ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Osteoporosis - pseudoglioma

Autosomal dominant osteosclerosis, Worth type

LRP5

Citations in the biomedical literature:

Osteoporosis - pseudoglioma		Autosomal dominant osteosclerosis, Worth type
	Synonym(s): - OPPG - Ocular form of osteogenesis imperfecta		Synonym(s): - Endosteal hyperostosis, Worth type - Worth syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536063		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape

Osteoporosis - pseudoglioma		Autosomal dominant osteosclerosis, Worth type
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Cataract / lens opacification - Delayed bone age - Hyperextensible joints / articular hyperlaxity - Hypotonia - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Visual loss / blindness / amblyopia Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Pupillary anomalies / mydriasis / myosis / tonic pupil - Short stature / dwarfism / nanism Occasional - Depressed nasal bridge - Generalized obesity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Kyphosis - Low hair line (back) - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla		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 - Enlargment of jaw / large jaw Occasional - Facial palsy - Nystagmus - Prognathism / prognathia - Sensorineural deafness / hearing loss