Raras
Buscar doenças, sintomas, genes...
Displasia cleidocraniana
ORPHA:1452CID-10 · Q74.0CID-11 · LD24.2YOMIM 119600DOENÇA RARA

Uma condição que afeta principalmente o desenvolvimento dos ossos e dentes. As características incluem clavículas (clavículas) subdesenvolvidas ou ausentes; anomalias dentárias; e atraso no fechamento dos espaços entre os ossos do crânio (fontanelas). Outras características podem incluir diminuição da densidade óssea (osteopenia), osteoporose, perda auditiva, anomalias ósseas das mãos e infecções recorrentes dos seios da face e dos ouvidos. O CCD é causado por alterações (mutações) no gene RUNX2 e a herança é autossômica dominante. Pode ser herdado de um dos pais afetados ou ocorrer devido a uma nova mutação no gene RUNX2. O manejo pode incluir procedimentos odontológicos, tratamento de infecções sinusais e de ouvido, uso de capacetes para atividades de alto risco e/ou cirurgia para problemas esqueléticos.

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Introdução

O que você precisa saber de cara

📋

Uma condição que afeta principalmente o desenvolvimento dos ossos e dentes. As características incluem clavículas (clavículas) subdesenvolvidas ou ausentes; anomalias dentárias; e atraso no fechamento dos espaços entre os ossos do crânio (fontanelas). Outras características podem incluir diminuição da densidade óssea (osteopenia), osteoporose, perda auditiva, anomalias ósseas das mãos e infecções recorrentes dos seios da face e dos ouvidos. O CCD é causado por alterações (mutações) no gene RUNX2 e a herança é autossômica dominante. Pode ser herdado de um dos pais afetados ou ocorrer devido a uma nova mutação no gene RUNX2. O manejo pode incluir procedimentos odontológicos, tratamento de infecções sinusais e de ouvido, uso de capacetes para atividades de alto risco e/ou cirurgia para problemas esqueléticos.

Publicações científicas
706 artigos
Último publicado: 2026 Mar 27

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.1
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q74.0
🇧🇷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
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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
28 sintomas
😀
Face
16 sintomas
🦷
Dentes
6 sintomas
🫁
Pulmão
4 sintomas
💪
Músculos
2 sintomas
👂
Ouvidos
2 sintomas

+ 34 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Frequência: 3/3
100%prev.
Anormalidade na facilidade de opor os ombros
Obrigatório (100%)
100%prev.
Bossas parietais
Obrigatório (100%)
100%prev.
Dente supranumerário
Muito frequente (99-80%)
100%prev.
Bossas frontais
Muito frequente (99-80%)
100%prev.
Ponte nasal deprimida
Frequente (79-30%)
95sintomas
Muito frequente (20)
Frequente (25)
Ocasional (17)
Sem dados (33)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.

HP:0003577
Frequência: 3/3100%
Anormalidade na facilidade de opor os ombrosAbnormal facility in opposing the shoulders
Obrigatório (100%)100%
Bossas parietaisParietal bossing
Obrigatório (100%)100%
Dente supranumerárioSupernumerary tooth
Muito frequente (99-80%)100%
Bossas frontaisFrontal bossing
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico706PubMed
Últimos 10 anos200publicações
Pico202234 papers
Linha do tempo
2026Hoje · 2026🧪 2021Primeiro ensaio clínico📈 2022Ano 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

RUNX2Runt-related transcription factor 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF prom

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (9)
Regulation of RUNX2 expression and activityTranscriptional regulation by RUNX2RUNX2 regulates chondrocyte maturationRUNX2 regulates bone developmentRUNX2 regulates osteoblast differentiation
MECANISMO DE DOENÇA

Cleidocranial dysplasia 1

A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
19.5 TPM
Glândula salivar
12.6 TPM
Nervo tibial
9.9 TPM
Intestino delgado
6.3 TPM
Próstata
6.2 TPM
OUTRAS DOENÇAS (2)
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromecleidocranial dysplasia 1
HGNC:10472UniProt:Q13950

Variantes genéticas (ClinVar)

244 variantes patogênicas registradas no ClinVar.

🧬 RUNX2: NM_001024630.4(RUNX2):c.790C>T (p.Gln264Ter) ()
🧬 RUNX2: NM_001024630.4(RUNX2):c.580+1G>A ()
🧬 RUNX2: NM_001024630.4(RUNX2):c.380C>T (p.Pro127Leu) ()
🧬 RUNX2: NM_001024630.4(RUNX2):c.569G>T (p.Arg190Leu) ()
🧬 RUNX2: NM_001024630.4(RUNX2):c.653A>C (p.Lys218Thr) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 10 variantes classificadas pelo ClinVar.

7
3
Patogênica (70.0%)
VUS (30.0%)
VARIANTES MAIS SIGNIFICATIVAS
MSX2: NM_002449.5(MSX2):c.473dup (p.Arg159fs) [Likely pathogenic]
MSX2: NM_002449.5(MSX2):c.380-2A>T [Likely pathogenic]
CBFB: NM_022845.3(CBFB):c.283-1039_400-7568del [Pathogenic]
CBFB: NM_022845.3(CBFB):c.78+1G>T [Pathogenic]
MSX2: NM_002449.5(MSX2):c.505_508dup (p.Ala170fs) [Pathogenic]

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 — Displasia cleidocraniana

🗺️

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.

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Publicações mais relevantes

Timeline de publicações
301 papers (10 anos)
#1

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Clinical genetics2026 Mar 08

A deep-intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo-exon inclusion into the mRNA. The pseudo-exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.

#2

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Genes2026 Jan 27

Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: "What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?". After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Genetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.

#3

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

Congenital anomalies2026

Cleidocranial dysplasia is a congenital malformation syndrome characterized by skeletal and dental abnormalities as well as distinctive craniofacial features. Most previous reports have relied on two-dimensional radiographs, and no comprehensive three-dimensional investigations have been conducted. This study aimed to provide a detailed overview of craniofacial features in patients with cleidocranial dysplasia using computed tomography. Craniofacial characteristics of 11 Japanese patients were assessed using three-dimensional computed tomography reconstructions. Qualitative evaluations were performed across three regions: cranial, nasomaxillary complex, and mandibular. In the cranial region, all patients presented Wormian bones and hypoplastic mastoid processes. In the nasomaxillary complex, hypoplastic nasal bones, atypical piriform aperture contours, and discontinuous or downward-bent zygomatic arches were frequently observed. In the mandibular region, atypical sigmoid notch morphology, nearly parallel-sided ascending rami, and abnormally rounded mandibular angles were identified. Novel findings included aplastic/hypoplastic styloid processes, thin-appearing orbital walls, downward displacement of the temporal process of the maxillary bone, and atypical coronoid process morphology. Bilateral expression of all craniofacial traits was also newly confirmed. To our knowledge, this is the first comprehensive three-dimensional study of craniofacial morphology in cleidocranial dysplasia. These observations provide new insights into the pathophysiology and developmental mechanisms underlying craniofacial anomalies in affected patients.

#4

Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2026 Jan 08

Cleidocranial dysplasia is a rare genetic condition negatively impacting skeletal development. Clinical guidelines for patients, their family members, and clinicians on the diagnosis, treatment, and management of this disease are lacking. The aim of this study was to align expert opinion on standard of care medical recommendations for patients with cleidocranial dysplasia, primarily for adults and children (≥2 years of age). A modified Delphi panel comprised of a three-round survey was used to determine consensus among a multidisciplinary team of thirteen experts with experience treating patients with cleidocranial dysplasia. Statements for Round 1 were generated from a targeted literature review and received input from a steering committee of two experts within the panel. Expert discussion held after Round 2 helped refine statements for Round 3; the steering committee also reviewed statements before dissemination in each round. The consensus threshold was pre-defined as ≥70% agreement or disagreement for Likert-scale statements or ≥70% of experts selecting the same response for a multiple-choice option. For statements wherein consensus was measured, 79% (n/N=26/33), 91% (n/N=21/23), and 100% (n/N=12/12) of statements reached consensus, respectively, in Round 1, Round 2, and Round 3. Overall, consensus was reached on 37 standard of care recommendations for patients with cleidocranial dysplasia: 9 regarding diagnosis, 24 regarding treatment and management, consisting of 7 dental/orthodontic and 17 other medical (non-dental/orthodontic), and 4 regarding care providers. The expert consensus reached in this panel informs the first comprehensive best practice guidelines for patients, their family members, and healthcare providers to diagnose, treat, and manage the dental/orthodontic and other medical complications of cleidocranial dysplasia. Cleidocranial dysplasia is a rare bone and dental disease that lacks healthcare guidelines for diagnosis, treatment, and management. We collected opinions from thirteen experts across different specialties to establish standard of care recommendations. Feedback was gathered through three rounds of surveys wherein experts reviewed statements about cleidocranial dysplasia. Statements were edited based on feedback until majority agreement was reached, with the final recommendations covering diagnosis, dental/orthodontic and other medical treatment and management, and care providers. Ultimately, patients with cleidocranial dysplasia, their families, and clinicians may use this paper as a resource to help improve quality of care.

#5

Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics2026 Mar

Cleidocranial dysplasia (CCD) often results in supernumerary teeth, impacted teeth, and malocclusions. Treatment options include orthodontics to erupt the impacted dentition in the oral cavity or prosthodontic replacement of impacted teeth. This study assesses whether patients with CCD who have certain malocclusion traits have worse oral health-related quality of life (OHRQoL) than those without these malocclusions, and whether patients with CCD who received orthodontic treatment have better OHRQoL than those treated with prosthodontics. Patients with CCD aged 15 years and older underwent an oral examination and completed the oral health impact profile-14 survey. Independent-samples t tests were performed to compare the oral health impact profile-14 scores among patients with and without specific oral findings. Sixty-one patients participated in this study. Those with posterior crossbites experienced significantly worse OHRQoL in the domain of physical pain (P = 0.015; 95% confidence interval [CI] = 0.316-2.750). For those with anterior open bites, a significantly worse OHRQoL was observed in the domain of handicap (P = 0.046; 95% CI, 0.027-2.919). Anterior crossbites resulted in statistically significantly worse OHRQoL in the functional limitation domain (P = 0.027; 95% CI, 0.149-2.373). Lastly, patients who received prosthodontic treatment reported significantly worse OHRQoL (P = 0.037; 95% CI, 0.685-21.015) and higher scores in physical pain (P = 0.038; 95% CI, 0.114-3.981), physical disability (P = 0.005; 95% CI, 0.872-4.543), and social disability (P = 0.020; 95% CI, 0.091-3.398). Patients with CCD who have anterior crossbites, posterior crossbites, or anterior open bites have worse OHRQoL in specific domains compared with those without these malocclusions. In addition, patients who underwent prosthodontics had worse OHRQoL than those who underwent orthodontics.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC484 artigos no totalmostrando 197

2026

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Clinical genetics
2026

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Genes
2026

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

Congenital anomalies
2026

Early prenatal detection of autosomal dominant skeletal dysplasia using first-trimester ultrasound and cell-free fetal DNA screening: three case reports.

Hong Kong medical journal = Xianggang yi xue za zhi
2026

Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2026

Smart cranioplasty in cleidocranial dysplasia: bridging robotics and neurotechnology for precision reconstruction.

Annals of medicine and surgery (2012)
2025

Functional impact of pathogenic mutations in the Runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2026

Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2025

Clinical and Radiological Spectrum in Cleidocranial Dysplasia: A Case Series.

Current health sciences journal
2026

Anatomic assessment of palatal temporary skeletal anchorage devices insertion sites among patients with cleidocranial dysplasia vs controls: A retrospective cone-beam computed tomography analysis.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2025

[Research progress in Runt-related transcription factor 2 regulation of bone remodeling and tooth eruption].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2026

Impacted second premolars in cleidocranial dysplasia: Three-dimensional position and morphology characteristics and factors affecting the success rate of closed eruption.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2025

A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report.

Frontiers in pediatrics
2025

Cleidocranial Dysplasia: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity.

Clinical case reports
2025

A Child With Cleidocranial Dysplasia Presenting With Seizure Disorder.

Cureus
2025

Cleidocranial Dysplasia With Multiple Impacted Teeth and Dentigerous Cysts: A Case Report of a Rare Entity.

Cureus
2025

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.

Frontiers in genetics
2025

[Skeletal dysplasias-Multidisciplinary orthopedics].

Orthopadie (Heidelberg, Germany)
2025

RUNX2 is essential for maintaining synchondrosis chondrocytes and cranial base growth.

Bone research
2025

Unveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; "Echoes of the Past".

Journal of clinical ultrasound : JCU
2025

Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology.

Proceedings of the National Academy of Sciences of the United States of America
2025

Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report.

World journal of clinical cases
2025

Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis.

Genes &amp; diseases
2025

Disturbances of Dental Development in Cleidocranial Dysplasia.

The Journal of craniofacial surgery
2025

Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview.

Genes
2025

Cbfβ: A key regulator in skeletal stem cell differentiation, bone development, and disease.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.

Clinical genetics
2025

Neonatal Familiar Cleidocranial Dysplasia: A Case Report.

The American journal of case reports
2025

Accuracy and user experience of dental diagnosis of a patient with cleidocranial dysplasia using immersive virtual reality and cone-beam computed tomography multiplanar reconstructions.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2025

Exploring the complexities of cleidocranial dysplasia: Dental anomalies and treatment interventions.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2024

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Journal of translational medicine
2024

A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia.

Heliyon
2024

Cleidocranial Dysplasia Presenting With Mixed Dentition in a 28-Year-Old Male: A Case Report.

Cureus
2024

Navigating challenges: Cleidocranial dysplasia and complexities in transvenous pacemaker implantation.

Radiology case reports
2024

Clinical and Radiological Insights of Cleidocranial Dysplasia: A Case Report of a Rare Medical Condition.

Cureus
2024

Clinicoradiological findings in a case of cleidocranial dysplasia.

BMJ case reports
2024

A Rare Case of Cleidocranial Dysplasia Causing Unilateral Lung Herniation in the Setting of an Acute Viral Infection.

Cureus
2024

Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).

Molecular medicine reports
2024

Imaging characteristics of gubernaculum tracts in patients with cleidocranial dysplasia: a computed tomography study.

Oral surgery, oral medicine, oral pathology and oral radiology
2024

Three-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia.

BMC oral health
2024

Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history.

Heliyon
2024

Xenopus tropicalis osteoblast-specific open chromatin regions reveal promoters and enhancers involved in human skeletal phenotypes and shed light on early vertebrate evolution.

Cells &amp; development
2025

Cleidocranial dysplasia associated with dentigerous cyst-review of literature and case report of two siblings.

Indian journal of pathology &amp; microbiology
2024

Non-syndromic Bilateral Supernumerary Teeth in the Primary and Secondary Dentition: A Rare Case Report.

Cureus
2024

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Biology
2024

Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.

Cureus
2024

Familial Cleidocranial Dysplasia: A Diagnostic Challenge.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.

Clinical case reports
2025

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

An Oral Odyssey: Navigating the Complexity of Impacted Parapremolars and Paramolars in the Oral Landscape!

Cureus
2024

Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Pediatric research
2023

A Clinical Odyssey Involving Cleidocranial Dysplasia: Report of a Rare Case.

Cureus
2024

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.

Clinical genetics
2023

Impact of Mechanical Strain and Nicotinamide on RUNX2-Deficient Osteoblast Mimicking Cleidocranial Dysplasia.

International journal of molecular sciences
2023

Cleidocranial Dysplasia: A Rare Case Report.

Journal of pharmacy &amp; bioallied sciences
2023

Peptidylarginine deiminase 2 plays a key role in osteogenesis by enhancing RUNX2 stability through citrullination.

Cell death &amp; disease
2023

[Early treatment principles of tooth replacement disorders associated with hereditary oral diseases].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2023

Dental characteristics of patients with four different types of skeletal dysplasias.

Clinical oral investigations
2023

Functional consequences of C-terminal mutations in RUNX2.

Scientific reports
2023

Genotype-phenotype analysis of selective failure of tooth eruption-A systematic review.

Clinical genetics
2024

Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.

Archives of disease in childhood. Fetal and neonatal edition
2023

Glutathione limits RUNX2 oxidation and degradation to regulate bone formation.

JCI insight
2023

Expression of FBXW11 in normal and disease-associated osteogenic cells.

Journal of cellular and molecular medicine
2024

RUNX2 mutation inhibits the cellular senescence of dental follicle cells via ERK signalling pathway.

Oral diseases
2023

Restoration of a Maxillary Anterior Defect With a Rotational Path Removable Partial Denture: Clinical Report of a Patient With Cleidocranial Dysplasia.

Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995)
2023

Amyloid-mediated remineralization for tooth hypoplasia of cleidocranial dysplasia.

Frontiers in cellular and infection microbiology
2022

A Three-dimensional Analysis of Nasopharyngeal Airway Characteristics in Subjects with Cleidocranial Dysplasia: A CBCT Study.

International journal of clinical pediatric dentistry
2023

[Analysis of clinical phenotypes and genetic variants in two children with sporadic cleidocranial dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Suspected Endodontic Failure in a Patient with Cleidocranial Dysplasia: A Case Report.

Journal of endodontics
2023

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.

G3 (Bethesda, Md.)
2023

Inhibition of miR338 rescues cleidocranial dysplasia in Runx2 mutant mice partially via the Hif1a-Vegfa axis.

Experimental &amp; molecular medicine
2023

A novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.

European journal of oral sciences
2022

Detection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study.

BMC oral health
2022

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.

Molecular genetics and metabolism
2023

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

Radiology case reports
2022

Different Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs.

International journal of molecular sciences
2022

[Analysis of clinical phenotype and genetic variant in a Chinese pedigree affected with cleidocranial dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Conservative orthodontic and multidisciplinary approaches for patients with cleidocranial dysplasia in late adolescence or young adulthood.

Journal of stomatology, oral and maxillofacial surgery
2022

Cleidocranial dysplasia-A case report of incidentally found and lately diagnosed disorder.

Clinical case reports
2023

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Journal of medical genetics
2022

Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.

Stem cell research &amp; therapy
2022

A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.

Cells
2022

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

JBMR plus
2022

RUNX2 Nonsense Mutation Associated with Cleidocranial Dysplasia with Unusual Dental Features.

Journal of dentistry for children (Chicago, Ill.)
2022

A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia.

Genes
2022

Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia - Case report.

Annals of medicine and surgery (2012)
2022

An overview of the intraoral features and craniofacial morphology of growing and adult Japanese cleidocranial dysplasia subjects.

European journal of orthodontics
2022

Clinical, radiographic, and genetic observations in 2 families with cleidocranial dysplasia.

General dentistry
2022

Newborn with cleidocranial dysplasia.

Skeletal radiology
2022

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

Journal of applied oral science : revista FOB
2022

Fisetin: An Integrated Approach to Identify a Strategy Promoting Osteogenesis.

Frontiers in pharmacology
2022

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.

Journal of developmental biology
2022

Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America.

Annals of medicine and surgery (2012)
2022

RUNX2 Regulates Osteoblast Differentiation via the BMP4 Signaling Pathway.

Journal of dental research
2022

Cleidocranial dysplasia: a case report and gene mutation analysis.

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2022

[Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Induced pluripotent stem cells from homozygous Runx2-deficient mice show poor response to vitamin D during osteoblastic differentiation.

Medical molecular morphology
2023

METTL5 regulates cranial suture fusion via Wnt signaling.

Fundamental research
2022

Does An Osteotomy Performed in Congenital Pseudarthrosis of the Tibia Heal?

Journal of pediatric orthopedics
2022

[Clinical characteristics and comprehensive treatment of patients with cleidocranial dysplasia].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2022

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

Genes &amp; genomics
2022

Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key.

BMJ case reports
2022

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Global medical genetics
2023

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Hypoplasia of medial pterygoid process in sphenoid bone relates to decreased mesenchymal cell proliferation in the Runx2-haploinsufficient cleidocranial dysplasia mouse model.

Archives of oral biology
2022

Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.

Clinica chimica acta; international journal of clinical chemistry
2021

Interdisciplinary treatment of patients with cleidocranial dysplasia and multiple unerupted permanent teeth.

Journal of clinical orthodontics : JCO
2021

Clinical-radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series.

Clinical case reports
2021

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Medicina (Kaunas, Lithuania)
2021

FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.

Molecular syndromology
2022

Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells.

Odontology
2021

Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.

Medicine
2022

Appropriateness of standard cephalometric norms for the assessment of dentofacial characteristics in patients with cleidocranial dysplasia.

Dento maxillo facial radiology
2021

An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation.

Frontiers in genetics
2021

Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review.

JBJS case connector
2021

Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.

International journal of molecular sciences
2021

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.

Frontiers in genetics
2021

Radiographic features of cleidocranial dysplasia on panoramic radiographs.

Imaging science in dentistry
2022

Intraparenchymal hemorrhage in a neonate with cleidocranial dysplasia.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Cleidocranial dysostosis: a case report with clinical illustration.

The Pan African medical journal
2021

[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

A Prosthodontic Approach as a Complementary Solution for a Complicated Orthodontic Treatment of a Patient with Cleidocranial Dysplasia.

Case reports in dentistry
2021

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Orphanet journal of rare diseases
2021

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.

Iranian biomedical journal
2023

Multidisciplinary prosthetic rehabilitation of an adult patient with cleidocranial dysplasia by using a rapid external distraction device: A clinical report.

The Journal of prosthetic dentistry
2021

Imaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review.

Revista cientifica odontologica (Universidad Cientifica del Sur)
2022

Hypophosphatasia and cleidocranial dysplasia-a case report and review of the literature: the role of the neurosurgeon.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

American journal of medical genetics. Part A
2021

Reconstruction Using Free Vascularized Fibular Grafts after Wide Resection of Humerus Chondrosarcoma in a Patient with Cleidocranial Dysplasia.

Case reports in orthopedics
2021

Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.

Bone
2021

Identification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.

The Journal of craniofacial surgery
2021

Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants-a clinical report.

International journal of implant dentistry
2021

An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia.

Stem cell research
2020

Dental Prosthetic Treatments in Cleidocranial Dysplasia: Case Report and Literature Review.

Case reports in dentistry
2020

Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.

Clinical case reports
2021

Orthognathic Surgery in Cleidocranial Dysplasia.

The Journal of craniofacial surgery
2021

Med23 Regulates Sox9 Expression during Craniofacial Development.

Journal of dental research
2021

Nicotinamide Improves Delayed Tooth Eruption in Runx2+/- Mice.

Journal of dental research
2021

Effect of periostin silencing on Runx2, RANKL and OPG expression in osteoblasts.

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie
2020

Induction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions.

In vitro cellular &amp; developmental biology. Animal
2020

VGLL4 promotes osteoblast differentiation by antagonizing TEADs-inhibited Runx2 transcription.

Science advances
2020

CMT4J, parkinsonism and a new FIG4 mutation.

Parkinsonism &amp; related disorders
2021

A case report of cleidocranial dysplasia: A noninvasive approach.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2020

Teeth Impaction and Structural Teeth Anomalies.

Seminars in musculoskeletal radiology
2020

[The Pierre Marie-Sainton syndrome or cleidocranial dysplasia].

Revue medicale de Liege
2021

Nuss procedure for pectus excavatum in a patient with cleidocranial dysplasia.

General thoracic and cardiovascular surgery
2021

Sella turcica morphology in patients with genetic syndromes: A systematic review.

Orthodontics &amp; craniofacial research
2020

Audiological evaluation of patients with cleidocranial dysplasia (CCD).

European review for medical and pharmacological sciences
2020

Delayed Eruption In Cleidocranial Dysplasia.

Journal of Ayub Medical College, Abbottabad : JAMC
2020

CAGE-seq analysis of osteoblast derived from cleidocranial dysplasia human induced pluripotent stem cells.

Bone
2020

RUNX2-modifying enzymes: therapeutic targets for bone diseases.

Experimental &amp; molecular medicine
2020

Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Delayed tooth movement in Runx2+/- mice associated with mTORC2 in stretch-induced bone formation.

Bone reports
2021

Posterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Oral Rehabilitation with Removable Partial Denture of a Patient with Cleidocranial Dysplasia.

Case reports in dentistry
2020

Additional Assessment of Developed Occipital Sinus Using Intraoperative Indocyanine Green Videoangiography for a Safe Foramen Magnum Decompression-Technical Case Report.

Operative neurosurgery (Hagerstown, Md.)
2020

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Clinical genetics
2020

A RUNX2 stabilization pathway mediates physiologic and pathologic bone formation.

Nature communications
2020

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Parkinsonism &amp; related disorders
2020

Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.

The Journal of craniofacial surgery
2020

[When to think about pediatric congenital pseudoarthrosis of the clavicle? Presentation of 2 cases].

Archivos argentinos de pediatria
2020

Public Awareness of Cleidocranial Dysplasia After Season Releases of Stranger Things.

JAMA otolaryngology-- head &amp; neck surgery
2020

Management of Two Cases of Supernumerary Teeth.

Pediatric dentistry
2020

New Function of RUNX2 in Regulating Osteoclast Differentiation via the AKT/NFATc1/CTSK Axis.

Calcified tissue international
2021

Molecular Genetics of Cleidocranial Dysplasia.

Fetal and pediatric pathology
2020

Cleidocranial dysplasia with growth hormone deficiency: a case report.

BMC pediatrics
2019

Case series of cleidocranial dysplasia: Radiographic follow-up study of delayed eruption of impacted permanent teeth.

Imaging science in dentistry
2020

Upper Limb Ischaemia Caused by Cleidocranial Dysostosis.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2020

Molecular Mechanism of Runx2-Dependent Bone Development.

Molecules and cells
2019

Implants Placement in Contact with Dental Tissue: A Potential Paradigm Shift? Systematic Literature Review.

European journal of dentistry
2019

[Cleidocranial dysplasia: a case report and gene mutation analysis].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2019

Cleidocranial Dysplasia in a 10-year-old Child: A Case Report.

International journal of clinical pediatric dentistry
2019

[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants].

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

Full-mouth rehabilitation of a patient with cleidocranial dysplasia using immediately loaded basal implant-supported fixed prostheses: A case report.

International journal of surgery case reports
2020

Three-dimensional evaluation of morphology and position of impacted supernumerary teeth in cases of cleidocranial dysplasia.

Congenital anomalies
2019

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Journal of human genetics
2020

Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.

Cell death and differentiation
2019

Identification of RUNX2 variants associated with cleidocranial dysplasia.

Hereditas
2019

Imaging of Thoracic Wall Abnormalities.

Korean journal of radiology
2019

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Clinical genetics
2019

Case of odontoma-related infection in a cleidocranial dysplasia.

BMJ case reports
2019

Combined Orthodontic-Surgical Sequential Treatment of Cleidocranial Dysplasia: A Case Report With 7-Year Follow-up and Review of the Literature.

Annals of plastic surgery
2019

Multiple supernumerary teeth in a nonsyndromic association: Rare presentation in three siblings.

Journal of oral and maxillofacial pathology : JOMFP
2019

The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis.

International journal of molecular sciences
2019

Regulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2.

International journal of molecular sciences
2019

Cleidocranial dysplasia syndrome with epilepsy: a case report.

BMC pediatrics
2019

The Treatment Strategy of Cleidocranial Dysplasia: Combined Orthodontic and Orthognathic Treatment.

The Journal of craniofacial surgery
2019

Bilateral Nonsyndromic Dentigerous Cyst in a 10-Year-Old Child: A Case Report and Literature Review.

International journal of applied &amp; basic medical research
2019

Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.

Archives of oral biology
2019

Multidisciplinary Implant Rehabilitation of a Patient with Cleidocranial Dysostosis: A Journey from Age 13 to 21.

Journal of prosthodontics : official journal of the American College of Prosthodontists
2018

Bilateral Dentigerous Cyst in Impacted Mandibular Third Molars: A Case Report.

Cureus
2018

Multiple impacted permanent teeth, an indicator for early detection of hypoparathyroidism: A rare case report.

Journal of family medicine and primary care
2019

microRNA-31 inhibition partially ameliorates the deficiency of bone marrow stromal cells from cleidocranial dysplasia.

Journal of cellular biochemistry
2018

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature.

Orphanet journal of rare diseases
2019

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.

Journal of clinical research in pediatric endocrinology
2019

Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells.

Human molecular genetics
2018

Clinical and radiological findings in a severe case of cleidocranial dysplasia.

BMJ case reports
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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.

  1. Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
    Clinical genetics· 2026· PMID 41797213mais citado
  2. The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
    Genes· 2026· PMID 41751524mais citado
  3. Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.
    Congenital anomalies· 2026· PMID 41645457mais citado
  4. Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41504382mais citado
  5. Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.
    American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics· 2026· PMID 41410626mais citado
  6. Polyglutamine homorepeat regulates Runx2 condensation and cellular localization in a KPNA3-dependent manner.
    Cell Rep· 2026· PMID 41903133recente
  7. Comment on: "Anatomic assessment of palatal temporary skeletal anchorage devices insertion sites among patients with cleidocranial dysplasia vs controls: A retrospective cone-beam computed tomography analysis".
    Am J Orthod Dentofacial Orthop· 2026· PMID 41887811recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1452(Orphanet)
  2. OMIM OMIM:119600(OMIM)
  3. MONDO:0007340(MONDO)
  4. GARD:6118(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q781618(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

Displasia cleidocraniana
Compêndio · Raras BR

Displasia cleidocraniana

ORPHA:1452 · MONDO:0007340
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Not applicable
CID-10
Q74.0 · Outras malformações congênitas do(s) membro(s) superiores, inclusive da cintura escapular
CID-11
Início
Antenatal, Neonatal
Prevalência
0.1 (Worldwide)
MedGen
UMLS
C0008928
EuropePMC
Wikidata
Wikipedia
Papers 10a
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