibromyalgia.

Cerebral cortex (New York, N.Y. : 1991)
2024

Pelvic congestion syndrome analysis through quantitative 2-dimensional phase-contrast MRI: a promising vision from an observational cohort study.

International journal of surgery (London, England)
2024

Caudal regression syndrome associated with obstructive genital tract anomaly.

BMJ case reports
2024

Use of an autologous pericardial patch to repair a post-traumatic caudal vena cava cicatrix in a dog.

Veterinary surgery : VS
2024

A Case of Endoscopic Partial Transverse Process and Sacral Alar Resection for Bertolotti's Syndrome and Continued Basketball Playing Two Years After Surgery.

Cureus
2024

Fibrodysplasia Ossificans Progressiva: A Man Turned to Stone.

Cureus
2024

Radiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.

Radiology case reports
2024

Short-term antipsychotic treatment reduces functional connectivity of the striatum in first-episode drug-naïve early-onset schizophrenia.

Schizophrenia research
2025

Double Trouble: A Case Report of Caudal Duplication Syndrome.

Urology
2024

Beyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome-A Triple Sibship.

Pediatric neurology
2024

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

Prenatal diagnosis
2024

Re: Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.

Journal of pediatric urology
2024

Deciphering the brain-gut axis: elucidating the link between cerebral cortex structures and functional gastrointestinal disorders via integrated Mendelian randomization.

Frontiers in neuroscience
2024

Caudal Regression Syndrome First Diagnosed in Adulthood: A Case Report and a Review of the Literature.

Diagnostics (Basel, Switzerland)
2024

Wrongful birth and wrongful life lawsuits in obstetrics and gynecology.

American journal of obstetrics and gynecology
2024

Targeting thalamocortical circuits for closed-loop stimulation in Lennox-Gastaut syndrome.

Brain communications
2024

Clinical and radiological evaluation of caudal regression syndrome.

Pediatric radiology
2024

Translation of paclitaxel-induced peripheral neurotoxicity from mice to patients: the importance of model selection.

Pain
2023

Comparative Evaluation of Caudal Epidural Method to Ultrasound-Guided S1 Transforamen Block in Patient's Lumbar Discectomy with Failed Back Syndrome Symptoms: A Double-Blind Clinical Trial.

Anesthesiology and pain medicine
2024

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.

Journal of medical case reports
2024

Mechanical Interactions Between the Upper Airway and the Lungs that Affect the Propensity to Obstructive Sleep Apnea in Health and Chronic Lung Disease.

Sleep medicine clinics
2024

Aberrant Dorsal Nerve Root as a Concomitant Cause of Spinal Cord Tethering Associated with a Dorsal Type Lipomyelomeningocele in a Child With Caudal Agenesis.

Nigerian journal of clinical practice
2024

Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.

Genes
2024

Paraneoplastic hypercalcemia in a canine patient with a mandibular salivary carcinoma.

Journal of the American Veterinary Medical Association
2024

Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.

BMC anesthesiology
2024

Non-brachycephalic dogs with stertor have higher nasopharyngeal collapsibility compared with dogs without stertor and foramen lacerum level is ideal for evaluating nasopharyngeal collapse on dynamic CT.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2025

Closure of the neuro-central synchondrosis and other physes in foal cervical spines.

Equine veterinary journal
2024

Caudal duplication syndrome: A rare entity.

JPMA. The Journal of the Pakistan Medical Association
2024

Reduced Cortical Thickness Correlates of Cognitive Dysfunction in Post-COVID-19 Condition: Insights from a Long-Term Follow-up.

AJNR. American journal of neuroradiology
2024

Laser-Assisted Turbinectomy in Dogs.

The Veterinary clinics of North America. Small animal practice
2024

Dexmedetomidine Alleviates Propofol Infusion Syndrome-Induced Myocardial Injury through Inhibiting Ferroptosis Associated with Accumulation of Reactive Oxygen Species.

Annals of clinical and laboratory science
2024

Synaptic mechanisms underlying the elevated sympathetic outflow in fructose-induced hypertension.

Frontiers in physiology
2024

Middle cluneal nerve entrapment sites in the surgical field.

Acta neurochirurgica
2024

Tethered Spinal Cord Syndrome Discovered during Ultrasound-guided Caudal Block.

Anesthesiology
2024

Nausea and Vomiting as Initial Manifestations of Pediatric NMOSD.

Pediatrics
2024

Management of essential tremor deep brain stimulation-induced side effects.

Frontiers in human neuroscience
2024

LUMBAR syndrome-OEIS complex overlap: A case series and review.

American journal of medical genetics. Part A
2024

Staging of progressive supranuclear palsy-Richardson syndrome using MRI brain charts for the human lifespan.

Brain communications
2024

Dural ectasia with cauda equina syndrome, a rare case report.

International journal of surgery case reports
2024

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.

Journal of pediatric urology
2024

Long-term outcomes in sacral agenesis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Imaging spectrum of spinal dysraphism: A diagnostic challenge.

SA journal of radiology
2024

Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.

Pediatric nephrology (Berlin, Germany)
2024

A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

The American journal of case reports
2024

The role of atypical deglutition in children and adolescents with moderate to severe obstructive sleep apnea syndrome.

Journal of sleep research
2024

Emphysematous pyometra and emphysematous hepatitis caused by Klebsiella pneumoniae infection in a diabetic dog.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2024

Risks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.

World neurosurgery
2024

Defective blastogenesis of postnatally diagnosed type VI sirenomelia in a young primigravida: A case report.

SAGE open medical case reports
2024

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

Journal of anatomy
2024

Exploring graded profiles of hippocampal atrophy along the anterior-posterior axis in semantic dementia and Alzheimer's disease.

Neurobiology of aging
2024

Adrenalectomy for the treatment of hypotension in a cat with phaeochromocytoma associated with caudal vena cava syndrome.

The Journal of small animal practice
2024

A rare case of fetal sirenomelia malformation in the third trimester with its ultrasound appearance and review of the literature.

International journal of surgery case reports
2024

Effect of age on metabolomic changes in a model of paclitaxel-induced peripheral neurotoxicity.

Journal of the peripheral nervous system : JPNS
2023

Median Arcuate Ligament and Origin of the Celiac Artery Proximity Change in Patients after Surgery to Correct Adult Spinal Deformity: Potential Risk Factors for Acute Celiac Artery Compression Syndrome.

Spine surgery and related research
2024

Successful surgical correction of caudal duplication syndrome in a dog.

Journal of the American Veterinary Medical Association
2023

Hyperbaric treatment deviations for U.S. Navy divers: Spinal DCS.

Undersea &amp; hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, Inc
2024

Retrograde thoracic spinal cord stimulation paddle placement for complex persistent spinal pain syndrome type 2.

Pain practice : the official journal of World Institute of Pain
2023

Sirenomelia in Twin Pregnancy: A Case Report.

Cureus
2023

Prenatal sirenomelia diagnosis in the first trimester: A case report and literature review.

Clinical case reports
2023

Caudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report.

Journal of medical case reports
2023

Association of Tarlov cyst with cauda equina syndrome and spinal cord infarction following caudal epidural block: A case report.

Medicine
2023

ROI-based analysis of diffusion indices in healthy subjects and subjects with deficit or non-deficit syndrome schizophrenia.

Psychiatry research. Neuroimaging
2023

Sacral agenesis without maternal diabetes: a case report.

Annals of medicine and surgery (2012)
2023

Simultaneous second-stage Fowler-Stephens Orchiopexy and microvascular testicular autotransplantation in a patient with prune belly syndrome with cryptorchidism.

Journal of surgical case reports
2024

Monocular Torsional Oscillopsia in Dentato-olivary Disconnection.

Cerebellum (London, England)
2023

Major complications of caudal block: A prospective survey of 973 cases in adult anorectal surgery.

Heliyon
2024

Millard-Gubler Syndrome due to Parenchymal Neuro-Behcet's Syndrome Lesion: a Rare Case Report.

Acta neurologica Taiwanica
2024

Clinico- Radiological Profile and Outcome of Isolated Paramedian Hemipontine Infarcts.

Acta neurologica Taiwanica
2024

Efficacy of epidural infiltration in the management of pain and disability due to acute and subacute lumbosacral radiculopathy.

Neurocirugia
2023

Surgical technique of spine-shortening vertebral osteotomy for adult tethered cord syndrome: a case report and review of the literature.

Journal of medical case reports
2023

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Cold Spring Harbor molecular case studies

Associações

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Comunidades

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Doenças relacionadas

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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.

  1. A rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.
    The Journal of veterinary medical science· 2026· PMID 41730640mais citado
  2. Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.
    BMJ case reports· 2026· PMID 41667200mais citado
  3. Sacral dimple: clinical perspectives of lesions hidden beneath the skin.
    Clinical and experimental pediatrics· 2026· PMID 41331294mais citado
  4. [Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].
    Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca· 2026· PMID 41873870mais citado
  5. Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
    Congenital anomalies· 2026· PMID 41871837mais citado
  6. A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.
    Pediatr Dermatol· 2025· PMID 39888106recente
  7. Ray-Resorption Syndrome in European Seabass, Dicentrarchus labrax (Linnaeus, 1758).
    J Fish Dis· 2025· PMID 39529399recente
  8. Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
    J Stroke Cerebrovasc Dis· 2024· PMID 39122055recente
  9. Pelvic congestion syndrome analysis through quantitative 2-dimensional phase-contrast MRI: a promising vision from an observational cohort study.
    Int J Surg· 2024· PMID 39093851recente
  10. Caudal regression syndrome associated with obstructive genital tract anomaly.
    BMJ Case Rep· 2024· PMID 39079904recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1123(Orphanet)
  2. MONDO:0015233(MONDO)
  3. GARD:1163(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785347(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 apêndice caudal-surdez

ORPHA:1123 · MONDO:0015233
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931593
Wikidata
Evidência
🥇 Rev. sistemática
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