A Displasia Oculodentodigital (ODDD) é caracterizada por alterações no rosto e na cabeça, neurológicas, nos braços e pernas, e nos olhos.
Introdução
O que você precisa saber de cara
A Displasia Oculodentodigital (ODDD) é caracterizada por alterações no rosto e na cabeça, neurológicas, nos braços e pernas, e nos olhos.
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
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 146 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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells (By similarity). Forms homotypic and heterotypic channels gated by transjunctional voltage (By similarity). May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph (Probabl
Cell membraneCell junction, gap junctionEndoplasmic reticulumCell junction
Oculodentodigital dysplasia
A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Variantes genéticas (ClinVar)
128 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 311 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
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 — Displasia oculo-dento-digital
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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
Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.
Whole-exome sequencing of the proband and the family revealed multi-locus pathogenic variants (MGVs) leading to multiple genetic diagnoses (MGDs), explaining the complex phenotype with neuromuscular, ocular, and craniofacial abnormalities. The proband harbored a de novo hemizygous DMD frameshift variant consistent with Duchenne muscular dystrophy, a paternally inherited heterozygous GJA1 in-frame indel associated with oculodentodigital dysplasia (ODDD), and a novel homozygous FYCO1 nonsense variant causing congenital cataract. Fraction of ROH (FROH) analyses indicated extended autozygosity, which is indicative of second-cousin-level consanguinity. The novel FYCO1 variant was located within one of the indicative ROHs, supporting identity by descent. Structural analysis predicted truncating or domain-disrupting effects across all three genes, aligning with the multisystem phenotype. The coexistence of the DMD, GJA1, and novel FYCO1 variants in a single individual is exceptionally rare. To our knowledge, this represents the first report of such a multi-locus combination, highlighting the diagnostic complexity of combined recessive, dominant, and de novo events in a proband born in a consanguineous ODDD family.
A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.
SPG4, the most common hereditary spastic paraplegia caused by SPAST variants, exhibits extreme age-at-onset variability, indicative of uncharacterized genetic modifiers. The GJA1R148Q variant (linked to oculodentodigital dysplasia) may modulate SPG4 pathogenesis, yet its underlying molecular mechanism remains undefined. We investigated the molecular mechanism by which GJA1R148Q accelerates early SPG4 onset in a proband with dual SPAST and GJA1 variants, and validated its function as a disease modifier for SPG4. We performed comprehensive clinical phenotyping, segregation analysis, coimmunoprecipitation, ubiquitination analyses, CRISPR-mediated correction in patient induced pluripotent stem cell2013derived organoids, and a targeted deubiquitinase screen. The GJA1R148Q enhanced the physical interaction between SPASTIN and GJA1, accelerated the degradation of deubiquitinase valosin-containing protein interacting protein 1 (VCPIP1), and thereby reduced SPASTIN levels. CRISPR-based reversion of the R148Q restored SPASTIN levels and rescued microtubule-severing function. Notably, maternal relatives carrying the GJA1R148Q allele alone exhibited no neurological abnormalities. The GJA1R148Q variant, although non-neurological in isolation, acts as a disease modifier that precipitates SPG4 by exacerbating SPASTIN haploinsufficiency through destabilization of VCPIP1, positioning GJA1-VCPIP1-SPASTIN signaling as a potential therapeutic axis for SPG4 treatment. © 2026 International Parkinson and Movement Disorder Society.
Early-stage keratoconus in a case of oculodentodigital dysplasia.
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder caused by mutations in the GJA1 gene, which encodes connexin 43 (Cx43). The condition presents with a broad phenotypic spectrum including ocular, dental, craniofacial, neurological, and skeletal abnormalities. We report the case of a 24-year-old female patient with genetically confirmed ODDD, carrying the c.226C > T (p.Arg76Cys) variant in the GJA1 gene, who presented with compatible clinical signs. Ophthalmologic evaluation revealed epicanthal folds, microcorneas, nystagmus, hyperprolate corneal profiles, and corneal topography consistent with incipient keratoconus, which may be attributed to functional alterations of Cx43. Close ophthalmologic follow-up is recommended in patients with ODDD to detect treatable visual complications that may significantly impact quality of life.
Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.
Spastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix-Saguenay, Friedreich ataxia, and hereditary spastic paraplegia type-7. We report a 32-year-old female who presented with unsteadiness of gait, incoordination, and tremulousness of both hands for 10 years with microphthalmia, microdontia, dental caries, and syndactyly. Magnetic resonance imaging of the brain showed T2 fluid-attenuated inversion recovery hyper intensities in periventricular and lobar white matter and internal capsule. Thus, we report a genetically confirmed oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, in an Indian patient who presented with spastic ataxic syndrome, a rarity that has not been reported so far.
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 (GJA1) gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in GJA1. Detailed ophthalmic manifestation and clinical features of disease were documented through external color photography and ultrasound biomicroscopy (UBM). Genetic testing was performed through a congenital heart disease panel. A six-year-old girl was referred for ophthalmic evaluation in the setting of numerous syndromic features compatible with ODDD. Clinical features included nasal thinning, alar hypoplasia, hypotrichosis, microdontia and enamel hypoplasia. Ocular manifestations included microcornea, microphthalmia, posterior synechiae, cataract, and persistent hyperplastic primary vitreous. Genetic testing revealed a novel homozygous variant in the GJA1 gene, c.565del p.(Arg189Glufs *35). This variant disrupts the fourth helical transmembrane domain of the protein as well as its C-terminal cytoplasmic tail. Here we describe the clinical and ocular manifestations of a Brazilian patient with ODDD, report a novel frameshift homozygous variant in GJA1, and contribute to the ongoing expansion of scientific knowledge regarding ODDD.
Publicações recentes
Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.
A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.
Early-stage keratoconus in a case of oculodentodigital dysplasia.
Novel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss.
Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.
📚 EuropePMC125 artigos no totalmostrando 69
Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.
Frontiers in geneticsA GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.
Movement disorders : official journal of the Movement Disorder SocietyEarly-stage keratoconus in a case of oculodentodigital dysplasia.
Archivos de la Sociedad Espanola de OftalmologiaNovel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss.
Movement disorders clinical practiceOculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.
Annals of Indian Academy of NeurologyA novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Ophthalmic geneticsCalcium Regulation of Connexin Hemichannels.
International journal of molecular sciencesDeep neurological phenotyping in oculo-dento-digital syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Human genome variationRole of Cx43 on the Bone Cell Generation, Function, and Survival.
BioelectricityInherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
The Biochemical journalNovel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
Oral surgery, oral medicine, oral pathology and oral radiologyAbsence of Connexin 43 Results in Smaller Retinas and Arrested, Depolarized Retinal Progenitor Cells in Human Retinal Organoids.
Stem cells (Dayton, Ohio)Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
NeurologyCraniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome.
Advances in experimental medicine and biologyInterrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.
International journal of molecular sciencesConnexin 43-Mediated Gap Junction Communication Regulates Ameloblast Differentiation via ERK1/2 Phosphorylation.
Frontiers in physiologyDifferential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
International journal of molecular sciencesConnexin 43 contributes to phenotypic robustness of the mouse skull.
Developmental dynamics : an official publication of the American Association of AnatomistsHeterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Molecular visionOculo-dento-digital Dysplasia Presenting as Spastic Paraparesis Which Was Successfully Treated by Intrathecal Baclofen Therapy.
Internal medicine (Tokyo, Japan)Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
Frontiers in geneticsGeneralised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.
BMJ case reportsAstrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.
Frontiers in cellular neuroscienceAstrocytic Connexin43 Channels as Candidate Targets in Epilepsy Treatment.
BiomoleculesHypomyelinating leukodystrophies in adults: Clinical and genetic features.
European journal of neurologyCalmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects.
BiomoleculesEffects of Reduced Connexin43 Function on Mandibular Morphology and Osteogenesis in Mutant Mouse Models of Oculodentodigital Dysplasia.
Calcified tissue internationalHot cross bun sign and prominent cerebellar peduncle involvement in a patient with oculodentodigital dysplasia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEffects of reduced connexin43 function on skull development in the Cx43I130T/+ mutant mouse that models oculodentodigital dysplasia.
BoneOculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Case reports in ophthalmological medicineAn update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Expert review of neurotherapeutics[Genetic study of a pedigree affected with oculodentodigital dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsConnexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence.
BiomoleculesOculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
Acta dermato-venereologicaTwo novel GJA1 variants in oculodentodigital dysplasia.
Molecular genetics & genomic medicineA hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia.
Acta neurologica BelgicaOculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.
AJNR. American journal of neuroradiologyGJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
AJNR. American journal of neuroradiologyNovel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
Ophthalmic geneticsClinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.
Journal of glaucomaOculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
Annals of clinical and laboratory science[Neurological presentations of oculodentodigital dysplasia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaAutosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Cytogenetic and genome research[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema.
Clinical dysmorphologyMice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.
Journal of cell scienceRelative anterior microphthalmos in oculodentodigital dysplasia.
Indian journal of ophthalmologyA Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.
Iranian journal of child neurologyCohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.
Biology openOculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review.
Journal of movement disordersOculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
The International journal of prosthodonticsA novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
Oral diseasesConnexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research[Vismodegib for basal cell carcinoma: targeted therapy in case of locally advanced or metastasised disease].
Nederlands tijdschrift voor geneeskundeRole of connexins and pannexins during ontogeny, regeneration, and pathologies of bone.
BMC cell biologySpecific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Molecular biology of the cellOculodentodigital dysplasia.
Indian journal of ophthalmologyCase report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia.
BMC ophthalmologyOCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION.
Genetic counseling (Geneva, Switzerland)Connexins in skeletal muscle development and disease.
Seminars in cell & developmental biologyA case of familial syndactyly associated with eye and dental abnormalities.
JAAPA : official journal of the American Academy of Physician AssistantsA novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.
HeartRhythm case reportsOculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
Journal of Alzheimer's disease : JADEsco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.
Developmental dynamics : an official publication of the American Association of AnatomistsManipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
The Biochemical journalTypical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyMissense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.
Clinical dysmorphologyPrognostic impact of reduced connexin43 expression and gap junction coupling of neoplastic stromal cells in giant cell tumor of bone.
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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.
- Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.
- A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41748310mais citado
- Early-stage keratoconus in a case of oculodentodigital dysplasia.
- Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.
- A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
- Novel Mutation Causing Oculodentodigital Dysplasia: A Rare Cause of Spastic Paraparesis Not to Miss.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2710(Orphanet)
- OMIM OMIM:164200(OMIM)
- MONDO:0008111(MONDO)
- GARD:7239(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q17148148(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
