Synonym(s): - OPPG - Ocular form of osteogenesis imperfecta
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536063
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
LRP5	O75197	603506

- Abnormal vertebral size / shape
- 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

- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Short stature / dwarfism / nanism

- 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