Hipoplasia da ulna - déficit intelectual é uma síndrome muito rara caracterizada por falta mesomélica dos antebraços, pés tortos bilaterais, aplasia ou hipoplasia de todas as unhas e retardo psicomotor grave.
Introdução
O que você precisa saber de cara
Hipoplasia da ulna - déficit intelectual é uma síndrome muito rara caracterizada por falta mesomélica dos antebraços, pés tortos bilaterais, aplasia ou hipoplasia de todas as unhas e retardo psicomotor grave.
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
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 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 hipoplasia do cúbito-transtorno do desenvolvimento intelectual
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual
Centros para Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.
This study aimed to evaluate the clinical outcomes and changes in distal radioulnar joint (DRUJ) stability in patients with ulnar impaction syndrome (UIS) combined with DRUJ instability, treated with ulnar shortening osteotomy (USO) without concomitant triangular fibrocartilage complex (TFCC) repair. Between November 2017 and December 2024, a total of 16 patients (7 males, 9 females; mean age, 40 ± 12 years) underwent USO combined with wrist arthroscopy, followed by structured rehabilitation and regular follow-up. Clinical outcomes were assessed using ulnar variance, the Ballottement test, visual analog scale (VAS) for pain, Disabilities of the Arm, Shoulder, and Hand (DASH) score, modified Mayo wrist score, Patient-Rated Wrist Evaluation (PRWE), grip strength, and wrist range of motion. Preoperatively, all patients had positive Ballottement tests, and TFCC injuries were confirmed by arthroscopy. At the final follow-up (mean, 31 months), ulnar variance was significantly reduced, and VAS, DASH, modified Mayo wrist score, PRWE, and grip strength all showed marked improvement. DRUJ stability was restored in all patients, with the Ballottement test converting to negative. These findings suggest that isolated USO effectively treats UIS with concurrent DRUJ instability and achieves satisfactory clinical outcomes without the need for simultaneous TFCC repair. Therapeutic, Level IV.
Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.
Acute compartment syndrome (ACS) is a rare but limb-threatening emergency in children, usually associated with displaced fractures, crush injuries, or high-energy trauma. Prompt recognition and fasciotomy are essential to prevent permanent disability. An unusual case of ACS after non-displaced fractures is presented, challenging traditional risk factors. A healthy 4-year-old girl presented 12 h after a 2-m fall with severe forearm pain, swelling, an absent radial pulse, delayed capillary refill (3 - 4 s), and cold digits. Radiographs showed non-displaced proximal ulna and distal radius fractures. Emergency fasciotomy was performed based on clinical findings of ACS. ACS can occur in children after non-displaced fractures, even without conventional risk factors. Clinicians should rely on careful neurovascular assessment and clinical suspicion rather than fracture type or mechanism alone. Early recognition and surgical intervention are critical to preserve limb function.
Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
Pediatric distal radius fractures with epiphyseal growth arrest can lead to ulnar positive variance and ulnar carpal abutment. In these cases, where there is an associated distally facing sigmoid (or reverse oblique sigmoid, Tolat type III), an ulna shortening osteotomy can result in incongruity of the distal radioulnar joint (DRUJ). We present a series of patients with a distally facing sigmoid who had undergone an ulna shortening osteotomy and sigmoid notch rotational osteotomy to treat the ulnar carpal abutment and adjust for the incongruity of the DRUJ. A review of patients who had undergone sigmoid notch rotational osteotomy with ulna shortening osteotomy was performed. All patients had a history of pediatric distal radius fracture, ulnar abutment syndrome, and Tolat type III DRUJ. Data on clinical history, postoperative physical examination, visual analog scale score, Disabilities of Arm, Shoulder, and Hand, Patient-Rated Wrist Evaluation, and plain radiographs of both the operated and unaffected wrists were collected. Of the 6 patients treated, 4 were available for follow-up, with an age range of 13-23 years. The mean follow-up period was 99 months (range: 66-168 months). The mean follow-up value for visual analog score pain score was 0.5. Physical examination demonstrated a similar range of motion and grip strength of both the operated and unaffected wrists. Plain film radiography confirmed union of all osteotomy sites and reversal of the sigmoid notch angle, matching the ulnar seat angle. Ulna shortening with sigmoid notch rotationplasty is an effective option to relieve the symptoms from ulnar carpal abutment associated with a distally facing sigmoid. Therapeutic V.
Comparison of dynamic compression plate systems with oblique osteotomy and locking plate fixation versus transverse osteotomy and non-locking plate fixation for ulnar shortening osteotomy.
Ulnar shortening osteotomy (USO) is a well-established surgical technique for ulnar impaction syndrome and triangular fibrocartilage complex injuries, but complications like delayed union and nonunion are often encountered. Transverse and oblique osteotomy techniques are commonly used, yet direct comparisons using advanced implants are limited. This study aims to compare the clinical and radiological outcomes of USO using the Jplate with a transverse osteotomy device and the APTUS Wrist Ulna Shortening System 2.5 with an oblique osteotomy device. We retrospectively reviewed 37 patients who underwent USO (15 and 22 treated with the Jplate and APTUS systems, respectively) from July 2009 to October 2022. Clinical outcomes were measured using the visual analog scale (VAS), grip strength, range of motion, Quick Disabilities of the Arm, Shoulder, and Hand questionnaire, and Hand20 scores. Radiological outcomes included time to bone union, delayed union, and nonunion rates. Statistical analyses involved Mann-Whitney and Kruskal-Wallis tests and multivariable linear regression models adjusted for age, sex, and smoking status. Time to union was faster in the APTUS group compared to the Jplate group, with a significantly higher delayed union rate in the Jplate group than in the APTUS group. Postoperative pain reduction was significantly greater in the APTUS group compared to the Jplate group. Improvements in Hand20 scores were also significantly higher in the APTUS group compared to the Jplate group. Multivariable regression analyses confirmed that the APTUS system significantly shortened time to union and improved VAS and Hand20 scores. The APTUS system provides superior clinical and radiological outcomes compared to the Jplate, with significant reductions in delayed union rates and postoperative pain and earlier bone healing. This system enables oblique osteotomy and compression of the osteotomy site with a single device, which may have contributed to the observed differences in our study. Level 4.
Ulnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.
We primarily aimed to report the results of ulnar shortening osteotomy (USO) in cases of ulna impaction syndrome (UIS), and secondarily to assess the influence of etiology, radiographic parameters, and comorbidities on the outcome. Patients with USO performed for UIS between 2014 and 2022 at our department were included in the study. Demographic, surgical, and postoperative data, including complications and revisions, were recorded retrospectively. An additional study-specific follow-up was performed in all available cases, including subjective outcome measures as Patient Related Wrist Evaluation (PRWE) and Quick Disability of the Arm Shoulder and Hand (Quick-DASH) scores, and standardized 90-90° wrist radiographs. 47 patients were treated with USO at mean age 45.8 years (standard deviation [SD] 16.7); 28 were female; median follow-up was 37 months (interquartile range [IQR] 22-57). Isolated USO was performed in 27 cases; the rest received a combination of procedures, e.g., wrist arthroscopy. USO-specific devices were used in all cases. Reoperations were performed in 12 cases, with implant removal in 11. Postoperative complications such as chronic regional pain syndrome or pseudoarthrosis were detected in 9 patients. 29 patients were additionally examined at median 36 months (IQR 22-49) follow-up. A median PRWE score of 7 (IQR 0-19) and a median Quick-DASH score of 4.5 (IQR 0-15.9) were reported. The subjective improvement was rated as very high by 24 patients. Radiographs showed a mean ulnar shortening of 2.9 mm (SD 1.1) and bone consolidation was achieved in all osteotomies at last follow-up. Relevant comorbidities weakly correlated with worse outcome scores (ρ = 0.41, 95% confidence interval [CI] -0.05 to 0.74 for PRWE and ρ = 0.40, CI -0.06 to 0.73 for Quick-DASH). No statistically significant difference could be detected in any other variables, including UIS etiology. We found that USO had good subjective results measure scores, but with relatively high complication and revision rates, including implant removal.
Publicações recentes
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns.
📚 EuropePMCmostrando 45
Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.
Journal of plastic surgery and hand surgeryAcute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.
Journal of medical casesUlnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
The Journal of hand surgeryUlnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.
Acta orthopaedicaComparison of dynamic compression plate systems with oblique osteotomy and locking plate fixation versus transverse osteotomy and non-locking plate fixation for ulnar shortening osteotomy.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationCombined Arthroscopic Wafer Procedure and Triangular Fibrocartilage Complex Debridement versus Ulnar Shortening Diaphyseal Osteotomy in Management of Ulnar Impaction Syndrome: A Randomized Clinical Trial.
Journal of wrist surgeryOutcomes of Surgical Treatment of Vaughan-Jackson Syndrome.
Journal of wrist surgeryAlgorithm-Guided Treatment of Ulna Impaction Syndrome: A 10-Year Follow-Up Study of Ulna Shortening Osteotomy and Wafer Procedure.
Journal of clinical medicineDistal Positioning of the Ulnar Shortening Plate Increases Symptomatic Removal: A Comparative Analysis of Ulnar Shortening Osteotomy Plate Positioning and Symptomatic Hardware Removal.
Journal of wrist surgeryA modified partial wedge-shaped metaphyseal ulnar osteotomy for the treatment of ulnar impaction syndrome with reverse oblique sigmoid notch.
The Journal of hand surgery, European volumeOutcomes of Ulnar Shortening Osteotomy with an Intramedullary Bone Graft for Idiopathic Ulnar Impaction Syndrome.
Clinics in orthopedic surgeryMinimial clinically important difference values in distal metaphyseal ulnar shortening for ulnar impaction syndrome and assessment of the relationship between level of the osteotomy and bone union time.
Acta orthopaedica et traumatologica turcicaModified Extensor Indicis Proprius Opponensplasty.
Techniques in hand & upper extremity surgeryResection Arthroplasty Is a Valuable Strategy for Humeroradial Synostosis - A Case Report.
The journal of hand surgery Asian-Pacific volumeFlexor Pronator Slide Under Local Anesthesia without a Tourniquet for Non-Ischemic Contractures of the Forearm.
JBJS essential surgical techniquesThe ageless approach: Nonoperative mastery competes head-on with surgery for elderly distal radius fractures.
Journal of orthopaedic research : official publication of the Orthopaedic Research SocietyIs ulnar shortening osteotomy effective for the treatment of ulnar styloid impaction syndrome compared to ulnar impaction syndrome?
International orthopaedicsComparison of diaphyseal and metaphyseal ulnar shortening osteotomies for the treatment of ulnar impaction syndrome.
BMC musculoskeletal disordersClinical Study of Wrist Arthroscopy Combined with Oblique Ulnar Shortening Osteotomy in the Treatment of Ulnar Impaction Syndrome.
Orthopaedic surgerySevere coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants.
European journal of medical geneticsArthroscopic Wafer Procedure Versus Ulnar Shortening Osteotomy for Treatment of Idiopathic Ulnar Impaction Syndrome: A Randomized Controlled Trial.
The Journal of hand surgeryUlnar shortening osteotomy vs. wafer resection for ulnar impaction syndrome: A systematic review and meta-analysis.
International journal of surgery (London, England)Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
American journal of medical genetics. Part A[Meta-analysis of external fixator and open reduction and internal fixation for the treatment of distal radius fracture].
Zhongguo gu shang = China journal of orthopaedics and traumatologyFracture in Humeroradial Synostosis: Description of Two Clinical Cases.
Revista brasileira de ortopediaNovel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
American journal of medical genetics. Part AOutcomes of ulnar shortening osteotomy using a new compression plate.
Hand surgery & rehabilitation[Surgical treatment of ulnar impaction syndrome : Ulnar shortening osteotomy through the ulnopalmar approach using a low-profile, locking plate].
Operative Orthopadie und TraumatologieCombined navigated drilling and arthroscopy facilitate minimally invasive surgical treatment of ulnar-radial joint dislocation caused by epiphyseal premature closure: A case report.
MedicineSolitary ulnar shortening osteotomy for malunion of distal radius fractures: experience of a centre in the UK and review of the literature.
Annals of the Royal College of Surgeons of EnglandComparison of clinical outcomes after ulnar shortening osteotomy for ulnar impaction syndrome with or without arthroscopic debridement.
The Journal of hand surgery, European volumeOutcomes of the Ulnar Shortening Osteotomy Using a Dynamic Compression Plate on the Ulnar Surface of the Ulna.
Journal of wrist surgeryDiagnosis and treatment of acute Essex-Lopresti injury: focus on terminology and review of literature.
BMC musculoskeletal disordersPrognostic value of clinical and radiological findings for conservative treatment of idiopathic ulnar impaction syndrome.
Scientific reportsFamilial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
Cytogenetic and genome researchArthroscopic Wafer Procedure Versus Ulnar Shortening Osteotomy as a Surgical Treatment for Idiopathic Ulnar Impaction Syndrome.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationGenetic vulnerabilities to prenatal alcohol exposure: Limb defects in sonic hedgehog and GLI2 heterozygous mice.
Birth defects researchMetaphyseal Versus Diaphyseal Ulnar Shortening Osteotomy for Treatment of Ulnar Impaction Syndrome: A Comparative Study.
The Journal of hand surgeryTime-Dependent Recovery of Outcome Parameters in Ulnar Shortening for Positive Ulnar Variance: A Prospective Case Series.
Hand (New York, N.Y.)Treatment of displaced supracondylar humeral fractures in children by humero-ulnar external fixation.
International orthopaedicsEvaluation of the metaphyseal ulnar shortening technique according to Sennwald.
Acta orthopaedica BelgicaLong-term functional outcome and patient satisfaction after ulnar head resection.
Journal of plastic, reconstructive & aesthetic surgery : JPRASUlna-Shortening Osteotomy: Outcome and Repercussion of the Distal Radioulnar Joint Osteoarthritis.
Plastic and reconstructive surgeryDistal Radius Isoelastic Resurfacing Prosthesis: A Preliminary Report.
Journal of wrist surgeryFunctionality after arthroscopic debridement of central triangular fibrocartilage tears with central perforations.
The Journal of hand surgeryAssociações
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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.
- Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.
- Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.
- Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
- Comparison of dynamic compression plate systems with oblique osteotomy and locking plate fixation versus transverse osteotomy and non-locking plate fixation for ulnar shortening osteotomy.Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association· 2025· PMID 39658455mais citado
- Ulnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.
- Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
- Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2249(Orphanet)
- OMIM OMIM:276821(OMIM)
- MONDO:0010165(MONDO)
- GARD:5398(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782375(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
