Spondylo-ocular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 45
OrphanetNr: 85194
OMIM Id: 605822
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
2
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0000465) Webbed neck 81 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
7
 (HPO:0002162) Low posterior hairline 88 / 7739
8
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
9
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
10
 (HPO:0000646) Amblyopia 42 / 7739
11
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
12
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
13
 (HPO:0000517) Abnormality of the lens Frequent [Orphanet] 12 / 7739
14
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
15
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
16
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
17
 (HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
18
 (HPO:0000369) Low-set ears 372 / 7739
19
 (HPO:0009738) Abnormality of the antihelix Occasional [Orphanet] 37 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
22
 (HPO:0011262) Crimped helix Occasional [Orphanet] 12 / 7739
23
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
24
 (HPO:0000938) Osteopenia 138 / 7739
25
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
26
 (HPO:0000914) Shield chest 14 / 7739
27
 (HPO:0010511) Long toe 9 / 7739
28
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
29
 (HPO:0005108) Abnormality of the intervertebral disk Very frequent [Orphanet] 12 / 7739
30
 (HPO:0100807) Long fingers 23 / 7739
31
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
32
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
33
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
34
 (HPO:0002953) Vertebral compression fractures 14 / 7739
35
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
36
 (HPO:0004322) Short stature Occasional [Orphanet] rare [HPO:skoehler] 1232 / 7739
37
 (HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
38
 (HPO:0000974) Hyperextensible skin Occasional [Orphanet] 59 / 7739
39
 (HPO:0001631) Atria septal defect 274 / 7739
40
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
41
 (HPO:0001634) Mitral valve prolapse 69 / 7739
42
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
43
 (HPO:0001324) Muscle weakness 859 / 7739
44
 (HPO:0012741) Unilateral cryptorchidism rare [HPO:skoehler] 2 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schmidt et al. (2001) described a consanguineous family from northern Iraq in which 6 of 7 sibs were affected by a spondyloocular syndrome. Clinical features included cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, ...
Molecular genetics OMIM Rudolph et al. (2003) excluded several candidate genes, including 3 collagen genes and the PAX6 gene (607108), as the cause of the disorder in the family reported by Schmidt et al. (2001). They also excluded linkage to the ...