Raras
Buscar doenças, sintomas, genes...
Síndrome Oliver
ORPHA:2920CID-10 · Q87.2CID-11 · LD26.2OMIM 258200DOENÇA RARA

A Síndrome de Oliver é uma síndrome muito rara caracterizada por deficiência intelectual, dedos a mais nas mãos ou nos pés e epilepsia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Oliver é uma síndrome muito rara caracterizada por deficiência intelectual, dedos a mais nas mãos ou nos pés e epilepsia.

Publicações científicas
247 artigos
Último publicado: 2026 Apr 13

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
7
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-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
9 sintomas
🧠
Neurológico
4 sintomas
😀
Face
3 sintomas
👂
Ouvidos
2 sintomas
💪
Músculos
2 sintomas
🦷
Dentes
2 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Polidactilia pós-axial da mão
Muito frequente (99-80%)
90%prev.
Deficiência intelectual, profunda
Muito frequente (99-80%)
55%prev.
Fala pobre
Frequente (79-30%)
55%prev.
Crise tônico-clônica bilateral
Frequente (79-30%)
55%prev.
Sindactilia cutânea dos dedos
Frequente (79-30%)
55%prev.
Prognatismo mandibular
Frequente (79-30%)
27sintomas
Muito frequente (2)
Frequente (7)
Ocasional (16)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.

Polidactilia pós-axial da mãoPostaxial hand polydactyly
Muito frequente (99-80%)90%
Deficiência intelectual, profundaIntellectual disability, profound
Muito frequente (99-80%)90%
Fala pobrePoor speech
Frequente (79-30%)55%
Crise tônico-clônica bilateralBilateral tonic-clonic seizure
Frequente (79-30%)55%
Sindactilia cutânea dos dedosCutaneous finger syndactyly
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico247PubMed
Últimos 10 anos121publicações
Pico202518 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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 Oliver

🗺️

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
120 papers (10 anos)
#1

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.

Pediatrics2026 Jan 01

A 13-year-old girl presented for evaluation of pulmonary hypertension after symptoms of dyspnea and exercise intolerance. Full evaluation was negative except for abdominal ultrasonography with splenomegaly and esophageal varices suggestive of portal hypertension. Cardiac and hepatic vein catheterization confirmed portopulmonary hypertension. Liver biopsy demonstrated sinusoidal dilatation, nodularity, and minimal fibrosis, which was interpreted as possible nodular regenerative hyperplasia but not cirrhosis. Radiographic imaging, including computed tomography venography, demonstrated an elongated and severely stenotic extrahepatic portal vein, and portal hypertension was presumed to be secondary to congenital portal vein hypoplasia. She was treated with ambrisentan with initial improvement in symptoms and estimated pulmonary pressure. Whole-exome sequencing revealed a likely pathogenic missense mutation in Delta-like canonical Notch ligand 4 associated with Adams-Oliver syndrome. After 2 years, pulmonary hypertension and right heart failure symptoms worsened, along with liver failure. She then had fulminant liver failure and cardiorespiratory arrest. Resuscitative efforts included extracorporeal membranous oxygenation (ECMO), but because of hypoxic brain injury, care was compassionately withdrawn. Autopsy limited to the thorax and abdomen revealed high-grade pulmonary plexiform arteriopathy, splenomegaly, esophageal varices, and large splenorenal shunt. The liver was small with a nodular surface but not fibrotic. The entire length of the extrahepatic portal vein was severely stenotic, and intrahepatic portal veins were missing or diminutive-findings diagnostic of hepatoportal sclerosis. Noncirrhotic portopulmonary hypertension is rare and should include evaluation of immunologic, infectious, toxic, thrombotic, and genetic etiologies. Unfortunately, there is no known treatment of hepatoportal sclerosis.

#2

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.

Diagnostics (Basel, Switzerland)2026 Jan 15

Background and Clinical Significance: Adams-Oliver syndrome type 3 (AOS3) is a rare congenital disorder typically characterised by terminal transverse limb defects and variable involvement of other organ systems. Although pathogenic variants in RBPJ are well established in AOS3, associated neurodevelopmental or psychiatric features have been only sporadically documented. Case Presentation: We describe a male patient first evaluated at the age of 10 years and subsequently re-evaluated at 14 years, with AOS3 presenting terminal limb defects together with autistic-like behaviour, cognitive difficulties, dyslexia, and recurrent depressive symptoms. Whole-exome sequencing (WES) identified a heterozygous pathogenic variant in RBPJ (c.505A>G; p.Lys169Glu), confirming the molecular diagnosis of autosomal dominant AOS3. Additional findings included a heterozygous missense variant in CACNA1A (p.Arg1678Cys), a gene linked to neurological disorders with broad phenotypic variability. Because of elevated homocysteine levels, the patient was also tested for MTHFR variants and was found to be heterozygous for C677T and A1298C. Conclusions: This case illustrates a rare combination of a validated AOS3-associated RBPJ variant, along with additional CACNA1A and MTHFR variants that may influence the patient's neurocognitive and psychiatric characteristics. The results underscore the importance of comprehensive genetic testing in atypical AOS presentations and highlight the complexity of interpreting overlapping genetic factors.

#3

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

The American journal of case reports2026 Jan 01

BACKGROUND Aplasia cutis congenita (ACC) is a rare congenital defect involving localized absence of skin, occasionally associated with deeper tissue anomalies and congenital malformations. CASE REPORT We report the case of a full-term newborn presenting with extensive ACC involving 40% of the scalp, alongside multiple congenital heart defects, ultimately consistent with tetralogy of Fallot (ToF). Initial management included conservative wound care, cardiologic and neurologic evaluations, and genetic testing. Despite clinical stability at discharge, the infant was readmitted 3 weeks later with hemorrhagic shock secondary to sagittal sinus bleeding, requiring surgical intervention and intensive care. Subsequent follow-up revealed tonic seizures and radiological findings suggestive of prior mild hypoxic injury. While the Rapid Aneuploidy Detection test confirmed a normal female karyotype (46,XX), whole-exome sequencing was pending; however, Adams-Oliver syndrome was strongly suspected. This case illustrates the diagnostic and management challenges posed by extensive ACC with syndromic associations. It also highlights the limitations of antenatal screening, as no abnormalities were detected during pregnancy despite fetal growth restriction. CONCLUSIONS The case underscores the need for a multidisciplinary approach, parental education, and long-term follow-up. Early recognition and coordinated care are essential for managing potential complications and guiding prognosis in complex cases of ACC with associated congenital anomalies.

#4

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

International journal of molecular sciences2025 Dec 23

The present review aims to provide a comprehensive overview of the current literature on Adams-Oliver syndrome (AOS), synthesizing information on its clinical features, genetic and molecular underpinnings, nutritional aspects, and key nursing care considerations. AOS is a rare congenital disorder. Its genetic basis is heterogeneous, involving mutations in at least six key genes (ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT), which primarily affect vascular development through pathways like Notch signaling and Rho GTPase regulation. The management of AOS is complex and requires a multidisciplinary approach. The clinical presentation of AOS is highly variable, ranging from mild to severe and includes a wide spectrum of clinical manifestations, most notably aplasia cutis congenita and terminal transverse limb defects. The underlying molecular mechanisms predominantly point towards vasculopathy, disrupting embryonic development. Emerging evidence also highlights the presence of nutritional issues, such as poor feeding and growth failure, which are often overlooked. Management demands an integrated, multidisciplinary management approach, requiring coordinated effort from specialists in pediatrics, genetics, molecular biology, cardiology, surgery, and nutrition. Specialized nursing care is crucial for managing complex symptoms, particularly wound care for aplasia cutis, and for providing family support.

#5

Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.

Frontiers in pediatrics2025

Adams-Oliver syndrome is a rare congenital disorder with six subtypes that have been identified. Subtypes 1, 3, 5, and 6 have an autosomal dominant inheritance pattern, whereas subtypes 2 and 4 have an autosomal recessive inheritance pattern. The clinical phenotype of Adams-Oliver syndrome is heterogeneous and can be accompanied by abnormalities in other organs, especially the cardiovascular system, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, vascular abnormalities in other organs, and congenital heart defects. Herein, we report a case of Adams-Oliver syndrome caused by a de novo variant in DLL4. The patient was a neonate with clinical manifestations of skin defects who was diagnosed with Adams-Oliver syndrome on the basis of genetic testing.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC179 artigos no totalmostrando 119

2026

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.

Diagnostics (Basel, Switzerland)
2025

Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.

Cureus
2025

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

International journal of molecular sciences
2026

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

The American journal of case reports
2025

ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature.

Ophthalmic genetics
2026

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.

Pediatrics
2025

Mouse scalp development requires Rac1 and SRF for the maintenance of mechanoresponsive mesenchyme.

Development (Cambridge, England)
2025

Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndrome.

The Journal of clinical investigation
2025

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Clinical case reports
2025

Adams-Oliver syndrome: an unusual congenital disorder.

Oxford medical case reports
2025

Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management.

Pediatric dermatology
2025

Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.

Clinical &amp; experimental ophthalmology
2025

Adams-Oliver Syndrome in a Newborn: A Case Report and Comprehensive Literature Review.

Cureus
2025

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

BMC medical genomics
2025

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.

BMC medical genomics
2025

Perinatal outcomes in cases of umbilical-portal-systemic venous shunts: experience of a tertiary center.

BMC pregnancy and childbirth
2025

Aplasia Cutis: From Diagnosis to Management-2 Decades of Clinical Insights.

Plastic and reconstructive surgery
2025

Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.

Frontiers in pediatrics
2025

Mouse scalp development requires Rac1 and SRF for the maintenance of mechanosensing mesenchyme.

bioRxiv : the preprint server for biology
2025

Effective in vivo binding energy landscape illustrates kinetic stability of RBPJ-DNA binding.

Nature communications
2025

Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome.

The Kaohsiung journal of medical sciences
2024

Human Genetics of Ventricular Septal Defect.

Advances in experimental medicine and biology
2024

Adams-Oliver syndrome associated with refractory glaucoma.

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

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Genes
2024

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

European journal of human genetics : EJHG
2024

Adams-Oliver syndrome: About a case.

Clinical case reports
2024

Encephalocele as a rare complication of conservatively managed cranial aplasia cutis in a boy with Adams-Oliver syndrome.

Pediatrics and neonatology
2023

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition.

Pediatric dermatology
2023

Adams-Oliver Syndrome - A Case Report.

Indian dermatology online journal
2023

A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.

Molecular biology reports
2023

NOTCH1 loss of the TAD and PEST domain: An antimorph?

American journal of medical genetics. Part A
2022

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

Frontiers in surgery
2023

The role of Notch signaling pathway in metabolic bone diseases.

Biochemical pharmacology
2022

Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature.

Biomedica : revista del Instituto Nacional de Salud
2022

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.

European journal of medical genetics
2022

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Synergistic effects of rare variants of ARHGAP31 and FBLN1 in vitro in terminal transverse limb defects.

Frontiers in genetics
2022

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

American journal of medical genetics. Part A
2022

Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.

International journal of ophthalmology
2022

A Drosophila Su(H) model of Adams-Oliver Syndrome reveals cofactor titration as a mechanism underlying developmental defects.

PLoS genetics
2022

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

Annals of neurology
2022

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update.

Archives of plastic surgery
2022

Adams-Oliver Syndrome: A Rare Congenital Disorder.

Cureus
2023

Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.

Fetal and pediatric pathology
2022

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.

Pediatric dermatology
2022

Adams-Oliver syndrome, intestinal obstruction and heart defects: a case series of aplasia cutis congenita.

Oxford medical case reports
2022

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.

American journal of medical genetics. Part A
2021

Murine Model of Cardiac Defects Observed in Adams-Oliver Syndrome Driven by Delta-Like Ligand-4 Haploinsufficiency.

Stem cells and development
2021

Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.

BMC anesthesiology
2020

Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita.

Acta dermatovenerologica Croatica : ADC
2021

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.

Medicine
2021

"Health status of children with chronic liver disease during the SARS-CoV-2 outbreak: results from a multicentre study".

Clinics and research in hepatology and gastroenterology
2021

Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment.

International journal of molecular sciences
2021

The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.

Prenatal diagnosis
2021

Ex Vivo Models to Decipher the Molecular Mechanisms of Genetic Notch Cardiovascular Disorders.

Tissue engineering. Part C, Methods
2021

Diseases related to Notch glycosylation.

Molecular aspects of medicine
2022

PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME.

Retinal cases &amp; brief reports
2021

Aplasia cutis congenita in a CDC42-related developmental phenotype.

American journal of medical genetics. Part A
2020

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Dermatology practical &amp; conceptual
2020

Aplasia cutis congenita: a report of two cases from National Hospital Abuja, Nigeria and review of the literature.

The Pan African medical journal
2020

Pleiotropic Role of Notch Signaling in Human Skin Diseases.

International journal of molecular sciences
2020

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2020

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

Ophthalmic genetics
2020

Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy.

American journal of ophthalmology case reports
2020

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.

Neonatal network : NN
2020

Treatment of a Large Skull Defect and Brain Herniation in a Newborn With Adams-Oliver Syndrome.

Cureus
2020

Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.

DNA and cell biology
2020

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Human molecular genetics
2020

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

American journal of medical genetics. Part A
2019

Adams-Oliver syndrome caused by mutations of the EOGT gene.

American journal of medical genetics. Part A
2019

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Chinese medical journal
2019

Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita.

Ophthalmology. Retina
2019

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

American journal of medical genetics. Part A
2019

[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019

Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.

Gene
2019

Structure and function of extracellular O-GlcNAc.

Current opinion in structural biology
2019

[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].

Annales de dermatologie et de venereologie
2018

Congenital diseases caused by defective O-glycosylation of Notch receptors.

Nagoya journal of medical science
2018

Dermatoscopy of Common Lesions in Pediatric Dermatology.

Dermatologic clinics
2018

Intracranial Calcifications in Young Children.

Seminars in pediatric neurology
2019

Adams-Oliver Syndrome: Limited Expression.

Indian journal of pediatrics
2018

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human mutation
2019

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.

Clinical genetics
2018

Adams Oliver syndrome with cerebellar cortical dysplasia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics
2018

CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein.

Oncotarget
2018

Importance of complete phenotyping in prenatal whole exome sequencing.

Human genetics
2017

A Case of Adams-Oliver Syndrome.

Advanced biomedical research
2019

Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery.

Journal of neurosurgical anesthesiology
2017

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

Pediatric dermatology
2017

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Journal of human genetics
2017

The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts.

Scientific reports
2017

Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt.

Pediatric reports
2017

Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.

Journal of wound care
2017

Visual Diagnosis: A Baby with a Scalp Lesion, Rash, and Left-Foot Deformity.

Pediatrics in review
2017

The developmental biology of genetic Notch disorders.

Development (Cambridge, England)
2017

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Journal of human genetics
2017

EOGT and O-GlcNAc on secreted and membrane proteins.

Biochemical Society transactions
2019

Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.

Small GTPases
2017

Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

American journal of medical genetics. Part A
2016

Adams-Oliver syndrome associated with gastrointestinal malformations.

BMJ case reports
2016

[Aplasia cutis congenita: Update and management].

Annales de chirurgie plastique et esthetique
2016

Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator.

Developmental cell
2016

Adams-Oliver Syndrome: A Case with Full Expression.

Pediatric reports
2016

Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome".

The Journal of hand surgery
2016

Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome.

The Journal of hand surgery
2016

Novel copy number variants and major limb reduction malformation: Report of three cases.

American journal of medical genetics. Part A
2015

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Human mutation
2015

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

Clinical genetics
2015

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.

Human mutation
2015

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

American journal of human genetics
2015

Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system.

Experimental neurology
2015

Idiopathic non-cirrhotic portal hypertension: a review.

Orphanet journal of rare diseases
2015

Aplasia cutis congenita: report of 22 cases.

International journal of dermatology
2015

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Circulation. Cardiovascular genetics
2015

Cardiovascular malformations in Adams-Oliver syndrome.

American journal of medical genetics. Part A
2015

N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.

Biochimica et biophysica acta
2015

Multiple tics in a patient with Adams-Oliver syndrome.

The Journal of neuropsychiatry and clinical neurosciences
2015

Adams-Oliver syndrome: a case report.

Pediatric dermatology
Ver todos os 179 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome Oliver.

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 Oliver

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

Ordenadas pelo número de sintomas em comum.

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. Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.
    Pediatrics· 2026· PMID 41406992mais citado
  2. Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.
    Diagnostics (Basel, Switzerland)· 2026· PMID 41594250mais citado
  3. Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.
    The American journal of case reports· 2026· PMID 41477812mais citado
  4. Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.
    International journal of molecular sciences· 2025· PMID 41516051mais citado
  5. Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.
    Frontiers in pediatrics· 2025· PMID 40098638mais citado
  6. Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.
    Genet Med· 2026· PMID 41979051recente
  7. Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.
    Glob Med Genet· 2026· PMID 41959640recente
  8. Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.
    Cureus· 2025· PMID 41552262recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2920(Orphanet)
  2. OMIM OMIM:258200(OMIM)
  3. MONDO:0009777(MONDO)
  4. GARD:4069(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782162(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 Oliver
Compêndio · Raras BR

Síndrome Oliver

ORPHA:2920 · MONDO:0009777
Prevalência
<1 / 1 000 000
Casos
7 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1850320
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades