Hyperostosis corticalis generalisata

General Information (adopted from Orphanet):

Synonyms, Signs: Van Buchem disease
Number of Symptoms 16
OrphanetNr: 3416
OMIM Id: 239100
607636
ICD-10: M85.2
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 increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
2
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
3
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
4
 (HPO:0010628) Facial palsy Frequent [Orphanet] 146 / 7739
5
 (HPO:0007958) Optic atrophy from cranial nerve compression 2 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
7
 (HPO:0000365) Hearing impairment 539 / 7739
8
 (HPO:0006824) Cranial nerve paralysis 81 / 7739
9
 (HPO:0002315) Headache 175 / 7739
10
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
11
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
12
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
13
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
14
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
15
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: