Displasia septo-óptica (DSO), também conhecida como síndrome de De Morsier, é uma síndrome rara de malformação congênita que apresenta uma combinação da hipoplasia do nervo óptico, disfunção da glândula hipófise e ausência do septo pelúcido. Dois ou mais desses sinais precisam estar presentes para um diagnóstico clínico — apenas 30% dos pacientes apresentam todos os três. O médico franco-suíço Georges de Morsier foi o primeiro a reconhecer a relação entre um septo pelúcido rudimentar ou ausente com a hipoplasia dos nervos ópticos e do quiasma em 1956.
Introdução
O que você precisa saber de cara
Visão geral
A Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina é uma condição genética rara que afeta o desenvolvimento de múltiplos sistemas do corpo. Ela é caracterizada pela combinação de deficiência da glândula pituitária (hipopituitarismo), pênis pequeno (micropênis) e malformações na face, como fenda labial e/ou fenda palatina. A síndrome é tão rara que não há dados disponíveis sobre sua prevalência na população geral.[1]
Sinais e sintomas
Os principais sinais e sintomas da síndrome incluem: hipopituitarismo (deficiência de hormônios produzidos pela glândula pituitária, que pode afetar o crescimento, o metabolismo e a função sexual), micropênis (pênis anormalmente pequeno) e fenda lábio-palatina (abertura no lábio superior e/ou no céu da boca). Não há informações disponíveis sobre a idade de início dos sintomas ou outros fenótipos associados.[1]
Causas genéticas
Diagnóstico
O diagnóstico é baseado na avaliação clínica dos sinais característicos: hipopituitarismo, micropênis e fenda lábio-palatina. Exames laboratoriais podem confirmar a deficiência hormonal. Testes genéticos podem ser realizados para investigar possíveis alterações, mas não há um teste genético específico disponível para esta síndrome, pois o gene causador ainda não foi identificado. Não há informações sobre variantes no ClinVar ou ensaios clínicos ativos.[1][2]
Tratamento e manejo
O tratamento é individualizado e foca no manejo dos sintomas. Para o hipopituitarismo, pode ser necessária a reposição hormonal (como hormônio do crescimento, hormônios tireoidianos ou sexuais), sempre sob supervisão médica. O micropênis pode ser avaliado por um endocrinologista pediátrico. A fenda lábio-palatina geralmente requer correção cirúrgica por uma equipe especializada (cirurgia plástica, fonoaudiologia, odontologia). Não há dados sobre procedimentos específicos cobertos pelo SUS para esta síndrome, mas a cobertura mínima é garantida.[1]
Prognóstico e qualidade de vida
Não há informações específicas sobre o prognóstico ou a qualidade de vida para esta síndrome na literatura científica disponível. O acompanhamento multidisciplinar (endocrinologista, cirurgião, geneticista) é essencial para abordar as diferentes manifestações e melhorar a qualidade de vida do paciente.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina é uma condição congênita rara catalogada no Orphanet como síndrome malformativa. Suas causas genéticas precisas e os sinais clínicos padronizados ainda não foram descritos e catalogados nas bases científicas oficiais. No Brasil, existe um Protocolo Clínico e Diretrizes Terapêuticas (PCDT) do Ministério da Saúde para hipopituitarismo em geral, mas ele não garante cobertura para esta forma específica. Não existem medicamentos ou procedimentos específicos registrados para a síndrome no Sistema Único de Saúde (SUS).
Displasia septo-óptica (DSO), também conhecida como síndrome de De Morsier, é uma síndrome rara de malformação congênita que apresenta uma combinação da hipoplasia do nervo óptico, disfunção da glândula hipófise e ausência do septo pelúcido. Dois ou mais desses sinais precisam estar presentes para um diagnóstico clínico — apenas 30% dos pacientes apresentam todos os três. O médico franco-suíço Georges de Morsier foi o primeiro a reconhecer a relação entre um septo pelúcido rudimentar ou ausente com a hipoplasia dos nervos ópticos e do quiasma em 1956.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) is a disorder caused by autosomal-dominant mutations in the TP63 gene. AEC is characterised by the presence of severe and painful skin erosions that can take years to heal. Current treatment options for these devastating lesions are limited, highlighting the need for new therapeutic strategies. We previously generated keratinocytes from patient-derived induced pluripotent stem cells (iPSC-K) and identified defects in several cell adhesion complexes, including desmosomes, hemidesmosomes and focal adhesions. In the present study, we developed a complementary in vitro model using NTERT keratinocytes transduced with lentiviral constructs expressing AEC-related TP63 mutations (N-AEC). This model allows for the large-scale production of disease-relevant material, overcoming the limitations of iPSC-derived keratinocytes, which have the characteristics of primary keratinocytes, including limited cell doublings and lifespan. We demonstrate that N-AEC keratinocytes exhibit key defects observed in AEC iPSC-K and AEC patient skin, including downregulation of cell adhesion proteins. In addition, 3D epidermal equivalents generated from these cells replicate pathological features seen in AEC patient skin, such as intra-epidermal cysts, reduced desmosomal protein expression and altered expression of differentiation markers. Our N-AEC model provides a valuable tool for investigating the mechanisms underlying skin fragility in AEC and other genetic skin disorders and advances the potential for novel therapeutic development.
A Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.
Congenital anomalies are influenced by genetic and environmental factors. While interventions including folic acid supplementation have reduced neural tube defects, data on modifiable socio-demographic risk factors remain limited. This study aimed to assess variation in the prevalence of selected congenital anomalies across the United States according to socio-demographic factors. A population-based analysis was conducted using CDC-WONDER natality data from 2016 to 2023. Included anomalies were anencephaly, spina bifida, cyanotic heart disease, diaphragmatic hernia, omphalocele, gastroschisis, limb reduction, cleft lip/palate, Down syndrome, chromosomal disorders, and hypospadias. Associations with maternal age, BMI, race, tobacco use, diabetes, and fertility treatments were analyzed. Prevalence rates were calculated per 1000 live births. Relative risks (RRs) and 95% confidence intervals (CIs) were estimated. Joinpoint regression was used to assess annual percent changes (APCs), with p < 0.05 considered significant. Among 3,482,944 singleton live births in 2023, the overall prevalence of the selected congenital anomalies was 3.3 per 1000. Compared to Caucasian mothers, risk was lower in Asian (RR 0.57; 95% CI: 0.52-0.63) and Black (RR 0.81; 95% CI: 0.76-0.85) infants and higher in American Indian/Alaska Native infants. Significant risk factors included pre-pregnancy diabetes (RR 2.41; 95% CI: 2.16-2.69), maternal age > 45 (RR 2.95; 95% CI: 2.36-3.69), and tobacco use (RR 1.78; 95% CI: 1.64-1.94). A significant decline in prevalence was observed from 2016 to 2023 (APC: -0.6%; 95% CI: -1.1 to -0.2; p = 0.006). Significant disparities and modifiable maternal risk factors were associated with the prevalence of selected congenital anomalies in the U.S. from 2016 to 2023. A modest statistically significant decline in overall prevalence was observed during the study period, supporting the importance of continued national surveillance and targeted preconception and prenatal interventions to reduce risk and address inequities. FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) is characterized by distinctive craniofacial features (including broad forehead, widow's peak and/or frontal upsweep, hypertelorism, ptosis, short nose with a broad nasal bridge and anteverted nares, wide mouth, and rectangular thickening of the ear lobes), short stature, skeletal anomalies (including short/broad hands, brachydactyly, camptodactyly, "swan neck" finger deformities, prominent interphalangeal joints, and metatarsus varus), genital anomalies including shawl scrotum and cryptorchidism, dental anomalies, variable neurodevelopmental disorders, ophthalmologic findings, and inguinal hernia. Congenital malformations such as cardiac defects, central nervous system anomalies, and cleft lip and/or palate are less common. Heterozygous females are typically asymptomatic or show a milder, incomplete phenotype. The diagnosis of Aarskog-Scott syndrome is established in a male proband with characteristic clinical findings and a hemizygous FGD1 pathogenic variant identified by molecular genetic testing. The diagnosis of Aarskog-Scott syndrome can be established in a female proband with characteristic clinical findings (milder, incomplete phenotype) and a heterozygous FGD1 pathogenic variant identified by molecular genetic testing; Heterozygous females are typically asymptomatic. Treatment of manifestations: Growth hormone therapy may be considered in those with growth hormone deficiency or persistent growth deficiency in those born small for gestational age without catch-up growth; standard orthopedic management for camptodactyly, foot malposition, and osteochondritis; standard treatment for cryptorchidism; standard dental and orthodontic care; developmental and educational support; standard ophthalmologic management of vision issues; ptosis surgery if visual axis is obstructed; standard management of hernias and anorectal anomalies; standard treatment of congenital heart disease; surgical correction for cleft lip and palate; speech therapy when needed. Surveillance: Measurement of growth parameters at every visit until adulthood; clinical musculoskeletal examination annually or as needed; monitor testicular descent at each pediatric visit; dental evaluations beginning with tooth eruption then annually or as clinically indicated; monitor developmental progress, educational needs, and for attention-deficit/hyperactivity disorder at each visit; ophthalmology evaluation annually in childhood and adolescence or as clinically indicated; assess for inguinal hernia at each visit; follow-up echocardiography as indicated by cardiologist; follow up for cleft lip/palate as clinically indicated; audiology evaluation annually in childhood and adolescence or as clinically indicated. Agents/circumstances to avoid: Avoid movements that cause sudden stress to the head and neck (e.g., somersaults, head dives, high-force cervical manipulation) and neck hyperextension during procedures until cervical abnormalities have been ruled out. Obtain cervical spine radiographs before general anesthesia. Evaluation of relatives at risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk male relatives of an affected individual in order to identify as early as possible those who would benefit from echocardiogram and management of congenital heart disease. Aarskog-Scott syndrome is inherited in an X-linked manner. About 10% of affected males have the disorder as the result of a de novo pathogenic variant. If the mother of the proband has an FGD1 pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected. Females who inherit the pathogenic variant will be heterozygotes and will usually be asymptomatic or have a partial or milder phenotype. Affected males transmit the FGD1 pathogenic variant to all of their daughters and none of their sons. Once the FGD1 pathogenic variant has been identified in an affected family member, identification of female heterozygotes and prenatal/preimplantation genetic testing are possible.
Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
SPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in SPECC1L cause a syndrome characterized by craniofrontonasal anomalies including broad nasal bridge, ocular hypertelorism, prominent forehead, and cleft lip/palate. Complete loss of SPECC1L in mice on a homogeneous genetic background results in perinatal lethality, accompanied by subtle cranial differences and incompletely penetrant cleft palate. This lethality limits postnatal analysis of craniofacial development. Because cranial neural crest cells (CNCCs) contribute extensively to the formation of anterior craniofacial structures, we investigated whether disruption of SPECC1L in CNCCs contributes to the craniofrontonasal phenotypes observed in SPECC1L-related syndrome. We generated a Specc1l-floxed allele and crossed it with the Wnt1-Cre2 deleter strain, which drives Cre recombinase expression in the dorsal neuroectoderm and NCCs. Most homozygous Specc1l ΔCNCC mutants survived postnatally and exhibited hallmark features of the human SPECC1L-related syndrome, including shortened skulls, reduced frontal bone area, nasal defects, and midface hypoplasia. The cranial mesenchyme of Specc1l ΔCNCC mice displayed shortened primary cilia and increased Hedgehog (Hh) signaling activity at E13.5, as evidenced by enhanced GLI1 immunostaining. These defects were also observed early in E9.5 facial prominences, indicating that they may drive the adult phenotype. Collectively, Specc1l ΔCNCC mice provide a novel model for investigating the roles of CNCCs, primary cilia, and Hh signaling in frontonasal prominence and midfacial development.
Genetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.
Background: Non-syndromic cleft lip/palate (NCL/P) is a prevalent congenital anomaly. Despite an unclear epidemiological link between orofacial clefts and dental caries, genetic studies suggest that polymorphisms in taste receptor genes may influence caries risk. Objectives: This study had two primary objectives: (1) to compare SNPs in NCL/P-associated genes (IRF6, FOXE1) between Kuwaiti NCL/P cases and controls, and (2) to explore whether variants in caries-associated (KLK4, DSPP) and taste receptor (TAS1R2, TAS2R38) genes are associated with dental caries susceptibility in individuals with NCL/P, independent of overall caries prevalence. Methods: A case-control design was employed, with 25 NCL/P cases and 25 unaffected controls recruited from a Dental Craniofacial Clinic in Kuwait. Genomic DNA was extracted from buccal swabs, and SNP genotyping was performed using real-time PCR for genes related to NCL/P, dental caries, and taste perception. Caries status was assessed using the dmft/DMFT scoring system. The genotyped genes included NCL/P-related (IRF6, FOXE1), caries-related (KLK4, DSPP), and taste receptor genes (TAS1R2, TAS2R38). Results: At nominal significance, KLK4, DSPP, and TAS1R2 showed associations with NCL/P status, while IRF6 and FOXE1 did not. After applying Benjamini-Hochberg FDR correction across 10 SNPs, no allele- or genotype-level association remained significant (q < 0.05). The strongest signal was KLK4 rs2235091 (allele-level p = 0.016; q = 0.159). An exploratory age- and sex-adjusted logistic model for KLK4 suggested a possible effect (aOR 0.40; 95% CI 0.18-0.87; p = 0.021). Within-group analyses of caries burden revealed no associations that survived FDR control (lowest q = 0.056 for FOXE1 in controls). Conclusions: After controlling for multiple testing, no SNP showed a statistically significant association with NCL/P or caries burden. Nominal signals for KLK4, DSPP, and TAS1R2 did not survive FDR correction; an exploratory adjusted model suggested a possible KLK4 effect, but this requires cautious interpretation. The small sample size is a key limitation, and the findings highlight the need for larger, well-powered studies to clarify genetic contributions to NCL/P and caries risk.
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Prenatal diagnosis[Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].
Orvosi hetilapUsing "Real-World Data" to Study Cleft Lip/Palate Care: An Exploration of Speech Outcomes from a Multi-Center US Learning Health Network.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Cross-Sectional Study of the Dental Arch Relationship and Palatal Morphology after Cleft Surgery in Italian Children with Unilateral Cleft and Lip Palate.
Children (Basel, Switzerland)Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.
Journal of clinical ultrasound : JCUA complex rearrangement between APC and TP63 associated with familial adenomatous polyposis identified by multimodal genomic analysis: a case report.
Frontiers in oncologyClinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Advances in experimental medicine and biologyFactors Associated With Mortality and Adverse Outcomes After Truncus Arteriosus Repair.
The Annals of thoracic surgeryEffects of TP63 mutations on keratinocyte adhesion and migration.
Experimental dermatologyAssociation of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMolecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.
GenesThe impact of passive alveolar molding vs. nasoalveolar molding on cleft width and other parameters of maxillary growth in unilateral cleft lip palate.
Clinical oral investigationsEctrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.
CorneaSingle-Stage Posterior Vomerine Ostectomy and Primary Cheiloplasty in Patients with Bilateral Cleft Lip & Palate and Protuberant Premaxilla.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNonunion in Orthognathic Surgery: A Case-Series of 15 Patients.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsGenetic predisposition to ocular surface disorders and opportunities for gene-based therapies.
The ocular surfaceA newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
Journal of neonatal-perinatal medicinePrognosis of Maxillary Central Incisors in Patients with Bilateral Cleft Lip/Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAbsent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Ophthalmic geneticsA novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Molecular genetics & genomic medicineTreatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.
Eye & contact lensEthical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOverlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.
European journal of medical geneticsAXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Molecular genetics & genomic medicineInnovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.
CellsMorphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.
BMC genomicsEffect of Sleep Position on Sleep-Disordered Breathing in Young Children With Unrepaired Incomplete Cleft Palates.
The Journal of craniofacial surgeryDental anomalies in an Albanian orthodontic sample: a retrospective study.
BMC oral healthProsthetic rehabilitation of a patient with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome through a hybrid workflow: A case report with 2-year follow-up.
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 DentistryThe relationship between maternal periconceptional micronutrient supplementation and non-syndromic cleft lip/palate in offspring.
Birth defects researchPremaxillary Setback in Bilateral Cleft Lip and Palate Repair.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGoltz Syndrome Combined with Triple X Syndrome, a Case Report.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCraniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Diagnostics (Basel, Switzerland)Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.
Frontiers in geneticsPatient and surgical factors that affect the development of velopharyngeal insufficiency.
Journal of plastic, reconstructive & aesthetic surgery : JPRASmir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate.
EpigeneticsExpanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
American journal of medical genetics. Part AOral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
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 DentistryNovel EPG5 Mutation Associated with Vici Syndrome Gene.
Case reports in geneticsA novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Human genome variationDamaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.
BMC pediatricsp63 in corneal and epidermal differentiation.
Biochemical and biophysical research communicationsThe genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Oral and maxillofacial surgeryCharacteristic of Cleft Lip and Palate Cases Attended to Khoula Hospital Cleft Center.
The Journal of craniofacial surgeryMED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
American journal of medical genetics. Part AAdditional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Human genome variationOrthognathic surgery in patients with systemic diseases.
Oral and maxillofacial surgeryMosaicism in Hartsfield syndrome.
European journal of medical geneticsPathway analysis identified a significant association between cell-cell adherens junctions-related genes and non-syndromic cleft lip/palate in 895 Asian case-parent trios.
Archives of oral biologyTP63-related disorders: two case reports and a brief review of the literature.
Dermatology online journalAnaesthetic Challenges in a Paediatric Patient with Escobar Syndrome-Difficult Airway and Postoperative Pneumothorax.
Turkish journal of anaesthesiology and reanimation3D evaluation of the effects of traumatic surgical techniques on Vomer bone volume and morphology in the treatment of lip and palate clefts.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESOro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate.
Contemporary clinical dentistryPrenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
European journal of medical geneticsCleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
Cytogenetic and genome researchOrthognathic Surgery Rate in Cleft Care.
The Journal of craniofacial surgeryElucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genetics in medicine : official journal of the American College of Medical GeneticsFurther Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.
Molecular syndromologyAcademic achievement and needs of school-aged children born with selected congenital anomalies: A systematic review and meta-analysis.
Birth defects researchLack of IRF6 Disrupts Human Epithelial Homeostasis by Altering Colony Morphology, Migration Pattern, and Differentiation Potential of Keratinocytes.
Frontiers in cell and developmental biologyFamilial cleft tongue caused by a unique translation initiation codon variant in TP63.
European journal of human genetics : EJHGNovel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Italian journal of pediatricsA practical approach to dental care for patients with Wolf-Hirschhorn syndrome.
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 DentistryPili Torti: A Feature of Numerous Congenital and Acquired Conditions.
Journal of clinical medicineHomozygous deletion of glutathione S-transferase theta 1 and mu 1 increase the risk of non-syndromic oral clefts in a Mexican population.
Archives of oral biologyIdentification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.
Frontiers in cell and developmental biologyEfficacy and morbidity of biodegradable versus titanium osteosyntheses in orthognathic surgery: A systematic review with meta-analysis and trial sequential analysis.
European journal of oral sciencesOrofacial clefts embryology, classification, epidemiology, and genetics.
Mutation research. Reviews in mutation researchAltered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development.
Cells & developmentChild Protective Services Referral in a Cleft Lip and/or Palate Population: Assessment of Prevalence, Indications, and Outcomes.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOcular manifestations of ectodermal dysplasia.
Orphanet journal of rare diseasesKallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.
European journal of endocrinologyEIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet journal of rare diseasesClinical Follow-Up in Orofacial Clefts-Why Multidisciplinary Care Is the Key.
Journal of clinical medicineAntenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.
European journal of medical geneticsFactors Associated With Delay in Cleft Surgery at a Tertiary Children's Hospital in a Major US Metropolitan City.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCiliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling.
Development (Cambridge, England)Isoform-Specific Roles of Mutant p63 in Human Diseases.
CancersRegistry-Based Study of Prevalence of Cleft Lip/Palate in Thailand from 2012 to 2015.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPolymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis.
Life (Basel, Switzerland)Prediction of orthognathic surgery need in children with unilateral cleft lip palate: Dental arch relationships and 5-year-olds' index.
Orthodontics & craniofacial researchScreening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationRisk of non-syndromic orofacial clefts by maternal rural-urban residence and race/ethnicity: A population-based case-control study in Washington State 1989-2014.
Paediatric and perinatal epidemiologyCleft Palate Repair: A Study Between Two Surgical Procedures.
The Journal of craniofacial surgeryEEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
MedicineA Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes.
Frontiers in cell and developmental biologyJuberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
Archives of oral biologyCongenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
American journal of medical genetics. Part AAnkyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.
Balkan journal of medical genetics : BJMGFirst report of a Mexican family with mutation in the CDH1 gene.
Molecular genetics & genomic medicineCleft Lip and Palate in Ectodermal Dysplasia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGenetic variation of IRF6 and TGFA genes in an HIV-exposed newborn with non-syndromic cleft lip palate.
Oral diseasesOrthognathic Hardware Complications in the Era of Patient-Specific Implants.
Plastic and reconstructive surgeryPre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
American journal of medical genetics. Part AAssociation of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
International journal of molecular sciencesGenetics and signaling mechanisms of orofacial clefts.
Birth defects researchDisruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1.
Development (Cambridge, England)Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
Clinical and experimental dermatologyEctrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
American journal of medical genetics. Part ACongenital Heart Disease in Patients With Cleft Lip/Palate and Its Impact on Cleft Management.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSimultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
Plastic and reconstructive surgeryIncremental or maximal mandibular advancement in the treatment of class II malocclusion through functional appliances: A systematic review with meta-analysis.
Orthodontics & craniofacial researchCleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
International journal of epidemiologyPerioperative care for internationally adopted children: Medical, surgical, and psychosocial considerations for a population of concern.
Paediatric anaesthesiaCDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
GenesJuberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
European journal of orthodonticsAn Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management.
Oral and maxillofacial surgery clinics of North America[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.
Journal of pediatric geneticsImprovement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246.
Cell death & diseaseExon sequencing reveals that missense mutation of PBX1 gene may increase the risk of non-syndromic cleft lip/palate.
International journal of clinical and experimental pathologyExtracellular Matrix Composition and Remodeling: Current Perspectives on Secondary Palate Formation, Cleft Lip/Palate, and Palatal Reconstruction.
Frontiers in cell and developmental biologyAssociation of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis.
Fetal and pediatric pathologyAssessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.
HeliyonThe phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
American journal of medical genetics. Part A[Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome: a case report].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyMidline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationDoes the Children's Hospital of Philadelphia Modification Improve the Fistula Rate in Furlow Double-Opposing Z-Plasty?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsNovel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
American journal of medical genetics. Part AAssociation between cystathionine beta-synthase c.844ins68 polymorphism and risk of non-syndromic cleft lip/palate: A meta-analysis of family-based and case-control studies.
International orthodonticsAssociation of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.
International orthodonticsOrofacial features and medical profile of eight individuals with Kabuki syndrome.
Medicina oral, patologia oral y cirugia bucalA novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
The journal of gene medicineSingle-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaPolymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.
International journal of environmental research and public healthA systematic review and meta-analysis on protective role of forkhead box E1 (FOXE1) polymorphisms in susceptibility to non-syndromic cleft lip/palate.
International orthodonticsComparison between Chronological Age and Dental Ages of Saudi Patients with Cleft Lip and Palate.
The journal of contemporary dental practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina.
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Deficiência do Hormônio de Crescimento - Hipopituitarismo". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
É uma condição congênita rara registrada sob o código ORPHA:2243. O catálogo Orphanet a classifica no grupo de síndromes malformativas.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
2 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 2 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-de-hipopituitarismo-micropenis-fenda-labio-palatina
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome de hipopituitarismo-micropênis-fenda lábio-palatina
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- Doença rara (ontologia)
- fonte: Orphanet
