A Síndrome de Hidrocefalia, Alta Estatura e Frouxidão Articular é uma síndrome com várias alterações presentes desde o nascimento, descrita em duas irmãs. Ela se caracteriza pela presença de hidrocefalia (acúmulo de líquido no cérebro) que começa na infância, estatura alta, frouxidão nas articulações e uma curvatura excessiva da coluna (cifose) na região torácica e lombar. Não houve mais descrições sobre a síndrome na literatura médica desde 1989.
Introdução
O que você precisa saber de cara
A Síndrome de Hidrocefalia, Alta Estatura e Frouxidão Articular é uma síndrome com várias alterações presentes desde o nascimento, descrita em duas irmãs. Ela se caracteriza pela presença de hidrocefalia (acúmulo de líquido no cérebro) que começa na infância, estatura alta, frouxidão nas articulações e uma curvatura excessiva da coluna (cifose) na região torácica e lombar. Não houve mais descrições sobre a síndrome na literatura médica desde 1989.
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
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 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 de hidrocefalia-estatura elevada-hipermobilidade articular
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Disease models & mechanismsBilateral floating knee injury in a child with down syndrome: A case report.
International journal of surgery case reportsThe spectrum of gastrointestinal functional bowel disorders in joint hypermobility syndrome and in an academic referral center.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchA narrative review of the literature on illness uncertainty in hypermobile ehlers-danlos syndrome: implications for research and clinical practice.
Pediatric rheumatology online journalImaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.
Global medical geneticsDiagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.
Annals of agricultural and environmental medicine : AAEMA recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
American journal of medical genetics. Part AAtlantoaxial Subluxation in a 10-Year-Old Girl With Down Syndrome: A Case Report.
CureusMultiple copy number variation in a patient with Kleefstra syndrome.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloClinical heterogeneity of polish patients with KAT6B-related disorder.
Molecular genetics & genomic medicineB3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
European journal of medical geneticsCUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
European journal of human genetics : EJHGDonor-Site Complication of Severe Valgus Ankle Deformity in an Adult With Ehlers-Danlos Syndrome Following Free Vascularized Fibular Grafting.
CureusAtypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.
Journal of clinical neuromuscular diseaseInjection Treatments for Vulvovaginal Atrophy of Menopause: A Systematic Review.
Aesthetic plastic surgeryMucoid degeneration of the anterior cruciate ligament corrected with autograft reconstruction.
BMJ case reportsApplicability of vaginal energy-based devices in urogynecology: evidence and controversy.
Revista da Associacao Medica Brasileira (1992)A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Current issues in molecular biologyCase report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Frontiers in geneticsOverstrain on the longitudinal band of the cruciform ligament during flexion in the setting of sandwich deformity at the craniovertebral junction: a finite element analysis.
The spine journal : official journal of the North American Spine SocietyArabic translation, cultural adaptation, and validation of the Bristol Impact of Hypermobility questionnaire.
Journal of patient-reported outcomesThe Impact of Rheumatoid Arthritis (RA) in Median Nerve Area in the Wrist Joint: A Case-Control Study.
CureusSkin Laxity Improvement With Microfocused Ultrasound in Classic Ehlers-Danlos Syndrome: A New Treatment Approach.
Actas dermo-sifiliograficasGood stability and mid-term subjective outcomes after repeated anterior cruciate ligament (ACL) revision surgery using allografts.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKASurgical Management of Pterygium Colli with Significant Skin Laxity: A Case Report.
BiomedicinesHypermobile Patients With Femoroacetabular Impingement Syndrome Can Be Effectively Treated Utilizing Hip Arthroscopy With Periportal Capsulotomy Closure: A Matched Cohort Analysis Compared to Patients Without Joint Hypermobility.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationCollagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease.
Frontiers in cell and developmental biologyRelationship between Locomotive Syndrome and Musculoskeletal Pain and Generalized Joint Laxity in Young Chinese Adults.
Healthcare (Basel, Switzerland)Developmental Foot Deformities in Patients with Connective Tissue Disorders.
JBJS reviewsA gynecological perspective of interstitial cystitis/bladder pain syndrome may offer cure in selected cases.
Central European journal of urologyDe novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report.
Experimental and therapeutic medicinePostoperative regular use of a self-rehabilitation mobile application for more than two weeks reduces extension deficit and cyclop syndrome after anterior cruciate ligament reconstruction.
Journal of experimental orthopaedicsSelective Myectomy and Myotomy In Situ for the Management of Refractory Blepharospasm in Meige Syndrome.
Annals of plastic surgeryDe Barsy Syndrome: A Case Report of a Rare Genetic Disorder.
CureusInitial Outcomes Using Cryoablation in Surgical Management of Slipping Rib Syndrome.
Journal of pediatric surgeryA 20-Year Retrospective Study of Children and Adolescents Treated by the Three-in-One Procedure for Patellar Realignment.
Journal of clinical medicineNew genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report.
Frontiers in pediatricsSiblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.
American journal of medical genetics. Part AObsructive sleep apnea syndrome: is it a risk factor for ocular surface disease and ocular comorbidities?
International ophthalmology[Controversy of subtalar arthroereisis in symptomatic flatfoot].
Zhongguo gu shang = China journal of orthopaedics and traumatologyFloppy Eyelid Syndrome: an Overlooked Comorbidity Among Bariatric Patients.
Obesity surgeryHyaluronic Acid and Radiofrequency in Patients with Urogenital Atrophy and Vaginal Laxity.
Pharmaceuticals (Basel, Switzerland)Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.
GenesA Forme Fruste of Marfan Syndrome: A Case Report.
CureusMicro-Focused Ultrasound Therapy in Patients with Urogenital Atrophy and Vaginal Laxity.
Journal of clinical medicineTreatment of obstructive sleep apnea with hypoglossal nerve stimulation in a patient with Ehlers-Danlos syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineVariant connective tissue (joint hypermobility) and its relevance to depression and anxiety in adolescents: a cohort-based case-control study.
BMJ openProximal tibiofibular joint (PTFJ) dislocation due to Ehlers-Danlos syndrome: posterolateral open-wedge high tibial osteotomy combined with medial closed-wedge distal femoral osteotomy can correct the severe valgus deformity with a markedly increased tibial posterior slope.
BMJ case reportsAssociation between obstructive sleep apnea and floppy eyelid syndrome: A systematic review and metaanalysis.
Survey of ophthalmologyUrinary Incontinence in Elite Female Athletes.
Current urology reportsCongenital eyelid imbrication syndrome in a Hispanic newborn: case report and review of the literature.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusHow did intraoperative neuromonitorization prevent tetraplegia?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.
Radiology case reportsAutonomic nerve regulation in joint hypermobility patients with myofascial trigger points by Musculoskeletal Interfiber Counterirritant Stimulation (MICS).
Medical engineering & physicsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular.
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Comunidades
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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.
- Distinct Phenotypes of Full-Thickness Rectal Prolapse in Women: A Comparison of Defecation-Only and Spontaneous Presentations.
- Neural processes linking joint hypermobility and anxiety: key roles for the amygdala and insular cortex.
- Management of Pregnancy-related Hand and Upper-extremity Conditions and Trauma: Pain Control, Anesthesia, and Other Perioperative Considerations.
- High prevalence of generalized ligamentous laxity in patellar dislocation with posterior weight-bearing lateral femoral condyle osteochondral fractures: an observational study and treatment outcomes.
- First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.
- Clinical Outcomes and Measures for Vaginal Relaxation Syndrome: A Systematic Review.
- Clinical relevance of transperineal ultrasound compared with anorectal manometry for the evaluation of female patients with obstructive defecation syndrome.
- Is obstructive sleep apnea syndrome a risk factor for floppy eyelid syndrome? A multicenter study.
- Clinical Staging of Prostaglandin-Associated Periorbitopathy Syndrome in Glaucoma: A Review from Asia.
- Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2181(Orphanet)
- OMIM OMIM:236660(OMIM)
- MONDO:0009363(MONDO)
- GARD:1666(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781947(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