Stickler syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: STICKLER SYNDROME, BEADED VITREOUS TYPE
STICKLER SYNDROME, VITREOUS TYPE 2
STL2
Number of Symptoms 29
OrphanetNr: 90654
OMIM Id: 604841
ICD-10: Q15.8
Q87.5
UMLs: C1858084
MeSH: C537493
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Stickler syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Type 11 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares 305 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0000193) Bifid uvula 66 / 7739
8
 (HPO:0005280) Depressed nasal bridge 381 / 7739
9
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
10
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
11
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
12
 (HPO:0004327) Abnormality of the vitreous humor Very frequent [Orphanet] 14 / 7739
13
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
14
 (HPO:0000501) Glaucoma 180 / 7739
15
 (HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
16
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
18
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
19
 (HPO:0001166) Arachnodactyly 62 / 7739
20
 (HPO:0100807) Long fingers 23 / 7739
21
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
22
 (HPO:0001382) Joint hypermobility 231 / 7739
23
 (HPO:0003040) Arthropathy 19 / 7739
24
 (HPO:0011800) Midface retrusion 221 / 7739
25
 (OMIM) Mild spondyloepiphyseal dysplasia 3 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Type 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity) 1 / 7739
28
 (OMIM) Normal height 8 / 7739
29
 (OMIM) Slender extremities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Ang et al. (2007) emphasized the importance of vitreous examination and vitreoretinal phenotyping in the diagnosis of Stickler syndrome. The authors reported 2 unrelated patients who were each found to have 2 dominant gene defects. A female had ...
Clinical Description OMIM Richards et al. (1996) studied a 4-generation family with 9 normal individuals and 7 affected with Stickler syndrome. All affected individuals had the characteristic ocular, auditory, and orofacial features of Stickler syndrome. They noted that abnormal vitreous architecture ...
Genotype-Phenotype Correlations OMIM Annunen et al. (1999) identified 15 novel mutations in the COL11A1 gene and 8 in the COL2A1 gene in patients with Marshall syndrome, Stickler syndrome, or Stickler-like syndrome. Most of the mutations in the COL11A1 gene altered the ...
Molecular genetics OMIM In a family with Stickler syndrome showing linkage to COL11A1, Richards et al. (1996) performed mutation analysis of COL11A1 on RT-PCR products using RNA extracted from cultured dermal fibroblasts. In total, 14 overlapping cDNA products, which covered the ...