Raras
Buscar doenças, sintomas, genes...
Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual
ORPHA:2249CID-10 · Q87.2OMIM 276821DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

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
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, CE, DF, SP +5CID-10: Q87.2
🇧🇷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
6 sintomas
🧠
Neurológico
3 sintomas
😀
Face
1 sintomas
👂
Ouvidos
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Mesomelia
Muito frequente (99-80%)
90%prev.
Hipotonia
Muito frequente (99-80%)
90%prev.
Luxação do cotovelo
Muito frequente (99-80%)
90%prev.
Fontanelas grandes
Muito frequente (99-80%)
90%prev.
Metatarso aduto
Muito frequente (99-80%)
90%prev.
Baixa estatura grave
Muito frequente (99-80%)
20sintomas
Muito frequente (18)
Frequente (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Mesomelia
Muito frequente (99-80%)90%
HipotoniaHypotonia
Muito frequente (99-80%)90%
Luxação do cotoveloElbow dislocation
Muito frequente (99-80%)90%
Fontanelas grandesLarge fontanelles
Muito frequente (99-80%)90%
Metatarso adutoMetatarsus adductus
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos45publicações
Pico20249 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 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

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.

Journal of plastic surgery and hand surgery2026 Mar 24

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.

#2

Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.

Journal of medical cases2026 Jan

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.

#3

Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.

The Journal of hand surgery2026 Mar

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.

#4

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 Association2025 Sep

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.

#5

Ulnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.

Acta orthopaedica2025 Mar 10

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

Ver todas no PubMed

📚 EuropePMCmostrando 45

2026

Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.

Journal of plastic surgery and hand surgery
2026

Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.

Journal of medical cases
2026

Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.

The Journal of hand surgery
2025

Ulnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.

Acta orthopaedica
2025

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
2024

Combined 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 surgery
2024

Outcomes of Surgical Treatment of Vaughan-Jackson Syndrome.

Journal of wrist surgery
2024

Algorithm-Guided Treatment of Ulna Impaction Syndrome: A 10-Year Follow-Up Study of Ulna Shortening Osteotomy and Wafer Procedure.

Journal of clinical medicine
2025

Distal 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 surgery
2025

A 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 volume
2024

Outcomes of Ulnar Shortening Osteotomy with an Intramedullary Bone Graft for Idiopathic Ulnar Impaction Syndrome.

Clinics in orthopedic surgery
2024

Minimial 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 turcica
2024

Modified Extensor Indicis Proprius Opponensplasty.

Techniques in hand &amp; upper extremity surgery
2024

Resection Arthroplasty Is a Valuable Strategy for Humeroradial Synostosis - A Case Report.

The journal of hand surgery Asian-Pacific volume
2024

Flexor Pronator Slide Under Local Anesthesia without a Tourniquet for Non-Ischemic Contractures of the Forearm.

JBJS essential surgical techniques
2024

The ageless approach: Nonoperative mastery competes head-on with surgery for elderly distal radius fractures.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society
2023

Is ulnar shortening osteotomy effective for the treatment of ulnar styloid impaction syndrome compared to ulnar impaction syndrome?

International orthopaedics
2023

Comparison of diaphyseal and metaphyseal ulnar shortening osteotomies for the treatment of ulnar impaction syndrome.

BMC musculoskeletal disorders
2022

Clinical Study of Wrist Arthroscopy Combined with Oblique Ulnar Shortening Osteotomy in the Treatment of Ulnar Impaction Syndrome.

Orthopaedic surgery
2022

Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants.

European journal of medical genetics
2022

Arthroscopic Wafer Procedure Versus Ulnar Shortening Osteotomy for Treatment of Idiopathic Ulnar Impaction Syndrome: A Randomized Controlled Trial.

The Journal of hand surgery
2022

Ulnar shortening osteotomy vs. wafer resection for ulnar impaction syndrome: A systematic review and meta-analysis.

International journal of surgery (London, England)
2021

Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

American journal of medical genetics. Part A
2021

[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 traumatology
2023

Fracture in Humeroradial Synostosis: Description of Two Clinical Cases.

Revista brasileira de ortopedia
2020

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

American journal of medical genetics. Part A
2020

Outcomes of ulnar shortening osteotomy using a new compression plate.

Hand surgery &amp; rehabilitation
2019

[Surgical treatment of ulnar impaction syndrome : Ulnar shortening osteotomy through the ulnopalmar approach using a low-profile, locking plate].

Operative Orthopadie und Traumatologie
2019

Combined navigated drilling and arthroscopy facilitate minimally invasive surgical treatment of ulnar-radial joint dislocation caused by epiphyseal premature closure: A case report.

Medicine
2019

Solitary 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 England
2019

Comparison of clinical outcomes after ulnar shortening osteotomy for ulnar impaction syndrome with or without arthroscopic debridement.

The Journal of hand surgery, European volume
2018

Outcomes of the Ulnar Shortening Osteotomy Using a Dynamic Compression Plate on the Ulnar Surface of the Ulna.

Journal of wrist surgery
2018

Diagnosis and treatment of acute Essex-Lopresti injury: focus on terminology and review of literature.

BMC musculoskeletal disorders
2018

Prognostic value of clinical and radiological findings for conservative treatment of idiopathic ulnar impaction syndrome.

Scientific reports
2017

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Cytogenetic and genome research
2018

Arthroscopic Wafer Procedure Versus Ulnar Shortening Osteotomy as a Surgical Treatment for Idiopathic Ulnar Impaction Syndrome.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2017

Genetic vulnerabilities to prenatal alcohol exposure: Limb defects in sonic hedgehog and GLI2 heterozygous mice.

Birth defects research
2017

Metaphyseal Versus Diaphyseal Ulnar Shortening Osteotomy for Treatment of Ulnar Impaction Syndrome: A Comparative Study.

The Journal of hand surgery
2018

Time-Dependent Recovery of Outcome Parameters in Ulnar Shortening for Positive Ulnar Variance: A Prospective Case Series.

Hand (New York, N.Y.)
2016

Treatment of displaced supracondylar humeral fractures in children by humero-ulnar external fixation.

International orthopaedics
2016

Evaluation of the metaphyseal ulnar shortening technique according to Sennwald.

Acta orthopaedica Belgica
2016

Long-term functional outcome and patient satisfaction after ulnar head resection.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2016

Ulna-Shortening Osteotomy: Outcome and Repercussion of the Distal Radioulnar Joint Osteoarthritis.

Plastic and reconstructive surgery
2015

Distal Radius Isoelastic Resurfacing Prosthesis: A Preliminary Report.

Journal of wrist surgery
2015

Functionality after arthroscopic debridement of central triangular fibrocartilage tears with central perforations.

The Journal of hand surgery

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual.

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 hipoplasia do cúbito-transtorno do desenvolvimento intelectual

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. Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.
    Journal of plastic surgery and hand surgery· 2026· PMID 41875014mais citado
  2. Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.
    Journal of medical cases· 2026· PMID 41487330mais citado
  3. Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
    The Journal of hand surgery· 2026· PMID 40580175mais citado
  4. 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
  5. Ulnar shortening osteotomy for ulna impaction syndrome with positive ulnar variance: retrospective outcome analysis.
    Acta orthopaedica· 2025· PMID 40059765mais citado
  6. Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.
    Orphanet J Rare Dis· 2024· PMID 38515138recente
  7. 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.
    Orphanet J Rare Dis· 2021· PMID 33931066recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2249(Orphanet)
  2. OMIM OMIM:276821(OMIM)
  3. MONDO:0010165(MONDO)
  4. GARD:5398(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual
Compêndio · Raras BR

Síndrome de hipoplasia do cúbito-transtorno do desenvolvimento intelectual

ORPHA:2249 · MONDO:0010165
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1848650
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades