Sclerosteosis

General Information (adopted from Orphanet):

Synonyms, Signs: Cortical hyperostosis - syndactyly
Number of Symptoms 45
OrphanetNr: 3152
OMIM Id: 269500
614305
ICD-10: M85.2
UMLs: C0265301
MeSH: C537525
MedDRA:
Snomed: 17568006

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 increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
2
 (HPO:0010628) Facial palsy Frequent [Orphanet] 146 / 7739
3
 (HPO:0007285) Facial palsy secondary to cranial hyperostosis 2 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
6
 (HPO:0000303) Mandibular prognathia 179 / 7739
7
 (HPO:0011800) Midface retrusion 221 / 7739
8
 (HPO:0000272) Malar flattening 277 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0000431) Wide nasal bridge 290 / 7739
11
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
12
 (HPO:0002007) Frontal bossing 366 / 7739
13
 (HPO:0000520) Proptosis 192 / 7739
14
 (HPO:0000689) Dental malocclusion 114 / 7739
15
 (HPO:0000572) Visual loss 272 / 7739
16
 (HPO:0000639) Nystagmus 555 / 7739
17
 (HPO:0001133) Constriction of peripheral visual field 33 / 7739
18
 (HPO:0000648) Optic atrophy 238 / 7739
19
 (HPO:0000565) Esotropia 58 / 7739
20
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
21
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
22
 (HPO:0000365) Hearing impairment 539 / 7739
23
 (HPO:0002315) Headache 175 / 7739
24
 (HPO:0100543) Cognitive impairment 230 / 7739
25
 (HPO:0002516) Increased intracranial pressure 47 / 7739
26
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
27
 (HPO:0004576) Sclerotic vertebral endplates 3 / 7739
28
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
29
 (HPO:0004097) Deviation of finger 13 / 7739
30
 (HPO:0001233) 2-3 finger syndactyly 7 / 7739
31
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
32
 (HPO:0000916) Broad clavicles 6 / 7739
33
 (HPO:0000885) Broad ribs 21 / 7739
34
 (HPO:0001474) Sclerotic scapulae 3 / 7739
35
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
36
 (HPO:0006415) Cortically dense long tubular bones 2 / 7739
37
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
38
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
39
 (HPO:0001548) Overgrowth 27 / 7739
40
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
41
 (HPO:0002164) Nail dysplasia 82 / 7739
42
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
43
 (HPO:0001699) Sudden death 34 / 7739
44
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
45
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: