Osteogenesis imperfecta type 2

General Information (adopted from Orphanet):

Synonyms, Signs: OI type 2
Lethal osteogenesis imperfecta
Number of Symptoms 22
OrphanetNr: 216804
OMIM Id: 166210
259440
610682
610915
ICD-10: Q78.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Osteogenesis imperfecta
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005623) Absent ossification of calvaria 2 / 7739
2
 (HPO:0000239) Large fontanelles 135 / 7739
3
 (HPO:0000444) Convex nasal ridge 87 / 7739
4
 (HPO:0002645) Wormian bones 65 / 7739
5
 (HPO:0000592) Blue sclerae 85 / 7739
6
 (HPO:0005855) Multiple prenatal fractures 10 / 7739
7
 (HPO:0002982) Tibial bowing 36 / 7739
8
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
9
 (HPO:0000923) Beaded ribs 5 / 7739
10
 (HPO:0000926) Platyspondyly 150 / 7739
11
 (HPO:0006367) Crumpled long bones 2 / 7739
12
 (HPO:0002757) Recurrent fractures 47 / 7739
13
 (HPO:0005622) Broad long bones 8 / 7739
14
 (HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
15
 (HPO:0001622) Premature birth 100 / 7739
16
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
17
 (HPO:0001518) Small for gestational age 107 / 7739
18
 (HPO:0000963) Thin skin 96 / 7739
19
 (HPO:0010444) Pulmonary insufficiency 11 / 7739
20
 (HPO:0001635) Congestive heart failure 232 / 7739
21
 (HPO:0002093) Respiratory insufficiency 410 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: