Stickler syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: STL3
stickler syndrome, nonocular type
Number of Symptoms 27
OrphanetNr: 166100
OMIM Id: 184840
ICD-10: Q87.5
UMLs: C1861481
MeSH: C537494
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: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Pierre Robin syndrome associated with collagen disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Type 11 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
8
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
9
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
10
 (HPO:0000478) Abnormality of the eye 126 / 7739
11
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
12
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
14
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
15
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
16
 (HPO:0003088) Premature osteoarthritis 10 / 7739
17
 (HPO:0010580) Enlarged epiphyses 14 / 7739
18
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
19
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
20
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
21
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
22
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
23
 (HPO:0002829) Arthralgia 79 / 7739
24
 (HPO:0000926) Platyspondyly 150 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) No ocular symptoms 2 / 7739
27
 (OMIM) Mild platyspondyly 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a large Dutch kindred, Brunner et al. (1994) identified 16 members with characteristic facial features of Stickler syndrome in combination with hearing impairment. Cleft palate or mild arthropathy occurred in several patients, whereas ocular signs of the ...
Molecular genetics OMIM In affected members of the large Dutch kindred segregating Stickler syndrome reported by Brunner et al. (1994), Vikkula et al. (1995) identified a heterozygous nonsense mutation in the COL11A2 gene (120290.0001).

In affected members of a ...