Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Pediatric Rare Diseases: Genetics and Diagnosis
share announcement

Pediatric Rare Diseases: Genetics and Diagnosis

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 September 2025 | Viewed by 1127

Special Issue Editor

Dr. Antonio F. Martínez‐Monseny

E-Mail Website
Guest Editor
Department of Medical Genetics, Sant Joan de Deu Children's Hospital and Institut de Recerca Sant Joan de Deu, Barcelona, Spain
Interests: dysmorphology; clinical genetics; epigenetics; rare diseases; pediatrics

Special Issue Information

Dear Colleagues,

Genetic factors are fundamental in the diagnosis of many pediatric rare diseases, as approximately 70% of these conditions present in childhood. Recent advances in genomic sequencing technologies have significantly improved the ability to diagnose many of these rare diseases, but approximately 50% of pediatric cases remain undiagnosed. This highlights the continued challenges in the field and the urgent need for more effective diagnostic tools, as well as the integration of genomics with various omics technologies in order to obtain more accurate diagnoses. The correct referral of patients to specialized medical genetics units, along with comprehensive phenotyping, is still essential for early interventions. In addition, the incorporation of artificial intelligence (AI), equitable access to advanced genetic studies, and collaborative international networks are playing an increasingly important role in improving diagnostic precision.

A correct diagnosis not only provides crucial information for affected patients and families but also offers valuable counseling, preventive strategies, and access to targeted therapies. In the era of precision medicine, a deeper understanding of genotype–phenotype correlations can enhance individualized therapeutic approaches, improving clinical outcomes for pediatric patients with rare diseases.

This Special Issue, titled “Pediatric Rare Diseases: Genetics and Diagnosis”, aims to offer an updated perspective on the genetic bases and diagnostic strategies for pediatric rare diseases, welcoming contributions that explore the latest advancements, challenges, and opportunities in this rapidly evolving field.

Dr. Antonio F. Martínez‐Monseny
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare diseases
  • genetics
  • pediatrics
  • dysmorphology
  • molecular diagnosis
  • genetic syndromes
  • genome
  • precision medicine
  • phenotype

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

7 pages, 906 KB  
Article
CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families
by Jessica Archer, Shuxiang Goh, Christina Miteff, Sheridan O’Donnell, Kristen Park and Himanshu Goel
Genes 2025, 16(8), 972; https://doi.org/10.3390/genes16080972 - 18 Aug 2025
Viewed by 368
Abstract
Background: CRELD1 encodes a cell adhesion molecule initially implicated in atrioventricular septal defects (AVSDs). More recently, biallelic CRELD1 variants have been associated with syndromic and non-syndromic neurodevelopmental disorders (NDDs). Methods: We describe three individuals from unrelated families with compound heterozygous CRELD1 variants, [...] Read more.
Background: CRELD1 encodes a cell adhesion molecule initially implicated in atrioventricular septal defects (AVSDs). More recently, biallelic CRELD1 variants have been associated with syndromic and non-syndromic neurodevelopmental disorders (NDDs). Methods: We describe three individuals from unrelated families with compound heterozygous CRELD1 variants, identified through exome sequencing. Clinical and genetic data were reviewed to delineate shared and divergent features. Results: All three patients presented with developmental delay, intellectual disability, seizures, hypotonia, and dysmorphic facial features. Patient 1 and patient 2 carried a recurrent variant combination previously reported in five individuals, while Patient 3 harboured the recurrent frameshift p.(Gln320Argfs*25) variant in trans with a novel missense variant. The milder clinical course of patient 3 highlights phenotypic heterogeneity. Notably, none of the patients had cardiac anomalies or immunological abnormalities, further expanding the clinical spectrum associated with CRELD1. Conclusion: Our findings reinforce genotype–phenotype correlations and provide additional evidence that biallelic CRELD1 variants underlie a distinct autosomal recessive neurodevelopmental disorder, broadening both the phenotypic and genetic spectrum of this emerging syndrome. Full article
(This article belongs to the Special Issue Pediatric Rare Diseases: Genetics and Diagnosis)
►▼ Show Figures

Figure 1

14 pages, 1096 KB  
Article
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
by David Foz Felipe, Dídac Casas-Alba, Sara H. Sadok, Marina Toral Fernández, Lourdes Vega-Hanna, Laura Plaza, Asunción Vicente Villa, Judith Armstrong, Encarna Guillén-Navarro and Antonio F. Martínez-Monseny
Genes 2025, 16(8), 925; https://doi.org/10.3390/genes16080925 - 31 Jul 2025
Viewed by 501
Abstract
Diagnosing hypermobility disorders and Ehlers-Danlos syndrome (EDS) in children is challenging due to overlapping features with generalized joint hypermobility (GJH) and the lack of biomarkers. Background/Objectives: This study aims to describe the clinical and genetic features of pediatric EDS patients and identify [...] Read more.
Diagnosing hypermobility disorders and Ehlers-Danlos syndrome (EDS) in children is challenging due to overlapping features with generalized joint hypermobility (GJH) and the lack of biomarkers. Background/Objectives: This study aims to describe the clinical and genetic features of pediatric EDS patients and identify key comorbidities and correlations. Methods: This is a single-center observational study of patients under 18 diagnosed with suspicion of EDS (2018–2024) at a tertiary pediatric hospital. Diagnoses were made using 2017 criteria. Results: Forty-one patients (46% female; mean age 11.1 ± 2.8 years) were included. Based on 2017 criteria, 61% had hypermobile EDS (hEDS)/hypermobility spectrum disorder (HSD), 22% classical EDS, 7.3% vascular, and 9.7% other subtypes. Musculoskeletal (90.2%), cutaneous (68.3%), and psychiatric (56.1%) symptoms were most frequent. Significant associations included older age with psychiatric symptoms (p = 0.029), Beighton score with dislocations (p = 0.026), and less atrophic scarring in hEDS (p < 0.008). Genetic testing (73% performed) confirmed pathogenic variants (11 novel) in EDS with a known molecular cause. Conclusions: This study proposes a clinically guided approach and diagnostic algorithm for youth hypermobility, emphasizing precision medicine principles, while highlighting the urgent need for further research to identify hEDS biomarkers. Full article
(This article belongs to the Special Issue Pediatric Rare Diseases: Genetics and Diagnosis)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop