Meier-Gorlin Syndrome

Last update 08 May 2025

Basic Info

Synonyms

EAR, PATELLA, SHORT STATURE SYNDROME, EPS, Ear, patella, short stature syndrome

+ [9]

Introduction

A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

Clinical Trials associated with Meier-Gorlin Syndrome

NCT04569149

/ RecruitingNot ApplicableIIT

Primordial Registry at Nemours/A. I. duPont Hospital for Children

The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

Start Date11 Mar 2008

Sponsor / Collaborator

Nemours Children's Clinic

100 Clinical Results associated with Meier-Gorlin Syndrome

100 Translational Medicine associated with Meier-Gorlin Syndrome

0 Patents (Medical) associated with Meier-Gorlin Syndrome

Literatures (Medical) associated with Meier-Gorlin Syndrome

01 Sep 2024·Clinical Genetics

Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant

Article

Author: Al Abdi, Lama ; Alkuraya, Fowzan S ; Codina-Solà, Marta ; Mehrjoo, Yosra ; Campeau, Philippe M ; Aldowaish, Abdullah ; Wurtele, Hugo ; Abouyousef, Omar ; Cueto-González, Anna M

AbstractMeier–Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of DNA replication. We previously reported that biallelic variants in GINS3 leading to amino acid changes at position 24 (p.Asp24) cause MGORS. Here, we describe the phenotype of a new individual homozygous for the Asp24Asn variant. We also report the clinical characteristics of an individual harboring a novel homozygous GINS3 variant (Ile25Phe) and features suggestive of MGORS. Modification of the corresponding residue in yeast Psf3 (Val9Phe) compromised S phase progression compared to a humanized Psf3 Val9Ile variant. Expression of Psf3 Val9Phe in yeast also caused sensitivity to elevated temperature and the replicative stress‐inducing drug hydroxyurea, confirming partial loss of function of this variant in vivo and allowing us to upgrade the classification of this variant. Taken together, these data validate the critical importance of the GINS DNA replication complex in the molecular etiology of MGORS.

01 Jul 2024·Birth Defects Research

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

Review

Author: Di Fede, Elisabetta ; Massa, Valentina ; Colombo, Elisa Adele ; Avagliano, Laura ; Parodi, Chiara ; Castiglioni, Silvia ; Taci, Esi ; Lettieri, Antonella ; Gervasini, Cristina ; Grazioli, Paolo

AbstractBackgroundChromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under‐ and over‐, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.MethodsAmong the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating‐Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.Results/ConclusionTo date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

01 Jul 2024·European Journal of Human Genetics

A second hotspot for pathogenic exon-skipping variants in CDC45

Article

Author: Brown, Chris M ; Shashi, Vandana ; Schoch, Kelly ; Fellows, Bridget J ; Capra, Valeria ; Uhrig, Sabine ; Bicknell, Louise S ; Accogli, Andrea ; Biskup, Saskia ; Salpietro, Vincenzo ; Einsele-Scholz, Stephanie ; Cao, Joseph ; Ruegg, Mischa S G ; Hawarden, Samuel R A

AbstractBiallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short stature and absent/hypoplastic patellae. Identified variants act through a hypomorphic loss of function mechanism, to reduce CDC45 activity and impact DNA replication initiation. In addition to missense and premature termination variants, several pathogenic synonymous variants have been identified, most of which cause increased exon skipping of exon 4, which encodes an essential part of the RecJ-orthologue’s DHH domain. Here we have identified a second cohort of families segregating CDC45 variants, where patients have craniosynostosis and a reduction in height, alongside common facial dysmorphisms, including thin eyebrows, consistent with MGORS7. Skipping of exon 15 is a consequence of two different variants, including a shared synonymous variant that is enriched in individuals of East Asian ancestry, while other variants in trans are predicted to alter key intramolecular interactions in α/β domain II, or cause retention of an intron within the 3ʹUTR. Our cohort and functional data confirm exon skipping is a relatively common pathogenic mechanism in CDC45, and highlights the need for alternative splicing events, such as exon skipping, to be especially considered for variants initially predicted to be less likely to cause the phenotype, particularly synonymous variants.

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Meier-Gorlin Syndrome

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