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Craniodiaphyseal dysplasia
2 OMIM references -
1 associated gene
10 connected diseases
15 signs/symptoms
Disease Type of connection
Hyperostosis corticalis generalisata
Sclerosteosis
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
Synonym(s):
(no synonyms)
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: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
SOST Q9BQB4605740
Very frequent
- Broad nose / nasal bridge
- Coarse face
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Frontal bossing / prominent forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Rib structure anomalies
- Short stature / dwarfism / nanism

Frequent
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis

Occasional
- Autosomal dominant inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla