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Hyperostosis corticalis generalisata
2 OMIM references -
2 associated genes
16 connected diseases
10 signs/symptoms
Disease Type of connection
Idiopathic juvenile osteoporosis
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Craniodiaphyseal dysplasia
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Sclerosteosis
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Coats disease
Heritable pulmonary arterial hypertension
Norrie disease
Persistent hyperplastic primary vitreous
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Synonym(s):
- Van Buchem disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
LRP5 O75197603506
SOST Q9BQB4605740
Very frequent
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Osteosclerosis / osteopetrosis / bone condensation
- Prognathism / prognathia

Frequent
- Facial palsy
- Sensorineural deafness / hearing loss