Um distúrbio raro e congênito do desenvolvimento, caracterizado pela presença de pequenos pontos de calcificação (depósitos de cálcio) espalhados na cartilagem hialina, encurtamento e rigidez das articulações, deficiência intelectual e ictiose (uma condição de pele seca e escamosa).
Introdução
O que você precisa saber de cara
Um distúrbio raro e congênito do desenvolvimento, caracterizado pela presença de pequenos pontos de calcificação (depósitos de cálcio) espalhados na cartilagem hialina, encurtamento e rigidez das articulações, deficiência intelectual e ictiose (uma condição de pele seca e escamosa).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 121 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 368 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
10 genes identificados com associação a esta condição.
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123, PubMed:33239752). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity) (PubMed:24108123, PubMed:35238077)
Peroxisome membrane
Peroxisomal fatty acyl-CoA reductase 1 disorder
An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
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.
Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation
Secreted
Keutel syndrome
An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid
Nucleus inner membraneEndoplasmic reticulum membraneCytoplasmNucleus
Pelger-Huet anomaly
An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.
Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, wh
Cytoplasm, cytosolPeroxisome matrix
Peroxisome biogenesis disorder complementation group 11
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16314507, PubMed:17157249, PubMed:17428317, PubMed:21976670, PubMed:26344566, PubMed:7706321, PubMed:7719337, PubMed:7790377). Binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol, and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 dock
Cytoplasm, cytosolPeroxisome matrix
Peroxisome biogenesis disorder 2A
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070)
Golgi apparatus, Golgi stack
Chondrodysplasia punctata 1, X-linked recessive
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.
Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between EBP and 7-dehydrocholesterol reductase/DHCR7 (PubMed:15175332, PubMed:20615952). This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hyd
Endoplasmic reticulum membraneNucleus envelopeCytoplasmic vesicle
Chondrodysplasia punctata 2, X-linked dominant
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis
Peroxisome membranePeroxisome
Rhizomelic chondrodysplasia punctata 3
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology
Peroxisome membrane
Rhizomelic chondrodysplasia punctata 2
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Variantes genéticas (ClinVar)
329 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 991 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
22 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 — Condrodisplasia pontuada
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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
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Outros ensaios clínicos
4 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.
Peroxisome biogenesis disorders (PBDs) are a genetically heterogeneous group of metabolic diseases caused by impaired peroxisome assembly and function. PBDs exhibit striking clinical variability, ranging from lethal neonatal forms (e.g., Zellweger spectrum disorders) to milder childhood-onset presentations such as rhizomelic chondrodysplasia punctata. While elevated levels of very-long-chain fatty acids (VLCFAs) remain a key diagnostic feature, the existence of unusual cases with normal plasma VLCFA levels highlight the limitations of relying solely on this biochemical marker for diagnosis. Genetic variations in PEX6, an important peroxisome biogenesis factor, contribute significantly to this phenotypic diversity, with missense variants often associated with less severe disease compared to truncating mutations. Recent studies further implicate dysregulated pexophagy-a targeted autophagic degradation of peroxisomes-in the underlying disease mechanisms. This review underscores the necessity for a multifaceted diagnostic approach that, thorough clinical assessment, detailed biochemical evaluation, and advanced molecular genetic testing, seeks to improve diagnostic accuracy and patient care, particularly in pediatric populations. Advancements in identifying novel biomarkers and targeted therapies offer promise for tailored interventions, underscoring the importance of precision medicine in optimizing outcomes for pediatric PBD patients.
Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
We report the first documented case of airway involvement in Conradi-Hünermann-Happle syndrome (CDPX2), an X-linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2-month-old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross-sectional imaging demonstrated extensive laryngotracheal calcifications. Serial endoscopic balloon dilations successfully restored airway patency, enabled weaning from respiratory support, and avoided tracheostomy, expanding the recognized clinical spectrum of CDPX2 and highlighting the potential role of minimally invasive airway intervention in selected cases.
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an X-linked dominant inherited disorder caused by variants in the EBP gene, which primarily affects the skin, bones, and eyes. To describe the clinical manifestations and genetic mutation in a 7-year-old girl presenting with severe scoliosis, hydronephrosis, and other skeletal abnormalities. The patient's medical history was collected from birth. Exome sequencing was performed to identify candidate genes, and the detected variant was confirmed by Sanger sequencing. Exome sequencing revealed a de novo EBP mutation (c.452A>G, p.Gln151Arg) in the patient. The patient was diagnosed with X-linked chondrodysplasia punctata type 2 (CDPX2). This novel missense mutation expands the mutation spectrum of CDPX2 and underscores the clinical utility of exome sequencing in diagnosing this condition.
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
The peroxisome biogenesis disorders (PBDs) are a group of rare inherited autosomal recessive diseases characterized by motor and cognitive neurological dysfunction, hypotonia, seizures, feeding difficulties, retinopathy, sensorineural hearing loss, hepatic and renal abnormalities, and chondrodysplasia punctata of long bones, and the clinical expression is variable. Exome sequencing and Sanger sequencing were used to identify the genetic defect for PBDs in a two-generation non-consanguineous Han-Chinese pedigree. Compound heterozygous variants, a novel splicing variant c.113-2A>G and a reported substitution c.890T>C (p.Leu297Pro), in the peroxisomal biogenesis factor 10 gene (PEX10) were detected. The splicing variant c.113-2A>G led to a canonical splice acceptor site inactivation, exon 2 skipping, and in-frame deletions (p.Ala39_Gly65del). The three patients had similar phenotypes of milder PBDs, which were further genetically determined as PBD6B. The findings extend the PEX10 variant spectrum and may provide new insights into PBDs causation and diagnosis, with implications for genetic counseling and clinical management.
Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess the efficacy of treatment and the well-being of patients. Our study aimed to develop a valid quality-of-life (QOL) caregiver-reported survey instrument, RhizoQOL, to be used as a supportive endpoint in RCDP clinical trials. Development of the RhizoQOL survey tool included three RCDP caregiver focus groups to elicit concepts to serve as potential domains in a QOL survey instrument for RCDP, pilot survey development and initial testing, cognitive interviewing of revised survey drafts to determine content validity, as well as a three-month longitudinal study for reliability and internal consistency of the survey instrument. Twenty-eight caregivers participated in the focus groups, reporting that concepts that could be appropriate domains of QOL in RCDP include psychosocial behavior, feeding symptoms, mobility symptoms, respiratory symptoms, seizures and related activity, and impact of treatment. Following pilot survey testing (n = 22) and stakeholder feedback, a revised pilot survey instrument was administered to five caregivers for cognitive interviewing. This resulted in a revised survey instrument with 31 question items, six domains, and a 1-5 Likert scale item response assessing frequency or severity of event in the question item. Longitudinal testing (n = 18) of the revised survey instrument found the average response score was 1.98 ± 0.97 for all question items, and a Cronbach's alpha value of 0.856, suggesting strong intra-survey question reliability. Using individual question item results from reliability testing, linear regression modeling, and testing for required magnitude of significant treatment effects, eight question items were removed from the survey instrument, resulting in a total of 23 question items within 6 discrete domains. The final RhizoQOL survey instrument, consisting of 23 questions, assesses the symptoms and experiences of RCDP patients as observed by caregivers and serves as a novel clinical outcome assessment for RCDP therapeutic clinical trials to assess the impacts of RCDP and support the overall effectiveness of treatments.
Publicações recentes
Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.
Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.
Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
Neonatal X-linked recessive chondrodysplasia punctata.
📚 EuropePMC419 artigos no totalmostrando 170
Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.
Annals of pediatric endocrinology & metabolismAirway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
The LaryngoscopeMetabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
BiomoleculesNeonatal X-linked recessive chondrodysplasia punctata.
QJM : monthly journal of the Association of PhysiciansChondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.
Indian journal of pediatricsBrachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant.
Prenatal diagnosisChondrodysplasia Punctata: A Rare Entity Identified Incidentally.
CureusEarly Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata).
Journal of cutaneous pathologyMolecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.
Journal of thrombosis and haemostasis : JTHA diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata.
JPMA. The Journal of the Pakistan Medical AssociationNeurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryX-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGExploration of susceptibility genes in type 2 diabetes mellitus among Chinese Hui and Han people.
JPMA. The Journal of the Pakistan Medical AssociationA bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.
Genetics, selection, evolution : GSEA Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
The application of clinical geneticsIdentification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
PloS oneX-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
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Orphanet journal of rare diseasesSevere Kyphosis with Os Odontoideum in Chondrodysplasia Punctata and the Case for Occipitocervical Fusion: A Case Report.
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Molecular syndromologyPrenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Prenatal diagnosisObstetrics and neonatal outcomes of binder phenotype with antenatal diagnosis: A case report and literature review.
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Pediatric dermatologyHuman Genetics of Atrial Septal Defect.
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Polish journal of microbiologyPeroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions.
BiomoleculesIntriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
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Molecular genetics and metabolism reportsX-linked genodermatoses from diagnosis to tailored therapy.
La Clinica terapeuticaCervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case.
Journal of neurosurgery. Case lessonsA new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Journal of inherited metabolic diseaseManagement of Tracheobronchial Stenosis in Chondrodysplasia Punctata.
The LaryngoscopeSkeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ceskoslovenska patologieNeonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.
Clinical case reportsDifferential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies.
Investigative ophthalmology & visual scienceQuantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.
Clinica chimica acta; international journal of clinical chemistrySurgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity: A Case Report.
JBJS case connectorOverlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
International journal of molecular sciencesConradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report.
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Pediatric dermatologyIchthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab.
Journal of the European Academy of Dermatology and Venereology : JEADVA Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.
CureusAntenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
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Pediatric dermatologyVery-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry.
Methods in molecular biology (Clifton, N.J.)Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
American journal of medical genetics. Part AA Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Frontiers in cell and developmental biologyRhizomelic Chondro-Dysplasia Punctate (RCDP).
Indian pediatricsTricky Isomers-The Evolution of Analytical Strategies to Characterize Plasmalogens and Plasmanyl Ether Lipids.
Frontiers in cell and developmental biologyClinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Scientific reportsConradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.
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Clinical dysmorphologyA Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.
CureusAn Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.
Annals of Indian Academy of NeurologyRetrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Journal of human geneticsConradi-Hünermann-Happle syndrome with minimal signs.
Pediatric dermatologyPrenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.
Frontiers in geneticsGGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.
American journal of medical genetics. Part AA case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis.
Indian journal of dermatology, venereology and leprologyPustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.
Acta dermato-venereologicaHyperemesis gravidarum and vitamin K deficiency: a systematic review.
The British journal of nutritionPlasmalogens regulate the AKT-ULK1 signaling pathway to control the position of the axon initial segment.
Progress in neurobiologyGenetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.
Orphanet journal of rare diseasesA new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.
Molecular genetics & genomic medicinePosterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report.
JBJS case connectorTwins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
American journal of medical genetics. Part AA rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.
Clinical geneticsA Neonate with Feathery Scales.
The Journal of pediatricsClinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Journal of inherited metabolic diseaseGeneral Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report.
Physical & occupational therapy in pediatricsConradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
Dermatology online journalGenome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.
Molecular genetics and metabolism reportsNatural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Journal of inherited metabolic diseaseChondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.
Pediatric dermatologyUnequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice.
Analytical chemistryNovel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.
Frontiers in geneticsMaternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
American journal of medical genetics. Part AOral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice.
Journal of inherited metabolic diseaseZebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency.
Disease models & mechanismsA 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 medicineGenetics of Inherited Ichthyoses and Related Diseases.
Acta dermato-venereologicaOral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.
Disease models & mechanismsRhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.
eNeurologicalSciRhizomelic chondrodysplasia punctata morbidity and mortality, an update.
American journal of medical genetics. Part AThe type-2 peroxisomal targeting signal.
Biochimica et biophysica acta. Molecular cell researchBiallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
Journal of medical geneticsCervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.
Journal of pediatric orthopedicsPrenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
BMC pediatricsStructural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.
Nature communicationsCorrespondence Reply to Kitaoka et al.
Pediatric neurologyThe complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?
Prenatal diagnosisMale CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
American journal of medical genetics. Part AChondrodisplasia Punctata of Hip Joints on Routine Radiography Provided a Diagnostic Clue of Zellweger Syndrome.
Pediatric neurologyChondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders.
Pediatric neurologyMixed connective tissue disease in pregnancy: A case series and systematic literature review.
Obstetric medicineCase of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*).
The Journal of dermatologySuccessful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata.
Case reports in orthopedicsMacroglossia, Dry Skin, Developmental Delay, and Stippled Epiphysis: A Treatable Condition.
Pediatric neurologyLichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.
Journal of cutaneous pathologyLeukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.
Brain pathology (Zurich, Switzerland)X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.
MedicineNeonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).
BMJ case reportsApplication of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
Journal of biochemistryChondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up.
The Australasian journal of dermatologyNew splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
European journal of human genetics : EJHGChondrodysplasia Punctata with Severe Airway Stenosis.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsBinder syndrome: a phenotype rather than a definitive diagnosis?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyA case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata.
Clinical dysmorphologySterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
The British journal of dermatologyStippled Calcifications over Bilateral Epiphyses of Humeri.
The Journal of pediatricsFetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.
The application of clinical geneticsDystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome.
JAAD case reportsThe Role of Trehalose 6-Phosphate in Crop Yield and Resilience.
Plant physiologySevere nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
Pediatric radiologyHomozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
Journal of medical geneticsNovel use of the Cochlear® Hybrid CI24REH cochlear implant.
Cochlear implants internationalComplex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Molecular genetics and metabolismFetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.
American journal of medical genetics. Part AA Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Acta dermato-venereologicaFamilial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
Cytogenetic and genome researchOccipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report.
JBJS case connectorNeonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
The Journal of perinatal & neonatal nursing[Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].
Revista chilena de pediatriaSevere phenotype of X-linked dominant chondrodysplasia punctata.
Clinical case reportsSurgical management of cervical spine deformity in chondrodysplasia punctata.
Journal of neurosurgery. PediatricsType 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
Journal of pediatric endocrinology & metabolism : JPEMConcurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Pediatric dermatologyChondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome.
Journal of Nepal Health Research CouncilDrosophila Courtship Conditioning As a Measure of Learning and Memory.
Journal of visualized experiments : JoVEIdentification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
Molecular genetics and metabolismReduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.
Journal of neurochemistryNeonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Clinical case reportsRigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.
SpineChondrodysplasia punctata presenting with tracheal obstruction.
International journal of pediatric otorhinolaryngologyRadiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia.
The Turkish journal of pediatricsUnfused Liver Segments: a Case Report of an Unknown Phenotype of the Conradi-Hünermann-Happle Syndrome.
Journal of gastrointestinal and liver diseases : JGLDGermline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.
Prenatal diagnosisRecombinant human dihydroxyacetonephosphate acyl-transferase characterization as an integral monotopic membrane protein.
Biochemical and biophysical research communicationsTympanoplasty for chondrodysplasia punctata: Case report.
Auris, nasus, larynxGrowth charts for individuals with rhizomelic chondrodysplasia punctata.
American journal of medical genetics. Part ARare Case of Rhizomelic Chondrodysplasia Punctata.
Journal of orthopaedic case reportsClinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
NeuropediatricsInherited ichthyosis: Syndromic forms.
The Journal of dermatologyOcular manifestations of genetic skin disorders.
Clinics in dermatologyEffect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.
Pediatric neurologyPRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.
Genetic counseling (Geneva, Switzerland)Peroxisomes in brain development and function.
Biochimica et biophysica actaWhole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Case reports in geneticsBrachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Molecular cytogeneticsCongenital heart defects common in rhizomelic chondrodysplasia punctata.
American journal of medical genetics. Part APhytol in a pharma-medico-stance.
Chemico-biological interactionsA novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Human molecular geneticsALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.
American journal of medical genetics. Part AKeratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
The British journal of dermatologyAdult presentation of X-linked Conradi-Hünermann-Happle syndrome.
American journal of medical genetics. Part AEmopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
Indian journal of dermatologyRhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Journal of clinical research in pediatric endocrinologySevere X-linked chondrodysplasia punctata in nine new female fetuses.
Prenatal diagnosisRadiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Pediatric radiologyTargeted carrier screening for four recessive disorders: high detection rate within a founder population.
European journal of medical geneticsChondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.
Clinical dysmorphologyTM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Frontiers in geneticsAssociações
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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.
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.
- Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
- A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
- Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
- Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder.
- Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.
- Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.
- Neonatal X-linked recessive chondrodysplasia punctata.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93442(Orphanet)
- MONDO:0019701(MONDO)
- GARD:8542(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1076060(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