Congenital osteogenesis imperfecta - microcephaly - cataracts
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 36 |
| OrphanetNr: | 2772 |
| OMIM Id: |
259410
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| ICD-10: |
Q78.0 |
| UMLs: |
C1850184 |
| MeSH: |
C537558 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with decreased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0005474) | Decreased calvarial ossification | 8 / 7739 | ||||
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(HPO:0002691) | Platybasia | 10 / 7739 | ||||
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(HPO:0002645) | Wormian bones | 65 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0004331) | Decreased skull ossification | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000592) | Blue sclerae | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0003023) | Bowing of limbs due to multiple fractures | 6 / 7739 | ||||
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(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0000768) | Pectus carinatum | 136 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Occasional [Orphanet] | 231 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0005855) | Multiple prenatal fractures | 10 / 7739 | ||||
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(HPO:0001195) | Single umbilical artery | Frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0008873) | Disproportionate short-limb short stature | 39 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0000963) | Thin skin | 96 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0004383) | Hypoplastic left heart | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(OMIM) | Poorly developed sulci and gyri | 1 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0003826) | Stillbirth | 40 / 7739 | ||||
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(OMIM) | Small brain | 2 / 7739 | ||||
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(OMIM) | Normal blood biochemistry | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|