Raras
Buscar doenças, sintomas, genes...
Síndrome progeroide-surdez-hipoplasia mandibular
ORPHA:363649CID-10 · E34.8OMIM 615381DOENÇA RARA

Doença rara, genética, de envelhecimento precoce, caracterizada por surdez neurossensorial, diminuição generalizada do tecido adiposo subcutâneo (embora com deposição aumentada na região do tronco) observada desde a infância, esclerodermia e dismorfias faciais que incluem olhos proeminentes, nariz em bico, boca pequena, dentes apinhados e hipoplasia mandibular. Outras características associadas incluem atraso estaturoponderal, contraturas articulares, telangiectasias, hipogonadismo (com ausência de desenvolvimento mamário no sexo feminino), criptorquidia, atrofia do músculo esquelético, hipertrigliceridemia e diabetes mellitus/resistência à insulina.

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Introdução

O que você precisa saber de cara

📋

Doença rara, genética, de envelhecimento precoce, caracterizada por surdez neurossensorial, generalizada do tecido adiposo subcutâneo (embora com deposição aumentada na região do tronco) observada desde a infância, esclerodermia e dismorfias aparentes que incluem olhos proeminentes, nariz em bico, boca pequena, dentes apinhados e hipoplasia mandibular. Outras características associadas incluem atraso estaturoponderal, contraturas articulares, telangiectasias, hipogonadismo (com ausência de desenvolvimento mamário no sexo feminino), criptorquidia, atrofia do músculo esquelético, hipertrigliceridemia e diabetes mellitus/resistência à insulina.

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
21
pacientes catalogados
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E34.8
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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
4 sintomas
🫃
Digestivo
3 sintomas
📏
Crescimento
3 sintomas
💪
Músculos
2 sintomas
😀
Face
2 sintomas
🧬
Pele e cabelo
2 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Apinhamento dentário
Frequência: 4/4
100%prev.
Lipodistrofia
Frequência: 4/4
100%prev.
Contratura articular
Frequência: 4/4
100%prev.
Criptorquidia
Frequência: 3/3
100%prev.
Deficiência auditiva neurossensorial
Frequência: 4/4
100%prev.
Hipogonadismo masculino
Frequência: 3/3
27sintomas
Muito frequente (13)
Frequente (7)
Ocasional (1)
Sem dados (6)

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

Apinhamento dentárioDental crowding
Frequência: 4/4100%
LipodistrofiaLipodystrophy
Frequência: 4/4100%
Contratura articularJoint contracture
Frequência: 4/4100%
CriptorquidiaCryptorchidism
Frequência: 3/3100%
Deficiência auditiva neurossensorialSensorineural hearing impairment
Frequência: 4/4100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025142 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

POLD1DNA polymerase delta catalytic subunitDisease-causing germline mutation(s) inTolerante
FUNÇÃO

As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). Req

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Cytosolic iron-sulfur cluster assembly
MECANISMO DE DOENÇA

Colorectal cancer 10

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
59.1 TPM
Testículo
30.1 TPM
Tireoide
22.1 TPM
Baço
21.6 TPM
Útero
20.2 TPM
OUTRAS DOENÇAS (5)
mandibular hypoplasia-deafness-progeroid syndromeimmunodeficiency 120Polymerase proofreading-related adenomatous polyposisfamilial colorectal cancer type X
HGNC:9175UniProt:P28340

Variantes genéticas (ClinVar)

629 variantes patogênicas registradas no ClinVar.

🧬 POLD1: NM_002691.4(POLD1):c.1946C>A (p.Thr649Asn) ()
🧬 POLD1: NM_002691.4(POLD1):c.365_377del (p.Val122fs) ()
🧬 POLD1: NM_002691.4(POLD1):c.76G>T (p.Asp26Tyr) ()
🧬 POLD1: NM_002691.4(POLD1):c.-1-12C>A ()
🧬 POLD1: NM_002691.4(POLD1):c.2396T>A (p.Phe799Tyr) ()
Ver todas no ClinVar

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 progeroide-surdez-hipoplasia mandibular

🗺️

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
0 papers (10 anos)
#1

Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.

Frontiers in pediatrics2026

This study aimed to investigate craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with different malocclusion types. A retrospective cross-sectional analysis study was conducted at Chengdu Second People's Hospital from 2023 to 2024. A total of 299 children diagnosed with OSAHS (aged 10-12 years) were included. Craniofacial structures were assessed using Jarabak and Ricketts methods. Patients were divided by malocclusion type: Class II (n = 150, 56.7% male, mean age 11.2 ± 0.6) and Class III (n = 149, 50.3% male, mean age 11.4 ± 0.8). Group differences in cephalometric parameters were compared using independent samples t-tests and Mann-Whitney U tests, as appropriate. Significant differences were found between groups. Compared to Class II, Class III patients had lower ANB angle (-2.8 ± 2.6° vs. 5.6 ± 1.9°, Cohen's d = 1.23), Wits appraisal (-2.9 ± 3.7 mm vs. 2.6 ± 0.7 mm, Cohen's d = 2.02), SN:GoMe (103.1 ± 6.0% vs. 106.7 ± 9.0%, Cohen's d = 0.48), MP/FH (32.9 ± 2.99° vs. 37.3 ± 2.65°, Cohen's d = 1.57), Xi-Pm/DC-Xi (29.3 ± 2.1° vs. 24.6 ± 3.1°, Cohen's d = 1.81), and ANS-Xi-Pm (47.8 ± 2.9° vs. 50.7 ± 2.4°, Cohen's d = 1.11) (all P < 0.05). Class III patients showed higher S-Ar:Ar-Go (75.9 ± 7.2% vs. 80.9 ± 13.0%, Cohen's d = 0.48), NP/FH (88.1 ± 2.9° vs. 83.1 ± 1.86°, Cohen's d = 2.14), Pt-Gn/Ba-N (92.2 ± 2.1° vs. 79.6 ± 2.4°, Cohen's d = 5.44), and Hy-C3 distance (5.8 ± 0.9 mm vs. 3.4 ± 0.4 mm, Cohen's d = 3.26) (all P < 0.05). No significant differences were observed in other parameters (N-S-Ar, S-Ar-Go; P > 0.05). Distinct craniofacial skeletal patterns exist in pediatric OSAHS patients with different malocclusions. Class III patients demonstrate mandibular growth restriction with compensatory protrusion, while Class II patients display high-angle, long-face morphology with clockwise growth rotation. These findings have important clinical implications for individualized orthodontic and surgical planning in the management of pediatric OSAHS, highlighting the need for early assessment of craniofacial structure in affected children.

#2

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international2026

Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine. We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord. In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.

#3

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

International journal of molecular sciences2026 Feb 16

Treacher Collins syndrome (TCS) is a rare disorder within the group of mandibulofacial dysostoses, occurring in 1 in 50,000 live births. It is characterized by anomalies in the maxillary, mandibular, and stapes bones, among others. TCS is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, and POLR1B genes with autosomal dominant or recessive inheritance patterns. Genetic data from Latin American populations remain scarce. Eleven patients from three different families were recruited. Whole-exome sequencing (WES) was performed on the probands to identify genetic variants, followed by Sanger sequencing for variant validation and familial segregation analysis. Finally, three-dimensional protein structures of wild-type and mutant proteins were predicted. In Family 1, a heterozygous pathogenic splice-site variant in the TCOF1 gene, c.4345 + 1 G > A, was identified and inherited from her mother. In Family 2, a heterozygous pathogenic variant in the TCOF1 gene, c.226_227insC (p.R77fs), was identified and inherited from the paternal lineage. In Family 3, a heterozygous pathogenic POLR1D variant, c.290_291delAG (p.G99fs), was identified among multiple affected relatives; direct parent-of-origin could not be established due to unavailability of one parent, but segregation supports autosomal dominant transmission across three generations. All findings were validated by Sanger sequencing. Our findings highlight the utility of WES for the molecular diagnosis of TCS and underscore the importance of including underrepresented populations in genetic studies to improve diagnosis, genetic counseling, and perinatal planning in at-risk pregnancies.

#4

Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

Frontiers in ophthalmology2026

To describe our findings in a rare case of secondary triple-hit diffuse large B-cell lymphoma (DLBCL) with choroidal and central nervous system (CNS) involvement, presenting with bilateral serous retinal detachments (SRD) and ophthalmoplegia. A 44-year-old male presented with a 4-month history of bilateral vision loss, right-sided headaches radiating to the periorbital area, and oral numbness within the mental nerve distribution. Review of systems was notable for unintentional 25-pound weight loss and chronic back pain. Corrected visual acuities were 20/150 in the right eye and 20/50 in the left. External exam showed remarkable results for right-sided ptosis, diminished pupillary light response without afferent pupillary defect, and limitation of extraocular movements in all gazes. Fundus examination showed bilateral, multifocal SRD with associated increased choroidal thickness. Systemic workup showed right-sided prominence of the cavernous sinus, heterogeneous bone marrow signal throughout the spine, splenomegaly, retroperitoneal lymphadenopathy, and a hypodense hepatic lesion. Cerebrospinal fluid analysis revealed elevated white blood cell count and protein concentration. A lymph node biopsy revealed DLBCL with Bcl6, Bcl2, and c-Myc rearrangements. Treatment with combined intrathecal and systemic chemotherapy resulted in significant improvement in both systemic and ocular symptoms. This case underscores the importance of considering secondary lymphoma in patients presenting with bilateral SRD and neuro-ophthalmic deficits, even in the absence of known systemic malignancy. The combination of cavernous sinus syndrome with concomitant mandibular nerve involvement should prompt CNS and systemic evaluation for hematologic malignancy. Patients with triple-hit DLBCL phenotype may achieve dramatic visual recovery following modern targeted chemoimmunotherapy.

#5

Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.

Animals : an open access journal from MDPI2026 Mar 07

Feline pulmonary carcinomas are rare and often carry a poor prognosis, particularly when associated with feline lung-digit syndrome. We report a cat with primary pulmonary carcinoma and extensive metastases-including digits, pleura, mandible, scapula, spleen, skeletal muscle, and distant lymph nodes-supporting the broader "MODAL syndrome" concept. Palliative therapy with toceranib phosphate and meloxicam achieved prolonged survival and excellent quality of life, with no adverse effects despite dose escalation. Rapid progression after discontinuation suggests a role for toceranib in delaying tumour growth. Immunohistochemistry revealed c-kit expression in one metastatic lesion but not in the primary tumour or most metastases, highlighting intratumoral heterogeneity and the complexity of targeted therapy. The observed benefit likely reflects toceranib's multi-target activity (VEGFR2, PDGFR), impacting angiogenesis and tumour progression. This case represents the first report of toceranib phosphate use in feline pulmonary carcinoma and underscores its potential as a palliative option.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 199

2026

Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.

Frontiers in pediatrics
2026

Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

Frontiers in ophthalmology
2026

Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.

Animals : an open access journal from MDPI
2026

Factors associated with single versus multiple supernumerary teeth in a paediatric population: a cross-sectional study.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2026

Dynamics of salivary stress-related biomarkers in children with malocclusion and risk for sleep problems and sleep-disordered breathing: a cross-sectional study.

European journal of orthodontics
2026

Unilateral port wine stain on the face: a case report and review.

Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHD
2026

Multiple Impacted Supernumerary Teeth in a Non-syndromic Class III Malocclusion Patient: A Case Report.

Cureus
2026

Occurrence of Parafunctional Habits in Adults with and without Temporomandibular Disorder: A Cross-Sectional Descriptive Study.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2026

Effects of Andresen Activator on Pharyngeal Airway Volume in Growing Patients With Obstructive Sleep Apnea Syndrome: CBCT Evaluation.

International journal of dentistry
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.

Cancer diagnosis &amp; prognosis
2026

Exploring the role of TWIST1 in malocclusion and craniofacial morphology.

Frontiers in physiology
2026

Do Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?

The Journal of craniofacial surgery
2026

Clinical and craniofacial predictors of patient-reported and respiratory outcomes with oral appliance therapy.

Sleep medicine
2026

Advances in the Diagnosis and Treatment of Obstructive Sleep Apnea in Women.

Pulmonary therapy
2026

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Journal of clinical medicine
2026

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

International journal of molecular sciences
2026

Morphometric Findings in Adolescents with Robin Sequence: A Photographic and Cephalometric Study of the Face and Mandible.

Children (Basel, Switzerland)
2026

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Clinics and practice
2026

Treatment of Traumatic Frey Syndrome and Facial Contour Deformity Using a De-Epithelialized Free SCIP Flap: A Case Report.

The Journal of craniofacial surgery
2026

Genotype-Phenotype Heterogeneity Among Patients with Lipodystrophy Harboring Rare POLD1 Variants.

The Journal of clinical endocrinology and metabolism
2026

Effect of Δ9-tetrahydrocannabinol and cannabidiol on myofascial pain modulation in patients with temporomandibular disorder: a prospective crossover study.

Clinics (Sao Paulo, Brazil)
2026

Patterns of Mandibular Incisor Agenesis in Japanese Patients With Non-syndromic Oligodontia: A Retrospective Study.

Cureus
2025

Clinical Characteristics and Diagnostic Features of Cracked Molar Teeth - An Evaluative Study.

Indian journal of dental research : official publication of Indian Society for Dental Research
2026

A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome.

Case reports in genetics
2026

Severe Manifestation of Hyperparathyroidism With Sagliker Syndrome: A Case Report.

Cureus
2026

Modified Osteotomies for Wing and Mini-Wing Genioplasty.

The Journal of craniofacial surgery
2026

Clinical profile and prevalence of odontogenic keratocysts in children and adolescents: A systematic review.

Journal of oral biology and craniofacial research
2026

Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.

Oral and maxillofacial surgery
2026

Is Maxillomandibular Advancement Possible in Skeletal Class III Patients? A Scoping Review.

Journal of clinical medicine
2026

A novel posterior occlusal splint improves symptoms and prognosis of coexisting temporomandibular disorders and deep bite: a retrospective study.

Clinical oral investigations
2026

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

Gene
2026

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

Congenital anomalies
2026

[Sudden death recovered: Brugada syndrome, a wolf in sheep's clothing].

Medicina
2026

[The organization of sleep apnoea care in the Netherlands].

Nederlands tijdschrift voor tandheelkunde
2025

Genome-wide selection analysis identifies genes associated with mandibular defects in Duolang sheep.

Frontiers in veterinary science
2026

Mapping the Prenatal Growth of the Mandible.

The Journal of craniofacial surgery
2026

Mandibular Distraction Osteogenesis Guided by 3D Model and Monitored with Ultrasonography: A Case Report.

Pediatric reports
2025

Peculiarities of Reparative Osteogenesis in Lower Jaw Defects in Rats with Experimental Metabolic Syndrome.

Bulletin of experimental biology and medicine
2026

[Application and research progress of mandibular distraction osteogenesis in craniofacial microsomia].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

A Case of Mandibular Osteomyelitis Occurring in a Patient With Parry-Romberg Syndrome.

Cureus
2026

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non-Syndromic Mandibular Retrognathism.

Orthodontics &amp; craniofacial research
2026

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Scientific reports
2026

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

Cancer diagnosis &amp; prognosis
2025

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Prague medical report
2026

Evaluation of mandibular morphology in untreated growing patients with hemifacial Microsomia: a 3D computed tomography study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

Delayed Dental Development in Children With Non-Syndromic Hypodontia: A Cross-Sectional Study Using a Machine Learning Approach to Dental Age Estimation.

Orthodontics &amp; craniofacial research
2025

Management of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.

Cureus
2025

Temperature-related atypical first-bite syndrome: a rare case report.

Frontiers in oral health
2025

Demographic and clinicopathological analysis of odontogenic keratocyst: A retrospective study.

The Malaysian journal of pathology
2026

Hypoglossal nerve stimulation in the treatment of obstructive sleep apnea: Update on French practices and position paper of the SFRMS, SPLF and SFORL sleep medicine work-group.

European annals of otorhinolaryngology, head and neck diseases
2025

WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.

BMC oral health
2025

Dental Anomalies in 1p36 Deletion Syndrome: A Case Report.

Cureus
2025

Evaluation of Patients with Single Dentures Syndrome using Conventional Mandibular Partial Dentures Versus Implant-Supported Partial Overdentures: A Randomized Clinical Trial Assessing the Patients' Satisfaction.

The International journal of oral &amp; maxillofacial implants
2025

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource-Limited Setting.

Clinical case reports
2025

[Selection of compression-distraction device type for mandibular hypoplasia based on mandible morphometric parameters].

Stomatologiia
2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Molecular syndromology
2025

OSTEOPATHIC APPROACHES IN THE DIAGNOSIS AND TREATMENT OF TEMPOROMANDIBULAR JOINT DYSFUNCTION: AN INTERDISCIPLINARY REVIEW.

Georgian medical news
2025

A pilot randomized trial of a novel digital mandibular advancement device with customized lip bumper: preliminary evaluation of treatment efficacy and relief of lower anterior dental pain in obstructive sleep apnea-hypopnea syndrome.

BMC oral health
2025

Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.

BMC oral health
2026

Mycobacterium avium Infection in a Domestic Shorthair Cat Following Subdermal Hyaluronic Acid Filler Injection.

Veterinary ophthalmology
2025

Parry-Romberg Syndrome With Localized Scleroderma: A Report of Two Pediatric Cases From Oman.

Cureus
2025

Tumoral Stage of Mycosis Fungoides, Misdiagnosed With Wells Syndrome and Langerhans Cell Histiocytosis Histologically: A Challenging Case and Review of the Literature.

Cancer reports (Hoboken, N.J.)
2025

Prevalence of the Huschke Foramen in Colombian Population: An Important Anatomic Alteration for the Planning of TMJ Arthroscopy.

Journal of maxillofacial and oral surgery
2025

Evaluation of Oral Appliance Therapy in Patients with Obstructive Sleep Apnea Syndrome: A Comparative Analysis by Age, Severity, and BMI.

Yonago acta medica
2025

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Marin-Amat Syndrome: A Case Report of a Rare Facial Synkinesis Following Traumatic Facial Nerve Injury.

Bulletin of emergency and trauma
2025

Effectiveness of Mandibular Advancement Device for Obstructive Sleep Apnea in Chronic Spinal Cord Injury.

Topics in spinal cord injury rehabilitation
2025

Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family.

Indian journal of dermatology
2025

Catch-Up Growth in Syndromic Robin Sequence: A Systematic Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Differential effectiveness of photobiomodulation in muscular and articular temporomandibular disorders: a systematic review and critical appraisal.

Lasers in medical science
2026

Is Condylar Displacement and Rotation in Maxillomandibular Advancement Surgery Associated With Long-Term Condylar Volume Changes and Skeletal Relapse?

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2025

Sonographic anatomy and imaging of the great auricular nerve.

Surgical and radiologic anatomy : SRA
2026

Precision Meets Personalization: The Synergy of Virtual Surgical Planning, 3D Printing, Orthognathic Surgery, and Custom Temporomandibular Joint Prosthesis in Managing Goldenhar Syndrome.

The Journal of craniofacial surgery
2025

Mandibular Osteomas: Report of Two Cases With Surgical Management.

Clinical case reports
2025

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.

Human genomics
2025

Crouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.

JPRAS open
2025

Mandibular Symphysis Bone for Alveolar Grafting: 3D Outcomes and Donor Site Regeneration in Patients With Unilateral Cleft Lip and Alveolus.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Multiple Dental Anomalies on the Same Side of the Arch in a Single Individual: An Unusual Occurrence.

Cureus
2025

Step-by-step clinical protocol for the fabrication and titration of a bibloc mandibular advancement device: a practical guide for sleep physicians.

Sleep &amp; breathing = Schlaf &amp; Atmung
2025

[A PhD completed. Treatment strategies for chronic diffuse sclerosing osteomyelitis of the mandible].

Nederlands tijdschrift voor tandheelkunde
2025

Eagle's syndrome with stylohyoid chain pseudoarthrosis and thyrohyoid ligament ossification: A case report and literature review.

Medicine
2025

Perioperative Care of a Pediatric Patient With Beals Syndrome.

Journal of medical cases
2025

A systematic review on sleep-related breathing disorders in athletes and para-athletes.

Sleep medicine
2025

Bilateral Non-Syndromic Supplemental Mandibular Incisors: Report on a Rare Clinical Case.

Children (Basel, Switzerland)
2025

Primary Intraosseous Vascular Malformation in a Child with ELMO2 Mutation: Diagnostic and Dental Management Challenges.

Dentistry journal
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2026

Growth Standards for Children With Smith-Magenis Syndrome (SMS).

American journal of medical genetics. Part A
2025

Acromegaly and Morris Syndrome: Description of a Clinical Case.

Endocrine, metabolic &amp; immune disorders drug targets
2026

The SAPHO syndrome in diffuse sclerosing osteomyelitis of the mandible: an oral and maxillofacial surgery perspective.

Oral surgery, oral medicine, oral pathology and oral radiology
2026

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis.

Orthodontics &amp; craniofacial research
2025

Characterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms.

Journal of molecular medicine (Berlin, Germany)
2025

Nutritional Needs and Growth Patterns in Patients With Robin Sequence Following Mandibular Distraction Osteogenesis.

Annals of plastic surgery
2025

Influence of maxillary prosthesis type on premaxillary bone loss opposing mandibular two-implant overdentures: A two-year randomized controlled clinical trial.

Journal of dentistry
2026

Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.

Aesthetic surgery journal
2026

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.

European journal of paediatric dentistry
2025

Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint (TMJ) development and homeostasis in response to jaw loading.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2025

Unique Dental and Craniofacial Manifestations of Hypoplastic Amelogenesis Imperfecta in a Patient With Prune Belly Syndrome: A Rare Case Report.

Case reports in dentistry
2025

Sleep Related Movement Disorders: What's New and Changing Clinical Practice.

Journal of sleep research
2025

Buccolingual and arch distribution patterns of permanent teeth impactions in an Egyptian population: a CBCT-based retrospective analysis.

BMC oral health
2025

Efficacy of photobiomodulation therapy using 980 nm versus 635 nm diode lasers for treatment of myofascial pain : a randomized controlled trial.

BMC oral health
2025

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.

Frontiers in pediatrics
2025

Correlation between the number and pattern of lateral pterygoid muscle attachments and pathologic changes of the temporomandibular joint according to Hegab stages based on MRI findings of 510 joints.

Scientific reports
2025

Subtle Manifestation of Lower Cavernous Sinus Syndrome as the Initial and Sole Presentation of Pterygopalatine Squamous Cell Carcinoma Invasion from the Skull Base: A Case Report.

Acta neurologica Taiwanica
2025

A novel phex gene variant causes non-syndromic tooth agenesis.

BMC oral health
2026

Modified Mandibular Advancement Device Is Effective in Patients With Insufficient Teeth: A Systematic Review.

Journal of oral rehabilitation
2025

Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature.

Case reports in dentistry
2025

Craniofacial Microsomia With Tongue Cleft: Embryological Mechanisms and Clinical Implications From Three Rare Cases.

The Journal of craniofacial surgery
2025

What Factors Affect Safe Bedside Extubation After Mandibular Distraction?

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Evaluation of masticatory function in the pediatric and adult populations with Treacher Collins syndrome.

Journal of oral biology and craniofacial research
2025

Periostitis Ossificans in a Litter of Belgian Malinois Puppies.

Journal of veterinary dentistry
2025

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

PLoS genetics
2025

Clinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.

Frontiers in allergy
2025

Sleep-Disordered Breathing in Children With Craniofacial Syndromes.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Clinical Images: Successfully treated mandibular osteomyelitis by tumor necrosis factor inhibitor in SAPHO syndrome.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

Loss of Stat3 in Prx1+ Progenitors Impairs Molar Root Development.

Advanced biology
2025

[Screening for sleep apnea-hypopnea syndrome : data from Liège University Hospital Center with a mandibular movement measurement device (Brizzy].

Revue medicale de Liege
2026

Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.

Journal of anatomy
2025

Facial Flushing (Harlequin Syndrome) Following Radiofrequency Ablation Of The Trigeminal Ganglion: A Case Report.

Pain medicine case reports
2025

Orthodontic Perspectives in the Interdisciplinary Management of Pediatric Obstructive Sleep Apnea.

Children (Basel, Switzerland)
2025

Management of asymmetrical presentation of non-syndromic mandibular supernumerary teeth: a case report.

Annals of medicine and surgery (2012)
2025

The Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Application of four-section approach for prenatal diagnosis of Pierre robin sequence.

Journal of medical ultrasonics (2001)
2025

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

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
2025

An update on sleep disordered breathing in spinal cord injury.

Current opinion in pulmonary medicine
2025

Knowledge, Attitudes, and Practices of Neonatologists on Palatal Prostheses for Airway and Feeding in Pierre Robin Syndrome: A Nationwide Survey.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Isolated and Combined Laser Acupuncture and Occlusal Device Therapy in TMD Myalgia: A Randomised Controlled Clinical Trial.

Journal of oral rehabilitation
2025

Three-dimensional cephalometric analysis of morphological characteristics in children with bilateral craniofacial microsomia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Presentation of Lemierre's Syndrome Secondary to Klebsiella pneumoniae-Caused Neck Abscess Following an Odontogenic Infection.

Cureus
2025

A narrative review of persistent pain and overall quality of life after temporomandibular joint replacement.

Journal of stomatology, oral and maxillofacial surgery
2025

Multidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.

Cureus
2025

LeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

bioRxiv : the preprint server for biology
2025

Gorlin-Goltz Syndrome with Jaw and Minimal Skin Manifestations - A Case Report.

Annals of maxillofacial surgery
2026

Long-Term Occlusal Outcomes for Conservative Management in Patients With Robin Sequence.

The Laryngoscope
2025

A new objective titration procedure using Remotely Contactless Intelligent Sleep Monitoring System for the treatment of mandibular advancement device in OSAHS patient.

Frontiers in neurology
2025

The Incidence of Cysts and Tumors Related to Impacted Mandibular Third Molars in the Thai Population.

Journal of maxillofacial and oral surgery
2025

Adverse Events Following Palatoplasty in Patients With Robin Sequence: The Impact of Prior Airway Treatment.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Surgical design and outcomes evaluation of two-jaw correction for short face syndrome with square jaw: A retrospective study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Combination Syndrome in Patients with Mandibular Implant Supported Overdenture and Conventional Maxillary Denture - A Systematic Review.

The European journal of prosthodontics and restorative dentistry
2025

Multimodal Physiotherapeutic Treatment in Adolescents With Temporomandibular Disorders: A Randomised Controlled Trial.

Journal of oral rehabilitation
2025

The role of adenoid hypertrophy in obstructive sleep apnea outcomes post-mandibular distraction osteogenesis in patients with craniofacial microsomia.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2025

Variation in mandibular canal position in different sagittal skeletal patterns: a CBCT study.

Acta odontologica latinoamericana : AOL
2025

Lemierre's Syndrome Presenting with Multisystem Complications in a Child: A Case Report and Literature Review.

Reports (MDPI)
2025

Surgical Treatment of Mandibular Coronoid Process Hypertrophy Syndrome.

Journal of clinical medicine
2025

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Biology
2025

Three Decades of Managing Pediatric Obstructive Sleep Apnea Syndrome: What's Old, What's New.

Children (Basel, Switzerland)
2025

THE ROLE OF OZONE THERAPY IN THE TREATMENT OF TEMPOROMANDIBULAR DISORDERS: A SYSTEMATIC REVIEW.

The journal of evidence-based dental practice
2025

Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.

Cureus
2025

Assessment of Associations Between Sociodemographic and Clinical Factors and Edentulism Complications in Patients Scheduled for Hybrid Prosthetic Therapy: A Cross-Sectional Study.

Clinics and practice
2025

Anesthetic Management for an Elderly Patient With Severe Bronchiectasis.

Anesthesia progress
2025

Obstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.

Journal of clinical medicine
2025

A Multifaceted Crisis: Sickle Cell Disease Complicated by Pulmonary Embolism, Avascular Necrosis, and Numb Chin Syndrome.

Cureus
2026

Oral and Maxillofacial Manifestations of Gardner Syndrome: A Literature Analysis.

The Journal of craniofacial surgery
2025

Perinatal Airway Risk for Individuals With Isolated Cleft Spectrum.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

[Combined orthodontic-orthognathic treatment of a short face syndrome case with severe overbite and overjet].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2025

Surgical Treatment of Facial Abscesses and Facial Surgery in Pet Rabbits.

The veterinary clinics of North America. Exotic animal practice
2025

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Journal of stomatology, oral and maxillofacial surgery
2025

Effects of rapid maxillary expansion and functional orthodontic treatment in children with sleep disordered breathing: a systematic review.

BMC oral health
2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Annals of plastic surgery
2025

A Case of Endosteal Hyperostosis Caused by a Mutation of the Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene.

Cureus
2025

Symptomatic cracked teeth: Associations with patient-level and tooth-level factors-A case-control study.

Journal of dentistry
2025

Metronidazole-induced toxicity of the central and peripheral nervous system.

BMJ case reports
2025

Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.

Case reports in endocrinology
2025

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

The Journal of craniofacial surgery
2025

De novo myeloid sarcoma of the oral cavity in early adolescence: an uncommon presentation with severe congenital neutropenia.

BMJ case reports
2025

Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.

Frontiers in genetics
2025

Analysis of the significance of risk factors in the development of temporomandibular joint dysfunction pain syndrome.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2026

Sleep medicine education in predoctoral dental programs of the United States: A nationwide cross-sectional survey.

Cranio : the journal of craniomandibular practice
2025

A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.

Journal of clinical and experimental dentistry
2025

Can combination syndrome influence functional performance and peri-implant bone remodeling in mandibular overdenture users? Results from a 5-year cohort study.

Journal of dentistry
2025

Treatment Strategies for Craniofacial Microsomia Patients With Obstructive Sleep Apnea: A Systematic Review.

The Journal of craniofacial surgery
2026

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.

Journal of clinical research in pediatric endocrinology
2025

A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.

Clinical genetics
2025

Upper Airway Morphologic Changes in Rubinstein-Taybi Syndrome After Orthognathic Surgery: A Case Report.

Journal of maxillofacial and oral surgery
2025

Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report.

Frontiers in pediatrics
2025

Mechanisms and Management of Obstructive Sleep Apnea: A Translational Overview.

Clinical and experimental otorhinolaryngology
2025

[Comparison of diagnostic methods and the initial stage of treatment in patients with temporomandibular joint dysfunction].

Stomatologiia
2025

Case Report : Bilateral dentigerous cysts in association with developing third molars and premolars in a non-syndromic 13-year-old: a 2-year follow-up.

F1000Research
2025

Corrigendum: Evaluation of sleep position shifts in patients with obstructive sleep apnea syndrome with the use of a mandibular advancement device.

Frontiers in dental medicine
2025

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.

International journal of molecular sciences
2025

Comparison of Temporomandibular Disorder Signs and Symptoms in CrossFit® Athletes and Sedentary Individuals.

International journal of environmental research and public health
2025

Congenital Unilateral Syngnathia: A Report of a Rare Case.

Cureus
2025

Management of Congenital Macroglossia Due to Lymphatic Malformation in a Child with Review of Literature.

Journal of Indian Association of Pediatric Surgeons
2025

Use of the preepiglottic baton plate for treatment of tongue-based obstruction in newborns with Robin sequence.

Current opinion in otolaryngology &amp; head and neck surgery
2025

Orthodontic-Surgical Approach for Treating Skeletal Class II Malocclusion with Severe Mandibular Hypoplasia in Williams Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Numb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.

Quintessence international (Berlin, Germany : 1985)
2025

Obstructive sleep apnea syndrome indexes in patients treated with oral appliances with different vertical dimension: a preliminary study.

Minerva dental and oral science
2025

Efficacy of Prolotherapy for Temporomandibular Joint Dysfunction: An Interventional Clinical Study.

Medical science monitor : international medical journal of experimental and clinical research
2025

Radiological and Surgery Considerations and Alternatives in Total Temporomandibular Joint Replacement in Gorlin-Goltz Syndrome.

Diagnostics (Basel, Switzerland)
2025

Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.

Head and neck pathology
2025

Facial Diffuse Plexiform Neurofibroma-associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years.

Cancer diagnosis &amp; prognosis
2025

Recurrent Diffuse Neurofibroma of the Mandibular Anterior Lingual Alveolar Process Associated With Dental and Skeletal Changes in Neurofibromatosis Type 1.

Cancer diagnosis &amp; prognosis
2025

Four-year follow-up comparison of three pre-surgical infant orthopedic methods on mandibular arch morphology in unilateral cleft lip and palate: A retrospective study.

International orthodontics
2025

Orthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.

The Journal of craniofacial surgery
2025

A prospective cohort study on effects of mandibular setback with or without maxillary advancement for skeletal class III malocclusion on sleep-related respiratory parameters.

Sleep &amp; breathing = Schlaf &amp; Atmung
2025

Patient Selection for Efficacious Mandibular Advancement Device Therapy in Obstructive Sleep Apnea: An Institutional Outcomes Analysis.

The Annals of otology, rhinology, and laryngology
2025

Using DISE to evaluate tonsillar obstruction in sleep apnea syndrome in adults.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

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Doenças relacionadas

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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. Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.
    Frontiers in pediatrics· 2026· PMID 41867941mais citado
  2. Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
    Surgical neurology international· 2026· PMID 41783179mais citado
  3. Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
    International journal of molecular sciences· 2026· PMID 41752027mais citado
  4. Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.
    Frontiers in ophthalmology· 2026· PMID 41852892mais citado
  5. Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.
    Animals : an open access journal from MDPI· 2026· PMID 41829047mais citado
  6. Subtle Manifestation of Lower Cavernous Sinus Syndrome as the Initial and Sole Presentation of Pterygopalatine Squamous Cell Carcinoma Invasion from the Skull Base: A Case Report.
    Acta Neurol Taiwan· 2025· PMID 41020464recente
  7. LeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?
    J Plast Reconstr Aesthet Surg· 2025· PMID 40782675recente
  8. Can combination syndrome influence functional performance and peri-implant bone remodeling in mandibular overdenture users? Results from a 5-year cohort study.
    J Dent· 2025· PMID 40480309recente
  9. Numb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.
    Quintessence Int· 2025· PMID 40376702recente
  10. The effect of lingual orthodontic appliances in the dimensional reduction of labial gingival recession and root prominence caused by wire syndrome in the anterior mandible: a multicenter study.
    Quintessence Int· 2025· PMID 39976246recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363649(Orphanet)
  2. OMIM OMIM:615381(OMIM)
  3. MONDO:0014157(MONDO)
  4. GARD:10989(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q17120696(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 progeroide-surdez-hipoplasia mandibular
Compêndio · Raras BR

Síndrome progeroide-surdez-hipoplasia mandibular

ORPHA:363649 · MONDO:0014157
Prevalência
<1 / 1 000 000
Casos
21 casos conhecidos
Herança
Autosomal dominant
CID-10
E34.8 · Outros transtornos endócrinos especificados
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3715192
EuropePMC
Wikidata
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