A síndrome CHILD (Hemidisplasia Congênita com Nevo Ictiosiforme e Defeitos dos Membros, CS) é uma genodermatose dominante ligada ao X, caracterizada por lesões cutâneas inflamatórias e descamativas unilaterais com anomalias viscerais e dos membros ipsilaterais.
Introdução
O que você precisa saber de cara
A síndrome CHILD (Hemidisplasia Congênita com Nevo Ictiosiforme e Defeitos dos Membros, CS) é uma genodermatose dominante ligada ao X, caracterizada por lesões cutâneas inflamatórias e descamativas unilaterais com anomalias viscerais e dos membros ipsilaterais.
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
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 64 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked dominant.
Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity)
Endoplasmic reticulum membraneLipid droplet
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
Variantes genéticas (ClinVar)
238 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 56 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome CHILD
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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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
8 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Reduction of neonatal intensive care unit (NICU) parental perceptions of child vulnerability and risk of vulnerable child syndrome utilizing cognitive behavioral therapy: randomized controlled trial.
Neonatal intensive care unit (NICU) parental emotional trauma can distort parental perceptions of child vulnerability (PPCV), resulting in adverse child developmental outcomes, known as Vulnerable Child Syndrome (VCS). We hypothesize utilizing a novel trauma-informed cognitive behavioral therapy (CBT) intervention will reduce PPCV in premature NICU infants' parents. English and Spanish speaking parents of preterm infants (<31 weeks gestational age) were randomized from April 2019 to March 2020 to receive either a 5-session trauma-informed CBT intervention created for this study educating parents on PPCV concepts, or to a control group receiving standard of care. Principal outcome measure was PPCV change measured by the Vulnerable Baby Scale (VBS) scores from enrollment (33 weeks post menstrual age) to study end (6 months chronological age). 8 control and 12 intervention families completed the study (n = 42 randomized) due to COVID-19 mandatory research pause. CBT intervention group had a median VBS decrease of 6 points vs. 0 point in controls (P = 0.07). Post-hoc Bayesian analysis of VBS PPCV reduction (utilized due to limited n) favored CBT to control by 95%. This is the first parental trauma-informed CBT intervention to demonstrate a PPCV decrease and lower risk of development of VCS in a high-risk NICU population. A brief intervention shows promise in fostering improved parenting perceptions, behaviors, and outcomes. NICU parental trauma negatively impacts parental perceptions of child vulnerability and their parenting styles resulting in poor child developmental outcomes, summarized as Vulnerable Child Syndrome (VCS). Currently, there is no effective treatment standard of care to address this important clinical issue. This manuscript contributes to our understanding of the following: Trauma-informed cognitive behavioral therapy lowers parents' perceptions of vulnerability in an at-risk NICU population. This is the first published intervention to demonstrate efficacy in reducing NICU parental perceptions of child vulnerability, a key contributor to VCS. Implementation of this intervention with NICU families has the potential to reduce the risk of VCS and improve parent-child outcomes and child developmental outcomes. ClinicalTrials.gov identifier: NCT03906435.
Long bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.
Diaphyseal overgrowth is a well-documented complication of long bone fracture in orthopedic studies, but it is not a condition commonly mentioned in the forensic literature as a possible indicator of child abuse. Here we present an occurrence of humeral hypertrophy associated with a physeal fracture to the left distal humerus in a case of infant child abuse. Humeral overgrowth was present in this infant along with superficial bruising, other humeral fractures, rib fractures, and vertebral injuries consistent with battered child syndrome. In 2002, the humeri, lower ribs, and vertebrae of this infant were examined for evidence of injury by Phillip Walker using gross observations, radiographs, and CT scans. After completion of his case report and before the remains were returned to the Medical Examiner, one of the authors used 3D surface scan imaging to generate digital models of the humeri in order to calculate the volume of each bone for purposes of size comparison. The difference in volume was notable and consistent with other measurements demonstrating hypertrophy of the left humerus. This case report combines the results of these earlier analyses with information drawn from original case files and more recent clinical studies to demonstrate that humeral asymmetry caused by hypertrophy from a fracture can provide relevant evidence of previous injury in cases of child abuse, even when the fracture is no longer visible in radiographs. This study also highlights the utility of combining 3D surface scan imaging with other radiographic methods when conducting medicolegal casework.
Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
Newborn screening (NBS) programs began in the 1960s in the US and Europe. Systematically offered at birth, these programs enable the early detection of serious, rare, inherited diseases, facilitating timely treatment and improving survival rates. The range of detectable diseases has expanded significantly, with inclusion criteria evolving since the programs' inception. Recent advances in genomics now allow for the detection of all DNA variant, enabling the identification of conditions typically diagnosed later in life and/or for which no effective treatment or preventive interventions are currently available. This expansion raises ethical and psychosocial concerns. To explore the psychosocial challenges associated with the expansion of NBS. Between May 2022 and March 2024, a global scoping review was conducted using three databases and gray literature. PRISMA guidelines were followed, and thematic analysis was applied to synthesize findings. Of 623 articles identified between 1997 and 2024, 68 met inclusion criteria, with nine additional gray literature references, for a total of 77 publications. Most studies originated from North America (n = 45) and Europe (n = 26), predominantly in healthcare sciences (n = 41), particularly medicine (n = 29), and in humanities and social sciences (n = 23), especially psychology (n = 14). The literature mainly addressed parents' experiences during the early years following an abnormal NBS result; few studies explored healthcare professionals' or patients' perspectives. Three core thematic categories were identified: (1) parents' experience of abnormal results and the impact on parent-child relationships; (2) strategies to mitigate psychosocial risks, including professional and public education; and (3) challenges related to NBS expansion. These themes were interpreted as higher-level psychosocial constructs: (1) anxious and depressive dimensions of parental responses; (2) Vulnerable Child Syndrome as a construct shaping parental perceptions and caregiving practices; and (3) psychosocial implications of NBS expansion. Parental anxiety and depression were the most studied outcomes, particularly following abnormal or false-positive results. Current professional training and public education appear insufficient given rapid NBS evolution. Viewing NBS as a continuous process within family-healthcare relationships may help mitigate psychosocial risks. Further research in psychology and social sciences is critical to better understand and address psychosocial risks, particularly for late-onset conditions and those without current treatment or prevention options.
Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
Incontinentia pigmenti and CHILD syndrome are genodermatoses characterized by an X-linked dominant inheritance pattern, resulting from pathogenic variants in the IKBKG and NSDHL genes, respectively. This study examines 3 pediatric patients exhibiting a compatible phenotype with inconclusive genetic studies, aiming to evaluate the diagnostic utility of optical genome mapping (OGM) in detecting alterations that could elucidate these conditions. The identified structural variants consisted of deletions of varying sizes in the Xq28 cytoband, encompassing regions that contain exons. OGM demonstrates advantages over other techniques for identifying structural variants. This observation highlights how advancements in cytogenomics enhance the resolution with which cases previously inaccessible through conventional cytogenetics can now be investigated.
Publicações recentes
Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
Interpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.
Childhood Interstitial Lung Disease (chILD) Associated With Toxic Chemical Inhalation Exposures: A State-of-the-Art Review.
Burden of chronic disease on NICU families: developmental outcomes, psychological effects, and vulnerable child syndrome.
📚 EuropePMC389 artigos no totalmostrando 116
Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
Frontiers in psychologyDiagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
Molecular syndromologyInterpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.
CureusChildhood Interstitial Lung Disease (chILD) Associated With Toxic Chemical Inhalation Exposures: A State-of-the-Art Review.
Pediatric pulmonologyBurden of chronic disease on NICU families: developmental outcomes, psychological effects, and vulnerable child syndrome.
Journal of perinatology : official journal of the California Perinatal AssociationThe Middle Child Syndrome of Kawasaki Disease: Immunoglobulin-Responsive Patients With Progressive Coronary Lesions.
The Canadian journal of cardiologyA Hypomorphic Variant in Surfactant Protein B Deficiency: Survival of Two Patients.
Pediatric pulmonologyNon-accidental Trauma as an Example of an Underestimated Problem in Pediatrics: Maltreated Child Syndrome and Shaken Baby Syndrome.
CureusColonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency.
Molecular genetics and metabolismCHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.
The Journal of dermatological treatmentReduction of neonatal intensive care unit (NICU) parental perceptions of child vulnerability and risk of vulnerable child syndrome utilizing cognitive behavioral therapy: randomized controlled trial.
Pediatric researchLong bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.
Journal of forensic sciencesComprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
The Journal of steroid biochemistry and molecular biologyThe battered who commit homicide; an overview of battered person's syndrome and battered child syndrome in Canadian and American contexts.
Frontiers in psychiatryMommy, am I good? Case report of a 12-year-old boy with abused child syndrome.
Postepy psychiatrii neurologiiUnilateral widespread inflammatory linear verrucous epidermal nevus with ipsilateral limb contracture along the lines of Blaschko: A case report.
The Journal of international medical researchCultural and religious structures influencing the use of maternal health services in Nigeria: a focused ethnographic research.
Reproductive healthImprovement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream.
Acta dermato-venereologicaGastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
The American journal of gastroenterology5% Simvastatin Ointment as Treatment for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome in a 4-year-old Female: A Case Report.
Acta medica Philippina[Only a wart?-Characteristic skin changes in CHILD syndrome].
Dermatologie (Heidelberg, Germany)Improving parental mental health in the perinatal period: A review and analysis of quality improvement initiatives.
Seminars in perinatologyHurried Child Syndrome in Schools: A Blessing or Curse? Understanding the Causes and Implications on the Well-Being of the Hurried Child in Ebonyi State, Nigeria.
Journal of evidence-based social work (2019)Oligometastatic Prostate Cancer-The Middle Child Syndrome.
Journal of clinical medicineX-linked genodermatoses from diagnosis to tailored therapy.
La Clinica terapeuticaArabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.
International journal of molecular sciencesNeurodevelopmental, Mental Health, and Parenting Issues in Preterm Infants.
Children (Basel, Switzerland)Bilateral verruciform lesions: A new CHILD syndrome presentation.
Indian journal of dermatology, venereology and leprology[Verrucous exophytic tumor of the glans penis].
Dermatologie (Heidelberg, Germany)Anesthetic management of CHILD syndrome: Not a child's play!
Journal of anaesthesiology, clinical pharmacologyEtiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Molecular genetics & genomic medicineVulnerable Child Syndrome in the International Community.
Pediatric annalsAbusive head injuries in infants: from founders to denialism and beyond.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe role of the pediatric neurosurgeon in abusive head injuries: a survey of members of the International Society for Pediatric Neurosurgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
Pediatric dermatologyNitrate removal by combining chemical and biostimulation approaches using micro-zero valent iron and lactic acid.
The Science of the total environmentAn Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.
Pediatrics[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].
Andes pediatrica : revista Chilena de pediatriaMusculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.
Clinical dysmorphologyCutaneous mosaicism: Special considerations for women.
International journal of women's dermatology[The use of clinical molecular and genetic tests in forensic medical opinions].
Archiwum medycyny sadowej i kryminologiiA novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Molecular genetics & genomic medicineRapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.
Pediatric dermatologyThe Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Current problems in diagnostic radiologyAnesthetic considerations of CHILD syndrome.
Journal of anaesthesiology, clinical pharmacologyAbusive head trauma: Canadian and global perspectives.
Pediatric radiologyPerceptions of child vulnerability in first-time mothers who conceived using assisted reproductive technology.
Journal of reproductive and infant psychologyPig Bite Injury Mimicking as Battered Baby Syndrome Leading to Bilateral Foot Amputation in a Toddler: A Diagnostic Dilemma and a Rare Case Report.
Journal of orthopaedic case reportsVulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.
Early human developmentErosive Tooth Wear, Presence of Parafunctional Habits and Tooth Injuries-Occurrence in a Group of Children and Adolescents Exposed to Domestic Violence.
The Journal of clinical pediatric dentistry[Diagnosis of complete transphyseal separation of the distal humerus].
Ugeskrift for laegerMutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice.
Experimental dermatologyCHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
International journal of dermatologyNSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.
GenesNovel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.
BMJ case reportsTopical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.
International journal of pharmaceutical compoundingVulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
The Journal of pediatricsNovel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
BMC medical geneticsCharacteristics and Hospital Costs of Spica Cast Treatment of Non-accidental-related Diaphyseal Femoral Fractures in Children Before Walking Age.
Journal of pediatric orthopedicsVulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives.
Acta paediatrica (Oslo, Norway : 1992)The impact of social distancing on pediatric neurosurgical emergency referrals during the COVID-19 pandemic: a prospective observational cohort study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA four-year-old Nigerian boy with battered child syndrome: implications for public health.
The Pan African medical journalA new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Molecular genetics & genomic medicineRetinal and visual function in infants with non-accidental trauma and retinal hemorrhages.
Documenta ophthalmologica. Advances in ophthalmologyThe Implementation of a Pediatric Nonaccidental Trauma Evaluation Protocol: A Quality Improvement Analysis.
Pediatric emergency careCHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.
Anais brasileiros de dermatologiaVulnerable Child Syndrome.
Pediatrics in reviewIdentification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
Oral surgery, oral medicine, oral pathology and oral radiologyMale CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
American journal of medical genetics. Part AWhole-Body MRI in Children and Adolescents - S1 Guideline.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinHistological ageing of fractures in infants: a practical algorithm for assessing infants suspected of accidental or non-accidental injury.
HistopathologyBehavioural beliefs of Ghanaian radiographers and reporting of child physical abuse.
Radiography (London, England : 1995)Hyperactive Child Syndrome and Estimated Life Expectancy at Young Adult Follow-Up: The Role of ADHD Persistence and Other Potential Predictors.
Journal of attention disordersNot lost to follow-up: A rare case of CHILD syndrome in a boy reappears.
JAAD case reportsRisk factors for avoidable transfer to a pediatric trauma center among patients 2 years and older.
The journal of trauma and acute care surgeryInsurance status and pediatric mortality in nonaccidental trauma.
The Journal of surgical researchUse of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.
JAMA dermatologyPathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy.
JAAD case reportsBattered child syndrome in the records of the Department of Forensic Medicine, Medical University of Białystok.
Archiwum medycyny sadowej i kryminologii[Femur shaft fractures in infants should be considered despite no known trauma].
Ugeskrift for laegerCHILD syndrome: A modified pathogenesis-targeted therapeutic approach.
American journal of medical genetics. Part ACHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.
Journal of the European Academy of Dermatology and Venereology : JEADVParavertebral calcification as a potential indicator for nonaccidental trauma.
Journal of radiology case reportsNational study shows that abusive head trauma mortality in Sweden was at least 10 times lower than in other Western countries.
Acta paediatrica (Oslo, Norway : 1992)The frequency of nonaccidental trauma in children under the age of 3 years with femur fractures: is there a better cutoff point for universal workups?
Journal of pediatric orthopedics. Part BA Pilot Study of Trauma-Focused Cognitive-Behavioral Therapy Delivered via Telehealth Technology.
Child maltreatmentChildhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.
Orphanet journal of rare diseasesA Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.
G3 (Bethesda, Md.)Pediatric Boot Camp Series: Infant With Altered Mental Status and Seizure-A Case of Child Abuse.
MedEdPORTAL : the journal of teaching and learning resources[Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFracture and Nonaccidental Injury: A Case Report of a Lateral Condylar Fracture in a 13 Month Old.
Pediatric emergency careOnly child syndrome in snakes: Eggs incubated alone produce asocial individuals.
Scientific reports[Battered child syndrome: clinical and radiological aspects].
The Pan African medical journalThe radiologist's role in child abuse: imaging protocol and differential diagnosis.
RadiologiaAcute Subdural Hematoma in Infants with Abusive Head Trauma: A Literature Review.
Neurologia medico-chirurgicaSkeletal and radiological manifestations of child abuse: Implications for study in past populations.
Clinical anatomy (New York, N.Y.)[Retinal bleeding and venous stasis in a 10-month-old infant after a fall?].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftCHILD syndrome with minimal limb abnormalities.
Journal of the European Academy of Dermatology and Venereology : JEADVNon-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.
Pediatric emergency careEpidermal nevus syndromes.
Handbook of clinical neurology'The bones tell a story the child is too young or too frightened to tell': The Battered Child Syndrome in Post-war Britain and America.
Social history of medicine : the journal of the Society for the Social History of MedicineThe Effect of Methylphenidate on Neurological Soft Signs in ADHD.
Psychiatry investigationBattered Child Syndrome; a Case Study.
Emergency (Tehran, Iran)CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
Pediatric dermatologyThe epidemiology of fractures in infants--Which accidents are preventable?
InjuryLarge deletions in the NSDHL gene in two patients with CHILD syndrome.
Acta dermato-venereologicaChildhood interstitial lung disease: A systematic review.
Pediatric pulmonologySome reflections from the past and some ideas for the future: The 2014 Kempe Oration.
Child abuse & neglectA novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
American journal of medical genetics. Part ASystemic conditions in children associated with pigmentary changes.
Clinics in dermatologyCHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.
Pediatric dermatologyHistologic Artifacts of Autolytic Müller Cell Foot Process Swelling in Postmortem Examination of Infant Eyes: Potential Pitfall in the Evaluation of Traumatic Retinal Hemorrhages.
JAMA ophthalmologyRetinal hemorrhages in nonaccidental trauma: look at susceptibility-weighted imaging on pediatric MRI.
Pediatric neurologyAnalysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
Human molecular geneticsRadiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Pediatric radiologySkin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy.
Acta dermato-venereologicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome CHILD.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Reduction of neonatal intensive care unit (NICU) parental perceptions of child vulnerability and risk of vulnerable child syndrome utilizing cognitive behavioral therapy: randomized controlled trial.
- Long bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.
- Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
- Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
- Interpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.
- Childhood Interstitial Lung Disease (chILD) Associated With Toxic Chemical Inhalation Exposures: A State-of-the-Art Review.
- Burden of chronic disease on NICU families: developmental outcomes, psychological effects, and vulnerable child syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139(Orphanet)
- OMIM OMIM:308050(OMIM)
- MONDO:0010621(MONDO)
- GARD:6039(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3508568(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
