About an orphan disease: Seckel syndromeassociated with diabetes mellitus. Case report.

A propósito de una enfermedad huérfana: síndrome de Seckel asociado a diabetes mellitus

Introduction: The approach to short stature is complex, as there are multiple genetic diagnoses such as Seckel syndrome and primordial osteodisplastic dwarfism.
This case presents the phenotypic and radiographic manifestations to specify its
diagnosis despite the heterogeneity of these conditions. This process must be meticulous when clinical manifestations are variable and the patient cannot be classified
within existing literature, which limits and biases the evaluation for diagnosing a
genetic disorder. Case presentation: In this clinical case, the patient presented DM,
so the genetic relationship with Seckel syndrome was studied. Although no direct
link was found between them, an increase in IGF-1 concentration due to receptor
damage and its association with Seckel syndrome is described. A literature review
of the clinical features of Seckel syndrome was conducted, a condition which has
a low prevalence worldwide and considered a rare disease, with this case found in
Colombia, highlighting the need to be aware of this entity. Conclusion: The aim is
for healthcare professionals to gain academic knowledge to suspect and diagnose
rare diseases such as Seckel syndrome and its complications, in this case endocrine, and differentiate it from other forms of short stature such as MOPD II, even
without access to molecular studies.