STICKLER SYNDROME, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
STICKLER SYNDROME, VITREOUS TYPE 1
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE
AOM
STL1
Number of Symptoms 26
OrphanetNr:
OMIM Id: 108300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge 381 / 7739
2
(HPO:0000201) Pierre-Robin sequence 20 / 7739
3
(HPO:0000463) Anteverted nares 305 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000272) Malar flattening 277 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0000541) Retinal detachment 87 / 7739
8
(HPO:0000545) Myopia 286 / 7739
9
(HPO:0000501) Glaucoma 180 / 7739
10
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
12
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
13
(HPO:0002808) Kyphosis 289 / 7739
14
(HPO:0000767) Pectus excavatum 244 / 7739
15
(HPO:0001166) Arachnodactyly 62 / 7739
16
(HPO:0002650) Scoliosis 705 / 7739
17
(HPO:0003040) Arthropathy 19 / 7739
18
(HPO:0001519) Disproportionate tall stature 39 / 7739
19
(HPO:0001634) Mitral valve prolapse 69 / 7739
20
(OMIM) Occasional conductive hearing loss 1 / 7739
21
(OMIM) Normal height 8 / 7739
22
(OMIM) Mild spondyloepiphyseal dysplasia 3 / 7739
23
(OMIM) Occasional cataracts 1 / 7739
24
(OMIM) Membranous (type I) vitreous phenotype 1 / 7739
25
(OMIM) Flat, irregular femoral epiphyses 1 / 7739
26
(OMIM) Platyspondyly with anterior wedging 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. ...
Clinical Description OMIM Stickler et al. (1965), from a long experience at the Mayo Clinic with multiple members of a kindred, described a new dominant entity consisting of progressive myopia beginning in the first decade of life and resulting in retinal ...
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 affected members of 2 unrelated families with Stickler syndrome, Ahmad et al. (1990, 1991) and Ahmad et al. (1993) identified different heterozygous nonsense mutations in the COL2A1 gene (120140.0005; 120140.0010).

In a family with Stickler ...