IllnessStickler syndrome, differential diagnosis I

NGS +

Stickler syndrome is a hereditary vitreoretinopathy in which the ocular symptomatology is associated with a more or less severe Pierre-Robin sequence, bone abnormalities, and (in 10% of cases) sensorineural hearing loss. Ocular symptoms include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment and chronic uveitis. Hyperextensibility of the joints in youth is followed early by arthritic changes. Mild platyspondyly, scoliosis and enlarged, often abnormal epiphyses are observed. Stickler syndrome is inherited in an autosomal dominant or rarely autosomal recessive manner and is genetically heterogeneous. Mutations are identified in the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 genes - the panel includes all of these genes. DNA tests are used for differential diagnosis and thus for genetic counseling of the index person and relatives. The diagnostic yield of the panel amounts to 90% (80-90% of the cases harbor COL2A1 mutations, 10-20% COL11A1 mutations). Additional genes are rarely associated with the disease. A negative molecular genetic finding does not definitely exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1302/

https://doi.org/10.3390/jpm10030105

• Alias: Arthroophthalmopathy
• Alias: Hereditary progressive arthroophthalmopathy
• Allelic: Czech dysplasia (COL2A1)
• Allelic: Deafness, AD 13 (COL11A2)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Deafness, AR 53 (COL11A2)
• Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Allelic: Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
• Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Allelic: Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Fibrochondrogenesis 2 (COL11A2)
• Allelic: Kniest dysplasia (COL2A1)
• Allelic: Leber congenital amaurosis 16 (KCNJ13)
• Allelic: Legg-Calve-Perthes disease (COL2A1)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Marshall syndrome (COL11A1)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
• Allelic: Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
• Allelic: Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Allelic: Spondyloepimetaphyseal dysplasia Strudwick type (COL2A1)
• Allelic: Spondyloepiphyseal dysplasia congenita (COL2A1)
• Allelic: Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Allelic: Spondyloperipheral dysplasia (COL2A1)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Donnai-Barrow syndrome (LRP2)
• Joint laxity, short stature + myopia (GZF1)
• Microphthalmia, syndromic 6 (BMP4)
• Persistent hyperplastic primary vitreous, AR (ATOH7)
• Snowflake vitreoretinal degeneration (KCNJ13)
• Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Stickler syndrome [MONDO:0019354] (LOXL3)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type III [Otospondylomegaepiphyseal dysplasia, AD] (COL11A2)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)
• Stickler syndrome, type VI (COL9A3)
• Wagner vitreoretinopathy/syndrome 1 (VCAN)