Raras
Buscar doenças, sintomas, genes...
Síndrome CHILD
ORPHA:139CID-10 · Q87.8CID-11 · LD24.04OMIM 308050DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
2 ensaios
8 total registrados no ClinicalTrials.gov
Publicações científicas
594 artigos
Último publicado: 2025

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
60
pacientes catalogados
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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
17 sintomas
🧬
Pele e cabelo
9 sintomas
🫘
Rins
4 sintomas
💪
Músculos
3 sintomas
😀
Face
3 sintomas
📏
Crescimento
2 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

100%prev.
Ausência da falange média do 2º dedo
Obrigatório (100%)
100%prev.
HP:0003577
Frequência: 3/3
100%prev.
Aplasia da falange distal do 2º dedo
Obrigatório (100%)
100%prev.
Ortoqueratose
Obrigatório (100%)
100%prev.
Sindactilia dos dedos
Obrigatório (100%)
100%prev.
Aplasia da falange distal do 3º dedo
Obrigatório (100%)
64sintomas
Muito frequente (19)
Frequente (10)
Ocasional (24)
Muito raro (3)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 64 características clínicas mais associadas, ordenadas por frequência.

Ausência da falange média do 2º dedoAbsent middle phalanx of 2nd finger
Obrigatório (100%)100%
HP:0003577
Frequência: 3/3100%
Aplasia da falange distal do 2º dedoAplasia of the distal phalanx of the 2nd finger
Obrigatório (100%)100%
OrtoqueratoseOrthokeratosis
Obrigatório (100%)100%
Sindactilia dos dedosFinger syndactyly
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico594PubMed
Últimos 10 anos116publicações
Pico201516 papers
Linha do tempo
2026Hoje · 2026🧪 1967Primeiro ensaio clínico📈 2015Ano 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: X-linked dominant.

NSDHLSterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

Endoplasmic reticulum membraneLipid droplet

VIAS BIOLÓGICAS (2)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
65.4 TPM
Fibroblastos
36.3 TPM
Vagina
35.7 TPM
Glândula adrenal
33.5 TPM
Linfócitos
32.8 TPM
OUTRAS DOENÇAS (2)
CK syndromeCHILD syndrome
HGNC:13398UniProt:Q15738

Variantes genéticas (ClinVar)

238 variantes patogênicas registradas no ClinVar.

🧬 NSDHL: GRCh38/hg38 Xq26.3-28(chrX:137491159-155700385)x2 ()
🧬 NSDHL: GRCh37/hg19 Xq23-28(chrX:113417246-155233731)x1 ()
🧬 NSDHL: GRCh37/hg19 Xq28(chrX:150351569-155233731)x1 ()
🧬 NSDHL: GRCh37/hg19 Xq27.3-28(chrX:145548062-155233731)x1 ()
🧬 NSDHL: G50R ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 56 variantes classificadas pelo ClinVar.

22
31
3
Patogênica (39.3%)
VUS (55.4%)
Benigna (5.4%)
VARIANTES MAIS SIGNIFICATIVAS
NSDHL: G50R [Pathogenic]
NSDHL: NM_015922.3(NSDHL):c.1100G>A (p.Arg367His) [Conflicting classifications of pathogenicity]
NSDHL: NM_015922.3(NSDHL):c.656C>T (p.Ala219Val) [Conflicting classifications of pathogenicity]
NSDHL: NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys) [Conflicting classifications of pathogenicity]
NSDHL: NM_015922.3(NSDHL):c.387del (p.Ile129fs) [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 6 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome CHILD

🗺️

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

8 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
99 papers (10 anos)
#1

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.

Pediatric research2026 Jan

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.

#2

Long bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.

Journal of forensic sciences2025 Jul

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.

#3

Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).

The American journal of gastroenterology2025 Apr 01
#4

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.

Frontiers in psychology2025

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.

#5

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

Molecular syndromology2025 Dec 19

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

Ver todas no PubMed

📚 EuropePMC389 artigos no totalmostrando 116

2025

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.

Frontiers in psychology
2025

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

Molecular syndromology
2025

Interpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.

Cureus
2025

Childhood Interstitial Lung Disease (chILD) Associated With Toxic Chemical Inhalation Exposures: A State-of-the-Art Review.

Pediatric pulmonology
2025

Burden of chronic disease on NICU families: developmental outcomes, psychological effects, and vulnerable child syndrome.

Journal of perinatology : official journal of the California Perinatal Association
2025

The Middle Child Syndrome of Kawasaki Disease: Immunoglobulin-Responsive Patients With Progressive Coronary Lesions.

The Canadian journal of cardiology
2025

A Hypomorphic Variant in Surfactant Protein B Deficiency: Survival of Two Patients.

Pediatric pulmonology
2025

Non-accidental Trauma as an Example of an Underestimated Problem in Pediatrics: Maltreated Child Syndrome and Shaken Baby Syndrome.

Cureus
2025

Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency.

Molecular genetics and metabolism
2025

CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.

The Journal of dermatological treatment
2026

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.

Pediatric research
2025

Long bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.

Journal of forensic sciences
2025

Comprehensive 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 biology
2025

The battered who commit homicide; an overview of battered person's syndrome and battered child syndrome in Canadian and American contexts.

Frontiers in psychiatry
2024

Mommy, am I good? Case report of a 12-year-old boy with abused child syndrome.

Postepy psychiatrii neurologii
2025

Unilateral widespread inflammatory linear verrucous epidermal nevus with ipsilateral limb contracture along the lines of Blaschko: A case report.

The Journal of international medical research
2024

Cultural and religious structures influencing the use of maternal health services in Nigeria: a focused ethnographic research.

Reproductive health
2024

Improvement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream.

Acta dermato-venereologica
2025

Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).

The American journal of gastroenterology
2024

5% 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
2024

[Only a wart?-Characteristic skin changes in CHILD syndrome].

Dermatologie (Heidelberg, Germany)
2024

Improving parental mental health in the perinatal period: A review and analysis of quality improvement initiatives.

Seminars in perinatology
2024

Hurried 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)
2023

Oligometastatic Prostate Cancer-The Middle Child Syndrome.

Journal of clinical medicine
2023

X-linked genodermatoses from diagnosis to tailored therapy.

La Clinica terapeutica
2023

Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.

International journal of molecular sciences
2023

Neurodevelopmental, Mental Health, and Parenting Issues in Preterm Infants.

Children (Basel, Switzerland)
2023

Bilateral verruciform lesions: A new CHILD syndrome presentation.

Indian journal of dermatology, venereology and leprology
2023

[Verrucous exophytic tumor of the glans penis].

Dermatologie (Heidelberg, Germany)
2022

Anesthetic management of CHILD syndrome: Not a child's play!

Journal of anaesthesiology, clinical pharmacology
2023

Etiological 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 &amp; genomic medicine
2022

Vulnerable Child Syndrome in the International Community.

Pediatric annals
2022

Abusive head injuries in infants: from founders to denialism and beyond.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

The 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 Neurosurgery
2022

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Pediatric dermatology
2022

Nitrate removal by combining chemical and biostimulation approaches using micro-zero valent iron and lactic acid.

The Science of the total environment
2022

An Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.

Pediatrics
2021

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Andes pediatrica : revista Chilena de pediatria
2022

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.

Clinical dysmorphology
2021

Cutaneous mosaicism: Special considerations for women.

International journal of women's dermatology
2022

[The use of clinical molecular and genetic tests in forensic medical opinions].

Archiwum medycyny sadowej i kryminologii
2022

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Molecular genetics &amp; genomic medicine
2022

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Pediatric dermatology
2022

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Current problems in diagnostic radiology
2021

Anesthetic considerations of CHILD syndrome.

Journal of anaesthesiology, clinical pharmacology
2021

Abusive head trauma: Canadian and global perspectives.

Pediatric radiology
2022

Perceptions of child vulnerability in first-time mothers who conceived using assisted reproductive technology.

Journal of reproductive and infant psychology
2020

Pig 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 reports
2021

Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.

Early human development
2020

Erosive 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
2020

[Diagnosis of complete transphyseal separation of the distal humerus].

Ugeskrift for laeger
2021

Mutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice.

Experimental dermatology
2021

CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.

International journal of dermatology
2020

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.

Genes
2020

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ case reports
2020

Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.

International journal of pharmaceutical compounding
2020

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

The Journal of pediatrics
2020

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

BMC medical genetics
2020

Characteristics and Hospital Costs of Spica Cast Treatment of Non-accidental-related Diaphyseal Femoral Fractures in Children Before Walking Age.

Journal of pediatric orthopedics
2021

Vulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives.

Acta paediatrica (Oslo, Norway : 1992)
2020

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 Neurosurgery
2020

A four-year-old Nigerian boy with battered child syndrome: implications for public health.

The Pan African medical journal
2020

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Molecular genetics &amp; genomic medicine
2020

Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages.

Documenta ophthalmologica. Advances in ophthalmology
2020

The Implementation of a Pediatric Nonaccidental Trauma Evaluation Protocol: A Quality Improvement Analysis.

Pediatric emergency care
2019

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.

Anais brasileiros de dermatologia
2019

Vulnerable Child Syndrome.

Pediatrics in review
2019

Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.

Oral surgery, oral medicine, oral pathology and oral radiology
2019

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

American journal of medical genetics. Part A
2019

Whole-Body MRI in Children and Adolescents - S1 Guideline.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2019

Histological ageing of fractures in infants: a practical algorithm for assessing infants suspected of accidental or non-accidental injury.

Histopathology
2019

Behavioural beliefs of Ghanaian radiographers and reporting of child physical abuse.

Radiography (London, England : 1995)
2019

Hyperactive Child Syndrome and Estimated Life Expectancy at Young Adult Follow-Up: The Role of ADHD Persistence and Other Potential Predictors.

Journal of attention disorders
2018

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears.

JAAD case reports
2019

Risk factors for avoidable transfer to a pediatric trauma center among patients 2 years and older.

The journal of trauma and acute care surgery
2018

Insurance status and pediatric mortality in nonaccidental trauma.

The Journal of surgical research
2018

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.

JAMA dermatology
2018

Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy.

JAAD case reports
2017

Battered child syndrome in the records of the Department of Forensic Medicine, Medical University of Białystok.

Archiwum medycyny sadowej i kryminologii
2018

[Femur shaft fractures in infants should be considered despite no known trauma].

Ugeskrift for laeger
2018

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

American journal of medical genetics. Part A
2018

CHILD 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 : JEADV
2017

Paravertebral calcification as a potential indicator for nonaccidental trauma.

Journal of radiology case reports
2018

National 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)
2018

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 B
2017

A Pilot Study of Trauma-Focused Cognitive-Behavioral Therapy Delivered via Telehealth Technology.

Child maltreatment
2017

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.

Orphanet journal of rare diseases
2017

A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

G3 (Bethesda, Md.)
2017

Pediatric Boot Camp Series: Infant With Altered Mental Status and Seizure-A Case of Child Abuse.

MedEdPORTAL : the journal of teaching and learning resources
2016

[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 genetics
2016

Fracture and Nonaccidental Injury: A Case Report of a Lateral Condylar Fracture in a 13 Month Old.

Pediatric emergency care
2016

Only child syndrome in snakes: Eggs incubated alone produce asocial individuals.

Scientific reports
2016

[Battered child syndrome: clinical and radiological aspects].

The Pan African medical journal
2016

The radiologist's role in child abuse: imaging protocol and differential diagnosis.

Radiologia
2016

Acute Subdural Hematoma in Infants with Abusive Head Trauma: A Literature Review.

Neurologia medico-chirurgica
2016

Skeletal and radiological manifestations of child abuse: Implications for study in past populations.

Clinical anatomy (New York, N.Y.)
2016

[Retinal bleeding and venous stasis in a 10-month-old infant after a fall?].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2016

CHILD syndrome with minimal limb abnormalities.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis.

Pediatric emergency care
2015

Epidermal nevus syndromes.

Handbook of clinical neurology
2015

'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 Medicine
2015

The Effect of Methylphenidate on Neurological Soft Signs in ADHD.

Psychiatry investigation
2015

Battered Child Syndrome; a Case Study.

Emergency (Tehran, Iran)
2015

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Pediatric dermatology
2016

The epidemiology of fractures in infants--Which accidents are preventable?

Injury
2015

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Acta dermato-venereologica
2015

Childhood interstitial lung disease: A systematic review.

Pediatric pulmonology
2015

Some reflections from the past and some ideas for the future: The 2014 Kempe Oration.

Child abuse &amp; neglect
2015

A 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 A
2015

Systemic conditions in children associated with pigmentary changes.

Clinics in dermatology
2015

CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.

Pediatric dermatology
2015

Histologic Artifacts of Autolytic Müller Cell Foot Process Swelling in Postmortem Examination of Infant Eyes: Potential Pitfall in the Evaluation of Traumatic Retinal Hemorrhages.

JAMA ophthalmology
2015

Retinal hemorrhages in nonaccidental trauma: look at susceptibility-weighted imaging on pediatric MRI.

Pediatric neurology
2015

Analysis 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 genetics
2015

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatric radiology
2015

Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy.

Acta dermato-venereologica
Ver todos os 389 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome CHILD.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome CHILD

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. 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.
    Pediatric research· 2026· PMID 40374965mais citado
  2. Long bone asymmetry and hemihypertrophy as a skeletal marker of child abuse.
    Journal of forensic sciences· 2025· PMID 40339150mais citado
  3. Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
    The American journal of gastroenterology· 2025· PMID 39466221mais citado
  4. Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
    Frontiers in psychology· 2025· PMID 41869683mais citado
  5. Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
    Molecular syndromology· 2025· PMID 41625319mais citado
  6. Interpreter Child Syndrome Leading to Parentification and Anxiety in a Refugee Girl: A Case Report.
    Cureus· 2025· PMID 41573490recente
  7. Childhood Interstitial Lung Disease (chILD) Associated With Toxic Chemical Inhalation Exposures: A State-of-the-Art Review.
    Pediatr Pulmonol· 2025· PMID 41306063recente
  8. Burden of chronic disease on NICU families: developmental outcomes, psychological effects, and vulnerable child syndrome.
    J Perinatol· 2025· PMID 41198850recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139(Orphanet)
  2. OMIM OMIM:308050(OMIM)
  3. MONDO:0010621(MONDO)
  4. GARD:6039(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Síndrome CHILD
Compêndio · Raras BR

Síndrome CHILD

ORPHA:139 · MONDO:0010621
Prevalência
<1 / 1 000 000
Casos
60 casos conhecidos
Herança
X-linked dominant
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Ensaios
2 ativos
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0265267
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades