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Osteosclerosis - developmental delay - craniosynostosis
1 associated gene
15 connected diseases
17 signs/symptoms
Disease Type of connection
Idiopathic juvenile osteoporosis
Hyperostosis corticalis generalisata
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Osteoporosis - pseudoglioma
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):
(no synonyms)
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
LRP5 O75197603506
Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad forehead
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlargment of jaw / large jaw
- High forehead
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Craniostenosis / craniosynostosis / sutural synostosis

Occasional
- Cranial hypertension
- Facial pain / cephalalgia / migraine
- Facial palsy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia