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MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in  FBN1 . We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature, arachnodactyly, spinal deformations, dural ectasia, pectus and/or feet deformations, osteoarthritis, and/or high arched palate. Gene panel sequencing was negative for  FBN1  variants. However, it revealed likely pathogenic missense variants in three individuals [c.3936G &gt; T p.(Lys1312Asn), c.193G &gt; A p.(Asp65Asn)] and a missense variant of unknown significance in the fourth patient [c.4013G &gt; A p.(Ser1338Asn)] in propeptide coding regions of  COL2A1 . Pathogenic  COL2A1  variants are associated with type II collagenopathies comprising a remarkable clinical variablility. Main features include skeletal dysplasia, ocular anomalies, and auditory defects. A MASS-like phenotype has not been associated with  COL2A1  variants before. Thus, the identification of likely pathogenic  COL2A1  variants in our patients expands the phenotypic spectrum of type II collagenopathies and suggests that a MASS-like phenotype can be assigned to various hereditary disorders of connective tissue. We compare the phenotypes of our patients with related disorders of connective tissue and discuss possible pathomechanisms and genotype–phenotype correlations for the identified  COL2A1  variants. Our data recommend  COL2A1  sequencing in  FBN1 -negative patients suggestive for MASS/Marfan-like phenotype (without aortopathy).

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype