Stickler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary progressive arthroophthalmopathy
Number of Symptoms 78
OrphanetNr: 828
OMIM Id: 108300
604841
609508
614134
614284
ICD-10: Q87.5
UMLs: C0265253
MeSH: C537492
MedDRA: 10063402
Snomed: 78675000

Prevalence, inheritance and age of onset:

Prevalence: 0.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Musculoskeletal disease with cataract
 -Rare eye disease
 -Rare genetic disease
Pierre Robin syndrome associated with collagen disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic myopia
 -Rare eye disease
 -Rare genetic disease
Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
2
(HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
3
(HPO:0000695) Natal tooth Occasional [Orphanet] 42 / 7739
4
(HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
5
(HPO:0000201) Pierre-Robin sequence 20 / 7739
6
(HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
7
(HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
8
(HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
9
(HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
10
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
11
(HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
12
(HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
13
(HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
14
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
15
(HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
16
(HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
17
(HPO:0000175) Cleft palate 349 / 7739
18
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
19
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
20
(HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
21
(HPO:0010290) Short hard palate Occasional [Orphanet] 5 / 7739
22
(HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
23
(HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
24
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
25
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
26
(HPO:0000618) Blindness 124 / 7739
27
(HPO:0004327) Abnormality of the vitreous humor Very frequent [Orphanet] 14 / 7739
28
(HPO:0000518) Cataract Very frequent [Orphanet] occasional [HPO:skoehler] 454 / 7739
29
(HPO:0000483) Astigmatism Frequent [Orphanet] 67 / 7739
30
(HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
31
(HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
32
(HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
33
(HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
34
(HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
35
(HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
36
(HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
37
(HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
38
(HPO:0000405) Conductive hearing impairment occasional [HPO:skoehler] 164 / 7739
39
(HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
40
(HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
41
(HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
42
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
43
(HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
44
(HPO:0003179) Protrusio acetabuli Occasional [Orphanet] 37 / 7739
45
(HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
46
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
47
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
48
(HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
49
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
50
(HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
51
(HPO:0001166) Arachnodactyly 62 / 7739
52
(HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
53
(HPO:0000767) Pectus excavatum 244 / 7739
54
(HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
55
(HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
56
(HPO:0006361) Irregular femoral epiphysis 3 / 7739
57
(HPO:0000940) Abnormal diaphysis morphology Occasional [Orphanet] 41 / 7739
58
(HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
59
(HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
60
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
61
(HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
62
(HPO:0004568) Beaking of vertebral bodies 19 / 7739
63
(HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
64
(HPO:0003040) Arthropathy 19 / 7739
65
(HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
66
(HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
67
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
68
(HPO:0001519) Disproportionate tall stature Frequent [Orphanet] 39 / 7739
69
(HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
70
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
71
(HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
72
(HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
73
(HPO:0001634) Mitral valve prolapse 69 / 7739
74
(HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
75
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
76
(HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
77
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
78
(HPO:0011800) Midface retrusion 221 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews Clinical diagnostic criteria have not been established for Stickler syndrome. The disorder should be considered in individuals with clinical findings in two or more of the following categories:...
Clinical Description GeneReviews Stickler syndrome is a multisystem connective tissue disorder that can affect the eye, craniofacies, inner ear, skeleton, and joints. ...
Genotype-Phenotype Correlations GeneReviews Although inter- and intrafamilial variation was observed among 25 individuals from six families with the same molecular diagnosis [Liberfarb et al 2003], some generalities can be made regarding genotype-phenotype correlation....
Differential Diagnosis GeneReviews A number of disorders have features that overlap with those of Stickler syndrome. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Stickler syndrome, the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....