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2 OMIM references -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
14 signs/symptoms
Craniodiaphyseal dysplasia
Autosomal dominant osteosclerosis, Worth type

SOST LRP5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOST
(0.68)
LRP5



Citations in the biomedical literature:


Craniodiaphyseal dysplasia
SOST
Autosomal dominant osteosclerosis, Worth type
LRP5



Craniodiaphyseal dysplasia
Autosomal dominant osteosclerosis, Worth type

Synonym(s):
(no synonyms)

Synonym(s):
- Endosteal hyperostosis, Worth type
- Worth syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw


Craniodiaphyseal dysplasia
Autosomal dominant osteosclerosis, Worth type

Very frequent
- Broad nose / nasal bridge
- Coarse face
- Depressed nasal bridge
- 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
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Very frequent
- Anomalies of the ribs
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Osteosclerosis / osteopetrosis / bone condensation
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape

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