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Rare Diseases Associated with Short Stature: Genetics, Pathogenesis and Therapy
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Rare Diseases Associated with Short Stature: Genetics, Pathogenesis and Therapy

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 15 March 2025 | Viewed by 1241

Special Issue Editor

Dr. Michal Ordak

E-Mail Website
Guest Editor
Department of Pharmacotherapy and Pharmaceutical Care, Medical University of Warsaw, St. Banacha 1, 02-097 Warsaw, Poland
Interests: skeletal dysplasias; dwarfism; biomarkers; mutations
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the genetic categorization of skeletal disorders, over 400 unique disease entities have been identified, with many presenting as short stature. The majority of these diseases are rare, with limited knowledge available and the literature often restricted to individual case reports. The insufficient understanding of these rare diseases associated with short stature, along with the limited accessibility of genetic testing, can lead to challenges for physicians when ordering appropriate tests and making accurate diagnoses in infants. Despite short stature being one of the most frequent reasons for consultations with growth specialists, only a small proportion of affected children receive a molecular diagnosis. In the literature, articles on this topic are continually being published, including case reports in which authors describe new genetic mutations and the biomarkers of rare disease entities associated with short stature. The aim of this Special Issue is to provide this group of patients with a comprehensive review so that they are informed of the current state of scientific knowledge.

Dr. Michal Ordak
Guest Editor

Manuscript Submission Information

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Keywords

  • skeletal disorders
  • dwarfism
  • skeletal dysplasias
  • short stature
  • biomarkers
  • mutations
  • rare disease

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Published Papers (1 paper)

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Review

16 pages, 251 KiB  
Review
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports
by Hubert Piwar, Michal Ordak and Magdalena Bujalska-Zadrozny
Int. J. Mol. Sci. 2024, 25(17), 9700; https://doi.org/10.3390/ijms25179700 - 7 Sep 2024
Viewed by 950
Abstract
Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal [...] Read more.
Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments. Full article
(This article belongs to the Special Issue Rare Diseases Associated with Short Stature: Genetics, Pathogenesis and Therapy)
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