Table 3.

Stickler Syndrome: Selected Allelic Disorders

GenePhenotype 1
COL2A1 2
(See Type II Collagen Disorders Overview,)
Most severe (often lethal perinatally)Achondrogenesis, COL2A1-related (formerly type 2, type Langer-Saldino)
Hypochondrogenesis, COL2A1-related
Platyspondylic dysplasia, type Torrance, COL2A1-related
Severe / moderately severe (neonatal presentation)Kniest dysplasia, COL2A1-related
Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related
SEMD, COL2A1-related (incl SEMD type Strudwick)
Spondylometaphyseal dysplasia Sutcliffe (or "corner fractures" type), COL2A1-related (See SMD, Corner Fracture Type.)
Intermediate (neonatal/childhood/adolescent presentation)Spondyloperipheral dysplasia, COL2A1-related
Spondyloepiphyseal dysplasia w/metatarsal shortening, COL2A1-related
Mild (adolescent/adult presentation)Mild spondyloepiphyseal dysplasia w/premature-onset arthrosis, COL2A1-related
COL9A1 Multiple epiphyseal dysplasia, COL9A1-related (See MED, Autosomal Dominant.)
COL9A2 Multiple epiphyseal dysplasia, COL9A2-related (See MED, Autosomal Dominant.)
COL9A3 Multiple epiphyseal dysplasia, COL9A3-related (See MED, Autosomal Dominant.)
COL11A1 Autosomal dominant nonsyndromic hearing loss, COL11A1-related (OMIM 618533)
Fibrochondrogenesis, COL11A1-related (OMIM 228520)
Marshall syndrome, COL11A1-related (OMIM 154780)
COL11A2 Otospondylomegaepiphyseal dysplasia (OSMED), recessive type, COL11A1-related (OMIM 215150)
Otospondylomegaepiphyseal dysplasia (OSMED), dominant type, COL11A1-related (OMIM 184840)
Fibrochondrogenesis, COL11A1-related (OMIM 614524)
Autosomal dominant nonsyndromic hearing loss, COL11A2-related (OMIM 601868)

MED = multiple epiphyseal dysplasia; SEMD = spondyloepimetaphyseal dysplasia; SMD = spondylometaphyseal dysplasia


Phenotype names are based on the 2023 revision of the Nosology of Genetic Skeletal Disorders [Unger et al 2023].


See OMIM 120140 for additional COL2A1 allelic disorders.

From: Stickler Syndrome

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