Raras
Buscar doenças, sintomas, genes...
Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular
ORPHA:2181CID-10 · Q87.8OMIM 236660DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

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
Infancy
🏥
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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🦴
Ossos e articulações
9 sintomas
😀
Face
1 sintomas
🫃
Digestivo
1 sintomas
🧠
Neurológico
1 sintomas
❤️
Coração
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Estatura alta desproporcional
Muito frequente (99-80%)
90%prev.
Polegar aduzido
Muito frequente (99-80%)
90%prev.
Alta estatura
Muito frequente (99-80%)
90%prev.
Hipermobilidade articular
Muito frequente (99-80%)
90%prev.
Cifose
Muito frequente (99-80%)
90%prev.
Aracnodactilia
Muito frequente (99-80%)
18sintomas
Muito frequente (7)
Frequente (8)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.

Estatura alta desproporcionalDisproportionate tall stature
Muito frequente (99-80%)90%
Polegar aduzidoAdducted thumb
Muito frequente (99-80%)90%
Alta estaturaTall stature
Muito frequente (99-80%)90%
Hipermobilidade articularJoint hypermobility
Muito frequente (99-80%)90%
CifoseKyphosis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa4
Últimos 10 anos200publicações
Pico202463 papers
Linha do tempo
2022Hoje · 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 hidrocefalia-estatura elevada-hipermobilidade articular

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Distinct Phenotypes of Full-Thickness Rectal Prolapse in Women: A Comparison of Defecation-Only and Spontaneous Presentations.

Neurogastroenterology and motility2026 Feb

While some patients report full thickness rectal prolapse (RP) exclusively during defecation, others may experience it spontaneously during walking, exercise, and/or all the time. We hypothesized that patients with RP only during defecation have more preserved physiological and anatomical characteristics and aimed to identify the phenotypes of patients with various RP expression. A retrospective analysis of a prospectively maintained registry of women with RP (2017-2023) included clinical characteristics, MRI defecography (MRD), and high-resolution anorectal manometry (HR-ARM). Of 297 patients, 147 (49%) experienced defecation-only RP, while 150 (51%) had spontaneous RP. The defecation-only RP group was younger (p < 0.001) and exhibited higher obstructive defecation syndrome (ODS) scores (p < 0.001), associated with higher rectal pressures at simulated defecation. The spontaneous RP patients had higher Wexner fecal incontinence scores (p < 0.001) and were more likely to seek medical care within 6 months of symptom onset (p = 0.006). On MRD, they had larger levator hiatus length, width, and bowl volume along with a wider anorectal angle. HR-ARM showed lower resting anal pressures (p = 0.03) and less sustained squeeze pressures (p = 0.04) in this group. Defecation-only RP appears to represent a distinct phenotype, potentially an early stage of RP, characterized by younger age, more severe obstructive symptoms, more preserved anal sphincter function, and less pelvic floor laxity. Future research should focus on risk factors for progression to more sustained RP and the potential benefits of early intervention in patients with defecation-only RP.

#2

Neural processes linking joint hypermobility and anxiety: key roles for the amygdala and insular cortex.

The British journal of psychiatry : the journal of mental science2026 Feb

Anxiety symptoms are elevated among people with joint hypermobility. The underlying neural mechanisms are attributed theoretically to effects of variant connective tissue on the precision of interoceptive representations contributing to emotions. To investigate the neural correlates of anxiety and hypermobility using functional neuroimaging. We used functional magnetic resonance neuroimaging to quantify regional brain responses to emotional stimuli (facial expressions) in people with generalised anxiety disorder (GAD) (N = 30) and a non-anxious comparison group (N = 33). All participants were assessed for joint laxity and were classified (using Brighton Criteria) for the presence and absence of hypermobility syndrome (HMS: now considered hypermobility spectrum disorder). Participants with HMS showed attenuated neural reactivity to emotional faces in specific frontal (inferior frontal gyrus, pre-supplementary motor area), midline (anterior mid and posterior cingulate cortices) and parietal (precuneus and supramarginal gyrus) regions. Notably, interaction between HMS and anxiety was expressed in reactivity of the left amygdala (a region implicated in threat processing) and mid insula (primary interoceptive cortex) where activity was amplified in people with HMS with GAD. Severity of hypermobility in anxious, compared with non-anxious, individuals correlated with activity within the anterior insula (implicated as the neural substrate linking anxious feelings to physiological state). Amygdala-precuneus functional connectivity was stronger in participants with HMS, compared with non-HMS participants. The predisposition to anxiety in people with variant connective tissue reflects dynamic interactions between neural centres processing threat (amygdala) and representing bodily state (insular and parietal cortices). Correspondingly, interventions to regulate amygdala reactivity while enhancing interoceptive precision may have therapeutic benefit for symptomatic hypermobile individuals.

#3

Management of Pregnancy-related Hand and Upper-extremity Conditions and Trauma: Pain Control, Anesthesia, and Other Perioperative Considerations.

The Orthopedic clinics of North America2026 Apr

Upper-extremity conditions, including carpal tunnel syndrome, de Quarvians disease, trigger finger, and joint laxity, are common during pregnancy and are related to hormonal fluctuations and fluid shifts. These conditions generally respond well to conservative management with medications, bracing, and corticosteroid injection. However, surgery should be offered during pregnancy if nonoperative treatment fails. Regional and local anesthesia decreases fetal anesthetic exposure, minimizes airway issues, and assists postoperative pain control. Pregnant patients with trauma should be evaluated for extremity injury, and appropriate imaging should be obtained while minimizing pelvic radiation exposure. Surgical management should include fixation techniques with minimal radiation exposure.

#4

High prevalence of generalized ligamentous laxity in patellar dislocation with posterior weight-bearing lateral femoral condyle osteochondral fractures: an observational study and treatment outcomes.

Journal of orthopaedic surgery and research2026 Mar 18

To investigate the high incidence of multiple ligament laxity signs in a highly selected cohort of patients with patellar dislocation complicated by osteochondral fractures in the posterior weight-bearing zone of the femoral condyle, evaluate the therapeutic efficacy of absorbable cartilage pins, and further analyze the causes of such injuries. A retrospective review was performed using clinical data from 40 patients with patellar dislocation complicated by osteochondral fractures involving the posterior weight-bearing zone of the lateral femoral condyle who were admitted to the Second Hospital of Lanzhou University between January 2021 and August 2024. Demographic and clinical characteristics (age, sex, osteochondral fracture size, affected side, and follow-up duration) as well as baseline anatomical parameters, including patellar height (Caton-Deschamps index), tibial tubercle-trochlear groove (TT-TG) distance, and femoral anteversion angle, were recorded. Systemic ligamentous laxity was evaluated preoperatively using the Beighton score, and a Beighton score ≥ 4 was used to define multiple ligament laxity. Patellar tilt (PT) and patellar shift (PS) were measured on magnetic resonance imaging (MRI), whereas TT-TG was primarily assessed on computed tomography (CT), supplemented by MRI when necessary. All patients underwent osteochondral fragment reduction and fixation using absorbable cartilage pins in conjunction with medial patellofemoral ligament (MPFL) reconstruction.The prevalence of multiple ligament laxity in this cohort was described using a one-sample proportion test (exact binomial test) with literature-reported proportions as reference. The primary outcome was the Lysholm score at the final follow-up. A multivariable linear regression model was constructed with adjustment for baseline Lysholm score, age, sex, follow-up duration, and preoperative TT-TG distance. In addition, paired-sample t-tests were used to compare clinical outcomes (range of motion [ROM], Lysholm, International Knee Documentation Committee [IKDC], Tegner, and visual analog scale [VAS]) and radiological parameters (PT, PS, and TT-TG) between the preoperative assessment and the final follow-up. The clinical efficacy and postoperative complications associated with the combined absorbable cartilage pin fixation and MPFL reconstruction were subsequently evaluated. All 40 patients completed follow-up (9-24 months; mean, 14.18 ± 4.9 months). All incisions healed primarily, and no predefined complications were observed. Follow-up imaging demonstrated fracture-site healing and stable fixation in all cases. Multiple ligament laxity (Beighton score ≥ 4) was present in 38 of 40 patients (95.0%); compared with literature-reported prevalence (approximately 20-30%), a one-sample exact binomial test showed a statistically higher proportion (P < 0.001), which should be interpreted as an enriched prevalence in this selected cohort. In multivariable linear regression, the Lysholm score at final follow-up was independently associated with baseline Lysholm score (β = 0.984, 95% CI 0.798-1.170; P < 0.001), whereas age, sex, follow-up duration, and preoperative TT-TG were not significant predictors (all P > 0.05). Significant improvements were observed from preoperative assessment to final follow-up in radiological parameters-PT (12.4 ± 2.5 vs. 5.7 ± 1.2), PS (9.7 ± 1.2 vs. 1.3 ± 0.5), and TT-TG (18.1 ± 2.3 vs. 14.6 ± 1.6)-and in clinical outcomes, including ROM (112.7 ± 5.3 vs. 128.4 ± 1.9), Lysholm (51.9 ± 2.6 vs. 82.7 ± 3.1), IKDC (43.1 ± 13.2 vs. 83.8 ± 6.8), Tegner (4.1 ± 1.2 vs. 5.9 ± 1.6), and VAS (7.23 ± 1.3 vs. 1.97 ± 0.62) (all P < 0.001). In the selective cohort of "patellar dislocation with concomitant osteochondral lesions in the posterior weight-bearing zone of the lateral femoral condyle" included in this study, multiple ligament laxity signs exhibited a high incidence rate. Although the current study design precludes exploration of the underlying mechanisms, the coexistence of ligament laxity with baseline anatomical features supports a plausible hypothesis: patients with multiple ligament laxity syndrome may exhibit altered patellofemoral kinematics and energy transfer pathways under dynamic loading. And early surgical intervention involving reduction and fixation with resorbable cartilage pins combined with medial patellofemoral ligament (MPFL) reconstruction may represent a reliable and feasible treatment strategy.

#5

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Journal of surgical case reports2026 Mar

3M syndrome is a rarely inherited autosomal recessive disorder caused by mutations in cullin-7 (CUL7), obscurin-like 1 (OBSL1), and coiled-coil domain containing protein 8 (CCDC8). It is associated with multiple dysmorphic features, including characteristic facial dysmorphism (a face that is triangular, full lips, frontal bossing, a nasal tip that is fleshy, long philtrum, protruding ears and macrocephaly), severe growth retardation prenatally and postnatally and normal intelligence. Although there are multiple skeletal manifestations of the syndrome, such as joint laxity, there is no mention of developmental dysplasia of the hip (DDH) to be associated with it anywhere in the literature. Therefore, we present the first case of bilateral DDH in a patient with 3M syndrome, which was managed similarly to other DDH cases with operative reduction, pelvic osteotomies, and femoral shortening, with a satisfactory outcome after 3 years of follow-up.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 197

2026

Management of Pregnancy-related Hand and Upper-extremity Conditions and Trauma: Pain Control, Anesthesia, and Other Perioperative Considerations.

The Orthopedic clinics of North America
2026

High prevalence of generalized ligamentous laxity in patellar dislocation with posterior weight-bearing lateral femoral condyle osteochondral fractures: an observational study and treatment outcomes.

Journal of orthopaedic surgery and research
2026

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Journal of surgical case reports
2026

Spontaneous Onset of Postoperative Chilaiditi Syndrome: A Case Report and Its Potential Other Association?

Journal of medical cases
2026

A Rare Case of Secondary Angle Closure Glaucoma Due to Soemmering's Ring in a Pseudophakic Eye: The Role of Ultrasound Biomicroscopy.

Cureus
2026

A scoping review of the impact of transverse carpal ligament sectioning on the thumb carpometacarpal joint: Does it increase the risk of ostearthritis?

JPRAS open
2026

Primary hypertrophic osteoarthropathy presenting with ptosis and floppy eyelids: a review of ophthalmic manifestations, histopathology, and pathophysiology.

Orbit (Amsterdam, Netherlands)
2026

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

EBioMedicine
2026

Distinct Phenotypes of Full-Thickness Rectal Prolapse in Women: A Comparison of Defecation-Only and Spontaneous Presentations.

Neurogastroenterology and motility
2026

Idiopathic Localized Acquired Cutis Laxa in an Adult Male: A Case Report.

Cureus
2026

Managing the meniscus Part 2: Traumatic tear patterns, biologic augmentation, transplantation, innovation and future research.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2026

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Genes
2026

Isolated medial meniscus allograft transplant intraoperatively restores anteroposterior knee stability as effectively as isolated anterior cruciate ligament reconstruction.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2026

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

The Journal of dermatology
2026

A typical canine Ehlers-Danlos-like syndrome without collagen abnormalities: a suspected case of Tenascin-X deficiency.

BMC veterinary research
2026

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

Journal of orthopaedic case reports
2025

Hip Microinstability: Current Concepts in Diagnosis, Surgical Management, and Outcomes A Narrative Review.

Open access journal of sports medicine
2026

Ophthalmic manifestations associated with eyelid hyperlaxity in Indian subcontinent.

European journal of ophthalmology
2026

Ascher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.

Orbit (Amsterdam, Netherlands)
2025

O06 Complete spontaneous resolution of NRAS-mosaic multiple congenital melanocytic naevi: proof of principle for therapeutic mole reversal.

The British journal of dermatology
2025

Arytenoid dislocation in a patient with Marfan syndrome after undergoing aortic arch surgery.

BMJ case reports
2025

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Cureus
2025

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
2025

Orthopedics in Pregnancy: Exploring Challenges and Solutions.

Journal of pharmacy &amp; bioallied sciences
2025

Non-traumatic Atlantoaxial Subluxation Following Pharyngitis in Healthy Children: A Case Series.

Cureus
2025

Extraocular Manifestations of Obstructive Sleep Apnea as a Potential Screening Tool for Perioperative Complications: A Case Control Study.

Obesity surgery
2025

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Journal of biomolecular structure &amp; dynamics
2025

Lax Medial Patellofemoral Ligament Syndrome as a Cause of Recurrent Patellar Instability: A Radiologic Case Series.

Journal of orthopaedic case reports
2025

Patient-reported outcomes and measures for vaginal relaxation syndrome management: a systematic review.

Health and quality of life outcomes
2025

Comprehensive Management of Pediatric Ascher Syndrome: A Case Report and Literature Review.

Plastic and reconstructive surgery. Global open
2025

Exploring the Association Between Median Arcuate Ligament Syndrome and Hypermobile Ehlers-Danlos Syndrome: A Case Report.

Cureus
2025

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.

Genes
2026

Evaluation and Management of Knee Dislocations.

The Journal of the American Academy of Orthopaedic Surgeons
2025

Long-term Clinical Outcomes After Single- Versus Double-Bundle ACL Reconstruction: A Matched-Pair Analysis From the SANTI Study Group.

Orthopaedic journal of sports medicine
2025

Post-procedural infection risk following laser vaginal rejuvenation: clinical experience from a single center.

Germs
2025

A Case of Atlanto-Axial Rotatory Fixation Requiring Internal Fixation.

Journal of orthopaedic case reports
2026

Clinical Outcomes and Measures for Vaginal Relaxation Syndrome: A Systematic Review.

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research
2026

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

Molecular syndromology
2026

Photochemical Crosslinking of Upper Eyelid Tarsus Using Rose Bengal and Green Light.

Ophthalmic plastic and reconstructive surgery
2025

Effects of total urethral suspension combined with posterior pelvic floor reconstruction on sexual function in women with stress urinary incontinence and concomitant vaginal laxity syndrome.

Frontiers in surgery
2025

Risk factors of patellofemoral instability in patients with hypermobile Ehlers-Danlos syndrome.

Archives of orthopaedic and trauma surgery
2025

Association Between Native Hip Distraction and Preoperative Patient-Reported Outcomes in Nondysplastic Female Patients Undergoing Primary Hip Arthroscopy.

The American journal of sports medicine
2025

Survival of anterior cruciate ligament  reconstruction in patients with Ehlers-Danlos syndrome: A comparison with anatomic risk factors in existing literature.

International orthopaedics
2025

Clinical relevance of transperineal ultrasound compared with anorectal manometry for the evaluation of female patients with obstructive defecation syndrome.

BMC gastroenterology
2025

Arterial tortuosity syndrome.

BMJ case reports
2025

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Archives of Iranian medicine
2025

A challenging diagnosis in a Down syndrome child presenting with hemiparesis: atlantoaxial subluxation.

Sudanese journal of paediatrics
2025

Double-Allograft Shoulder Stabilization for Multidirectional Instability Is Associated With Improved Function and Survivability After 2 Years.

Arthroscopy, sports medicine, and rehabilitation
2025

Hyaluronic Acid Combined with Diluted and Hyperdiluted Calcium Hydroxylapatite to Treat the Periocular Area.

Clinical, cosmetic and investigational dermatology
2025

Soft Tissue Stabilization of Midcarpal Instability in Ehlers-Danlos Patients Using a Cadaveric Tendon Graft.

Plastic and reconstructive surgery. Global open
2025

[Chilaiditi's syndrome-A rare anatomical variant of the colon].

Chirurgie (Heidelberg, Germany)
2025

Effect of modified mobilization with movement and motor learning on volleyball females players with shoulder impingement syndrome.

Journal of education and health promotion
2026

Understanding the issues of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome in primary care: a qualitative integrative review.

Disability and rehabilitation
2026

The utility of the implantable loop recorder in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorder.

Journal of osteopathic medicine
2025

Hip Microinstability: New Concepts and Comprehensive Imaging Evaluation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2025

Alterations of the hip total joint moment occur during walking in individuals with Marfan syndrome.

Clinical biomechanics (Bristol, Avon)
2025

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

BMC urology
2025

Outcomes after Surgical Management of Large Joint Manifestations in Ehlers Danlos Syndrome and Hypermobility Conditions in Sports Medicine: a Systematic Review.

Current reviews in musculoskeletal medicine
2025

Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

Taiwanese journal of obstetrics &amp; gynecology
2026

Changes in Distal Radioulnar Joint Stability With Metaphyseal Versus Diaphyseal Ulnar Shortening Osteotomies: A Biomechanical Investigation.

The Journal of hand surgery
2025

Treatment Experience With Midfacial Distraction Osteogenesis for Down Syndrome.

The Journal of craniofacial surgery
2025

The Contradictions in the Criteria for Diagnosing Hypermobile Ehlers-Danlos Syndrome as Reflecting Some of the Philosophical Debates about the Threshold between the Normal and the Pathological.

The Journal of medicine and philosophy
2026

Integral Theory Paradigm: Common Pelvic Ligament Pathogenesis Guides Management for Urology, Gynecology, Coloproctology.

Urologia internationalis
2025

Treatment of Chronic Pain Due to Slipping Rib Syndrome Using Ultrasound-Guided Intercostal Cryoneurolysis: A Case Report.

Case reports in anesthesiology
2025

Profile of Musculoskeletal Anomalies in Indian Children with Down Syndrome.

Indian pediatrics
2025

Congenital cervical lung herniation in an infant with arterial tortuosity syndrome.

Respiratory medicine case reports
2025

Pearl-type posterior capsule opacification as a possible predisposing factor for malignant glaucoma: a case report.

BMC ophthalmology
2025

Body weight is associated with the ability to perform deep squats in school-aged Japanese children and adolescents: A retrospective cohort study.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2025

Pediatric Rupture of Hallux Interphalangeal Joint Lateral Collateral Ligament.

Journal of the American Academy of Orthopaedic Surgeons. Global research &amp; reviews
2026

Neural processes linking joint hypermobility and anxiety: key roles for the amygdala and insular cortex.

The British journal of psychiatry : the journal of mental science
2025

Anterior chamber morphological and refractive outcomes following phacoemulsification in pseudoexfoliative eyes: A case-control study.

European journal of ophthalmology
2025

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.

Case reports in genetics
2025

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Clinical genetics
2024

Trends in surgical procedures for shoulder instability among patients with Ehlers-Danlos syndrome or joint hypermobility syndrome.

JSES international
2024

Anatomic and Functional Reconstruction of the Abdominal Wall in Prune Belly Syndrome: A Case Report.

Cureus
2026

Is obstructive sleep apnea syndrome a risk factor for floppy eyelid syndrome? A multicenter study.

Cranio : the journal of craniomandibular practice
2025

[Acupuncture based on "status-target coherence" theory combined with Kegel exercises for vaginal laxity syndrome: a randomized controlled trial].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

No Difference in 2-Year Outcomes for Non-Hypermobile Femoroacetabular Impingement Syndrome Patients Undergoing Hip Arthroscopy With and Without Closure of Periportal Capsulotomy.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2024

Significant differences in knee kinematics of healthy subjects with high and low anterior tibial laxity.

Frontiers in bioengineering and biotechnology
2025

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Clinical genetics
2024

Wandering Liver: A Case Report With Clinical and Radiological Insights.

Cureus
2024

Hippotherapy in the management of hypermobile Ehlers-Danlos syndrome.

BMJ case reports
2024

Outcomes of open reduction for hip dislocations in children with connective tissue disorders.

Journal of children's orthopaedics
2024

Surgical management of glenohumeral instability in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorder and their risk of reoperation.

JSES reviews, reports, and techniques
2025

Incidence of hip problems in developmental central hypotonia: A scoping review.

Developmental medicine and child neurology
2024

Spectrum of Heterotopic and Ectopic Splenic Conditions.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

Adult Hip Manifestations in Klippel-Trenaunay Syndrome.

Journal of orthopaedic case reports
2025

Myopia and systemic manifestation of tissue hyperlaxity: A population-based cross-sectional study.

Clinical &amp; experimental ophthalmology
2024

Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.

The Journal of cell biology
2024

Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study.

JMIR formative research
2024

The Factors Impacting on Patient-Reported Outcomes After Bicruciate-Stabilized Total Knee Arthroplasty for Varus Knee Osteoarthritis.

Indian journal of orthopaedics
2024

Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study.

Orphanet journal of rare diseases
2024

A case of heavy-chain deposition disease with good long-term renal survival and a literature review.

BMC nephrology
2024

The Overlooked Floppy Eyelid Syndrome: From Diagnosis to Medical and Surgical Management.

Diagnostics (Basel, Switzerland)
2025

Imaging evaluation of hip capsule disorders: a comprehensive review.

Skeletal radiology
2024

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome.

Frontiers in neurology
2024

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report.

The application of clinical genetics
2024

A rare sight: Childhood blepharochalasis presenting as recurrent eyelid swelling: A case report.

International journal of surgery case reports
2024

Functions and Effectiveness of Unloader, Patellofemoral, and Knee Sleeve Orthoses: A Review.

Regenerative engineering and translational medicine
2024

A Critical Examination of Ligamentous Pathogenesis of Bladder Pain/Lower Urinary Tract Symptoms Using the UEDA Criteria.

International neurourology journal
2024

Congenital eyelid imbrication syndrome: A rare occurrence in Pakistan.

JPMA. The Journal of the Pakistan Medical Association
2024

Biomechanical and biological factors of sexual dimorphism in anterior knee pain: Current concepts.

Journal of ISAKOS : joint disorders &amp; orthopaedic sports medicine
2024

Small tuck for superior oblique palsy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

Atlantoaxial dislocation due to Os odontoideum in down syndrome: Literature review and case reports.

International journal of surgery case reports
2024

Looking beyond in Sleep Medicine Practice: Effect of OSA Management in Floppy Eyelid Syndrome - A Case Report.

Sleep science (Sao Paulo, Brazil)
2024

Clinical Staging of Prostaglandin-Associated Periorbitopathy Syndrome in Glaucoma: A Review from Asia.

Seminars in ophthalmology
2024

Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.

BMJ case reports
2024

European Board and College of Obstetrics and Gynaecology (EBCOG) position statement on the use of laser vaginal devices for treatment of genitourinary syndrome of menopause, vaginal laxity, pelvic organ prolapse and stress urinary incontinence.

European journal of obstetrics, gynecology, and reproductive biology
2024

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

American journal of medical genetics. Part A
2024

The relationship between joint hypermobility and patellar instability: A systematic review.

Journal of orthopaedics
2024

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.

Ophthalmology. Retina
2024

Evaluating the Effectiveness of Radiofrequency Therapy and Manual Pelvic Fascial Release in Treating Myofascial Pelvic Pain.

International urogynecology journal
2024

Pubourethral and uterosacral male analogues suggest parallel male/female pelvic anatomy and symptom pathogenesis.

Annals of translational medicine
2024

A brief physiology and pathophysiology of the anorectum based on the Integral Theory paradigm.

Annals of translational medicine
2024

Interstitial cystitis/bladder pain syndrome: when part of the posterior fornix syndrome is potentially curable surgically.

Annals of translational medicine
2024

Chronic pelvic pain of "unknown origin" in the female.

Annals of translational medicine
2024

Correlation between benign joint hypermobility syndrome and headache in children and adolescents.

BMC musculoskeletal disorders
2024

Temporomandibular joint and cervical spine disability assessment in people with hypermobility joint syndrome.

Dental and medical problems
2024

Combined Double-breasted Full-thickness Abdominal Flap Plication and Acellular Dermal Matrix in Prune-belly Syndrome Reconstruction.

Plastic and reconstructive surgery. Global open
2024

Imaging Assessment of Nontraumatic Pathologic Conditions at the Craniovertebral Junction: A Comprehensive Review.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

A Comprehensive Case Study of a Hyperlaxity Dilemma: An Injury-Prone Young Athlete.

Cureus
2024

Novel minimally invasive abdominoplasty for selected cases of prune belly syndrome: Step-by-step technique description and clinical indications.

Journal of pediatric urology
2024

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

Molecular biology reports
2024

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Current issues in molecular biology
2024

VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.

Neuropediatrics
2024

Chilaiditi's Syndrome Mimicking Crohn's.

Cureus
2024

Heavy Menstrual Bleeding in Adolescents with Joint Hypermobility Syndrome/Hypermobile-Type Ehlers-Danlos: A Review.

Pediatric annals
2024

Ulnar-Sided Wrist Pain: A Diagnostic Evaluation Guide From 30-Plus Years of Experience.

Cureus
2024

Integrative medicine for hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS): a feasibility study.

Disability and rehabilitation
2024

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

American journal of medical genetics. Part A
2024

Impact of chronic wrist hypermobility on proprioception, strength, and functional performance in young adults.

Journal of hand therapy : official journal of the American Society of Hand Therapists
2024

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.

Ophthalmic genetics
2024

Late-Onset Capsular Block Syndrome with Pupillary Block Angle Closure after Cataract Surgery with Posterior Chamber Intraocular Lens Implantation: A Case Report.

Case reports in ophthalmology
2024

Efficacy and safety of a device that combines multipolar radiofrequency with pulsed electromagnetic field for the treatment of vulvovaginal atrophy: a randomized, sham-controlled trial.

The journal of sexual medicine
2024

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Endocrine, metabolic &amp; immune disorders drug targets
2023

Relationship and New Prospectives in Joint Hypermobility in Children with Autism Spectrum Disorder: Preliminary Data.

Journal of personalized medicine
2024

Relationship Between Psychological Trauma and Irritable Bowel Syndrome and Functional Dyspepsia in a Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Patient Population.

Digestive diseases and sciences
2024

Proximal Tibial Recurvatum-Valgus: Analysis and Treatment.

The Journal of the American Academy of Orthopaedic Surgeons
2023

Transcutaneous Temperature Controlled Radiofrequency: Groundbreaking Technology - Female Stress Urinary Incontinence and Overactive Bladder Can Be Treated Noninvasively and with Vulvovaginal Rejuvenation?

Journal of mid-life health
2023

Comparison of Low-Energy Radiofrequency Thermal Vaginal Therapy with Sham Treatment for Stress Urinary Incontinence in Postmenopausal Women: A Randomized Controlled Trial.

International journal of women's health
2023

Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Collagen V haploinsufficiency in female murine patellar tendons results in altered matrix engagement and cellular density, demonstrating decreased healing.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society
2024

Ehlers-Danlos Syndrome is Associated with Increased Rates of Adjacent Segment Disease Following TLIF: A Propensity Matched Study.

World neurosurgery
2023

Genetic background determines severity of Loxl1-mediated systemic and ocular elastosis in mice.

Disease models &amp; mechanisms
2023

Bilateral floating knee injury in a child with down syndrome: A case report.

International journal of surgery case reports
2024

The 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 Research
2023

A narrative review of the literature on illness uncertainty in hypermobile ehlers-danlos syndrome: implications for research and clinical practice.

Pediatric rheumatology online journal
2023

Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.

Global medical genetics
2023

Diagnostic 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 : AAEM
2024

A 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 A
2023

Atlantoaxial Subluxation in a 10-Year-Old Girl With Down Syndrome: A Case Report.

Cureus
2023

Multiple copy number variation in a patient with Kleefstra syndrome.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2023

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Molecular genetics &amp; genomic medicine
2023

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.

European journal of medical genetics
2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

European journal of human genetics : EJHG
2023

Donor-Site Complication of Severe Valgus Ankle Deformity in an Adult With Ehlers-Danlos Syndrome Following Free Vascularized Fibular Grafting.

Cureus
2023

Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.

Journal of clinical neuromuscular disease
2023

Injection Treatments for Vulvovaginal Atrophy of Menopause: A Systematic Review.

Aesthetic plastic surgery
2023

Mucoid degeneration of the anterior cruciate ligament corrected with autograft reconstruction.

BMJ case reports
2023

Applicability of vaginal energy-based devices in urogynecology: evidence and controversy.

Revista da Associacao Medica Brasileira (1992)
2023

A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.

Current issues in molecular biology
2023

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Frontiers in genetics
2023

Overstrain 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 Society
2023

Arabic translation, cultural adaptation, and validation of the Bristol Impact of Hypermobility questionnaire.

Journal of patient-reported outcomes
2023

The Impact of Rheumatoid Arthritis (RA) in Median Nerve Area in the Wrist Joint: A Case-Control Study.

Cureus
2024

Skin Laxity Improvement With Microfocused Ultrasound in Classic Ehlers-Danlos Syndrome: A New Treatment Approach.

Actas dermo-sifiliograficas
2023

Good 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 ESSKA
2023

Surgical Management of Pterygium Colli with Significant Skin Laxity: A Case Report.

Biomedicines
2023

Hypermobile 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 &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2023

Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease.

Frontiers in cell and developmental biology
2023

Relationship between Locomotive Syndrome and Musculoskeletal Pain and Generalized Joint Laxity in Young Chinese Adults.

Healthcare (Basel, Switzerland)
2023

Developmental Foot Deformities in Patients with Connective Tissue Disorders.

JBJS reviews
2022

A gynecological perspective of interstitial cystitis/bladder pain syndrome may offer cure in selected cases.

Central European journal of urology
2023

De 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 medicine
2023

Postoperative 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 orthopaedics
2023

Selective Myectomy and Myotomy In Situ for the Management of Refractory Blepharospasm in Meige Syndrome.

Annals of plastic surgery
2023

De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.

Cureus
2023

Initial Outcomes Using Cryoablation in Surgical Management of Slipping Rib Syndrome.

Journal of pediatric surgery
2023

A 20-Year Retrospective Study of Children and Adolescents Treated by the Three-in-One Procedure for Patellar Realignment.

Journal of clinical medicine
2022

New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report.

Frontiers in pediatrics
2023

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

American journal of medical genetics. Part A
2023

Obsructive sleep apnea syndrome: is it a risk factor for ocular surface disease and ocular comorbidities?

International ophthalmology
2022

[Controversy of subtalar arthroereisis in symptomatic flatfoot].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2023

Floppy Eyelid Syndrome: an Overlooked Comorbidity Among Bariatric Patients.

Obesity surgery
2022

Hyaluronic Acid and Radiofrequency in Patients with Urogenital Atrophy and Vaginal Laxity.

Pharmaceuticals (Basel, Switzerland)
2022

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Genes
2022

A Forme Fruste of Marfan Syndrome: A Case Report.

Cureus
2022

Micro-Focused Ultrasound Therapy in Patients with Urogenital Atrophy and Vaginal Laxity.

Journal of clinical medicine
2023

Treatment 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 Medicine
2022

Variant connective tissue (joint hypermobility) and its relevance to depression and anxiety in adolescents: a cohort-based case-control study.

BMJ open
2022

Proximal 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 reports
2023

Association between obstructive sleep apnea and floppy eyelid syndrome: A systematic review and metaanalysis.

Survey of ophthalmology
2023

Urinary Incontinence in Elite Female Athletes.

Current urology reports
2023

Congenital 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 Strabismus
2023

How did intraoperative neuromonitorization prevent tetraplegia?

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

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.

Radiology case reports
2022

Autonomic nerve regulation in joint hypermobility patients with myofascial trigger points by Musculoskeletal Interfiber Counterirritant Stimulation (MICS).

Medical engineering &amp; physics

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

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. Distinct Phenotypes of Full-Thickness Rectal Prolapse in Women: A Comparison of Defecation-Only and Spontaneous Presentations.
    Neurogastroenterology and motility· 2026· PMID 41708524mais citado
  2. Neural processes linking joint hypermobility and anxiety: key roles for the amygdala and insular cortex.
    The British journal of psychiatry : the journal of mental science· 2026· PMID 39895195mais citado
  3. Management of Pregnancy-related Hand and Upper-extremity Conditions and Trauma: Pain Control, Anesthesia, and Other Perioperative Considerations.
    The Orthopedic clinics of North America· 2026· PMID 41856748mais citado
  4. High prevalence of generalized ligamentous laxity in patellar dislocation with posterior weight-bearing lateral femoral condyle osteochondral fractures: an observational study and treatment outcomes.
    Journal of orthopaedic surgery and research· 2026· PMID 41851889mais citado
  5. First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.
    Journal of surgical case reports· 2026· PMID 41836891mais citado
  6. Clinical Outcomes and Measures for Vaginal Relaxation Syndrome: A Systematic Review.
    Value Health· 2026· PMID 40902796recente
  7. Clinical relevance of transperineal ultrasound compared with anorectal manometry for the evaluation of female patients with obstructive defecation syndrome.
    BMC Gastroenterol· 2025· PMID 40770680recente
  8. Is obstructive sleep apnea syndrome a risk factor for floppy eyelid syndrome? A multicenter study.
    Cranio· 2026· PMID 39778110recente
  9. Clinical Staging of Prostaglandin-Associated Periorbitopathy Syndrome in Glaucoma: A Review from Asia.
    Semin Ophthalmol· 2024· PMID 38842062recente
  10. Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.
    Ann Agric Environ Med· 2023· PMID 37772538recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2181(Orphanet)
  2. OMIM OMIM:236660(OMIM)
  3. MONDO:0009363(MONDO)
  4. GARD:1666(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular

ORPHA:2181 · MONDO:0009363
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1856051
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades