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Sclerosteosis
2 OMIM references -
2 associated genes
14 connected diseases
15 signs/symptoms
Disease Type of connection
Hyperostosis corticalis generalisata
Cenani-Lenz syndrome
Craniodiaphyseal dysplasia
Postsynaptic congenital myasthenic syndromes
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Familial exudative vitreoretinopathy
Idiopathic juvenile osteoporosis
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Retinopathy of prematurity
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Usher syndrome type 2
Synonym(s):
- Cortical hyperostosis - syndactyly
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 -
1 MeSH reference: C537525
Gene symbol UniProt reference OMIM reference
LRP4 O75096604270
SOST Q9BQB4605740
Very frequent
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dysplastic / thick / grooved fingernails
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Irregular length / shape of fingers
- Osteosclerosis / osteopetrosis / bone condensation
- Syndactyly of fingers / interdigital palm
- Tall stature / gigantism / growth acceleration

Frequent
- Facial palsy
- Ptosis
- Sensorineural deafness / hearing loss

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla