A Síndrome de Displasia Epifisária com Perda Auditiva e Dismorfismo é uma condição rara que causa múltiplas alterações congênitas (presentes desde o nascimento) e características físicas peculiares. Ela se manifesta por atraso no desenvolvimento, deficiência intelectual, baixa estatura, perda de audição (do tipo neurossensorial), traços faciais específicos (incluindo uma dobra de pele no canto interno dos olhos – epicanthus, ponte do nariz larga e rebaixada, ponta do nariz larga e carnuda, narinas levemente viradas para frente, sulcos profundos entre o nariz e a boca, e boca larga com lábio superior fino), e alterações nos ossos (como polegares mal posicionados, dedos curtos, escoliose e ossos do punho mal formados). Os pacientes também apresentam problemas comportamentais graves (como agressividade e hiperatividade), além de manchas claras na pele e padrões de impressões digitais subdesenvolvidos. Não houve mais descrições desta síndrome na literatura médica desde 1992.
Introdução
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A Síndrome de Displasia Epifisária com Perda Auditiva e Dismorfismo é uma condição rara que causa múltiplas alterações congênitas (presentes desde o nascimento) e características físicas peculiares. Ela se manifesta por atraso no desenvolvimento, deficiência intelectual, baixa estatura, perda de audição (do tipo neurossensorial), traços faciais específicos (incluindo uma dobra de pele no canto interno dos olhos – epicanthus, ponte do nariz larga e rebaixada, ponta do nariz larga e carnuda, narinas levemente viradas para frente, sulcos profundos entre o nariz e a boca, e boca larga com lábio superior fino), e alterações nos ossos (como polegares mal posicionados, dedos curtos, escoliose e ossos do punho mal formados). Os pacientes também apresentam problemas comportamentais graves (como agressividade e hiperatividade), além de manchas claras na pele e padrões de impressões digitais subdesenvolvidos. Não houve mais descrições desta síndrome na literatura médica desde 1992.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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 displasia epifisária-perda auditiva-dismorfia
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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European journal of medical geneticsThe rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
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Biochemical and biophysical research communicationsTubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.
Frontiers in pediatricsA case of nail-patella syndrome with osteochondral lesion of the lateral femoral condyle accompanied with anomalies of anterior horns of the menisci and lateral femoral condyle.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationDescription of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.
BiomoleculesA comprehensive review of the "supracondylar process" with translation of Adachi.
Clinical anatomy (New York, N.Y.)Chondrocyte Polarity During Endochondral Ossification Requires Protein-Protein Interactions Between Prickle1 and Dishevelled2/3.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchLow bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome.
BMJ case reportsA novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.
BMC medical genomicsPolyostotic fibrous dysplasia (McCune-Albright) with rare multiple epiphyseal lesions in association with aneurysmal bone cyst and pathologic fracture.
Radiology case reportsSlipped Capital Femoral Epiphysis in an Adult with Panhypopituitarism: A Case Report.
JBJS case connectorCutaneous Complications Associated With Intraosseous Access Placement.
CutisSlipped capital femoral epiphysis in a healed Perthes hip.
BMJ case reportsTricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
Acta reumatologica portuguesaPrimary cam morphology; bump, burden or bog-standard? A concept analysis.
British journal of sports medicineScrew Fixation of Pediatric Tibial Tubercle Fractures.
JBJS essential surgical techniquesEvidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Frontiers in endocrinologySpotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.
International journal of paleopathologySpondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
American journal of medical genetics. Part AClosed Reduction of Pediatric Distal Radial Fractures and Epiphyseal Separations.
JBJS essential surgical techniquesMulticenter Outcomes After Primary Hip Arthroscopy: A Comparative Analysis of Two-Year Outcomes After Labral Repair, Segmental Labral Reconstruction, or Circumferential Labral Reconstruction.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationTotal Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.
Case reports in orthopedicsBilateral Recurrent, Atraumatic Anterior Knee Dislocations in a Pediatric Patient With Congenital Absence of the Anterior Cruciate Ligament.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsLong-term follow-up of a child with Wolcott-Rallison syndrome.
BMJ case reportsEpiphysiolysis in a 22-year-old Patient with Congenital Hypogonadotropic Hypogonadism: Case Report.
Revista brasileira de ortopediaPost-traumatic entrapment of the median nerve in the ulno-humeral joint: Diagnosis, treatment and literature review.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationGenetics of Acromegaly and Gigantism.
Journal of clinical medicine[Toddler's Fractures: Definition, Differences between the Diagnostic and Therapeutic Approach].
Acta chirurgiae orthopaedicae et traumatologiae CechoslovacaChallenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report.
JBJS case connectorNew Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.
International journal of molecular sciencesMonomelic Maffucci syndrome.
BMJ case reportsHeterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
European journal of human genetics : EJHGFamilial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
The Journal of clinical endocrinology and metabolismBilateral slipped capital femoral epiphysis as first manifestation of primary hyperparathyroidism in a 15-year-old boy.
Pediatric endocrinology, diabetes, and metabolismNon-axial osteoarticular tuberculosis in the paediatric age.
Revista espanola de cirugia ortopedica y traumatologia (English ed.)Wolcott-Rallison Syndrome Affecting Three Consecutive Conceptions of a Consanguineous Couple.
Indian pediatricsChondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
American journal of medical genetics. Part A[A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication].
Problemy endokrinologii[Diagnosis of complete transphyseal separation of the distal humerus].
Ugeskrift for laegerUlna shortening osteotomy versus arthroscopic wafer procedure in the treatment of ulnocarpal impingement syndrome.
Hand surgery & rehabilitationTRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.
Molecular genetics & genomic medicineA new family with epiphyseal chondrodysplasia type Miura.
American journal of medical genetics. Part AShort rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene.
Journal of postgraduate medicineIFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
European journal of medical geneticsEVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
American journal of medical genetics. Part ASlipped capital femoral epiphysis in an ambulant patient with spastic cerebral palsy. A long-term evolution.
Anales del sistema sanitario de NavarraBilateral double-layered patella in a patient with advanced knee osteoarthritis.
Folia morphologicaNovel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
American journal of medical genetics. Part AChondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.
Pediatric dermatologyMutations in COMP cause familial carpal tunnel syndrome.
Nature communicationsCurrent concepts in the management Radial Longitudinal Deficiency.
Journal of clinical orthopaedics and traumaAssociation of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report.
Skin appendage disordersDisorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice.
Scientific reportsIs Hip Arthroscopy an Adequate Therapy for the Borderline Dysplastic Hip? Correlation Between Radiologic Findings and Clinical Outcomes.
Orthopaedic journal of sports medicineAn Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Human molecular geneticsUnique skeletal manifestations in patients with Primrose syndrome.
European journal of medical geneticsImpaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
Archives of oral biologyAcromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.
Molecular genetics & genomic medicinePodocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.
BMC nephrologyThe Outside-In Technique for Slipped Capital Femoral Epiphysis: A Safe and Reproducible Approach in Hip Arthroscopy.
Arthroscopy techniquesDiabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.
Orphanet journal of rare diseasesCANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.
FEBS open bioA novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.
BMC medical genetics[Myofascial trigger point: an indicator of acupoint sensitization].
Zhen ci yan jiu = Acupuncture researchSkeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study.
The Lancet. Child & adolescent healthAssociações
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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.
- Cardioacrofacial dysplasia 1: a case report and literature review.
- Prioritising conditions resulting in chronic lower limb musculoskeletal pain in children and adolescents for development of clinical practice guidelines: an Australian Delphi study.
- Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
- Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.
- A Review of Pediatric Orthopedic Disorders: Diagnosis and Treatment Updates.
- Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
- Inverted dome radial osteotomy and ulnar shortening for neglected paediatric distal radial epiphyseal injury with ulnar impaction syndrome.
- Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
- A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
- Phalangeal microgeodic syndrome: a paediatric case series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1825(Orphanet)
- MONDO:0015941(MONDO)
- GARD:2178(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785829(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.
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