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Autosomal dominant osteosclerosis, Worth type
1 OMIM reference -
1 associated gene
15 connected diseases
14 signs/symptoms
Disease Type of connection
Idiopathic juvenile osteoporosis
Hyperostosis corticalis generalisata
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Autosomal dominant osteopetrosis type 1
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Craniodiaphyseal dysplasia
Sclerosteosis
Coats disease
Heritable pulmonary arterial hypertension
Norrie disease
Persistent hyperplastic primary vitreous
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Synonym(s):
- Endosteal hyperostosis, Worth type
- Worth syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LRP5 O75197603506
Very frequent
- Anomalies of the ribs
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Osteosclerosis / osteopetrosis / bone condensation
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape
- Enlargment of jaw / large jaw

Occasional
- Facial palsy
- Nystagmus
- Prognathism / prognathia
- Sensorineural deafness / hearing loss