OSTEOGENESIS IMPERFECTA, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE II
VROLIK TYPE OF OSTEOGENESIS IMPERFECTA
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM
OSTEOGENESIS IMPERFECTA CONGENITA
OI2
OIC
Number of Symptoms 21
OrphanetNr:
OMIM Id: 166210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000444) Convex nasal ridge 87 / 7739
2
(HPO:0002645) Wormian bones 65 / 7739
3
(HPO:0005474) Decreased calvarial ossification 8 / 7739
4
(HPO:0000239) Large fontanelles 135 / 7739
5
(HPO:0000592) Blue sclerae 85 / 7739
6
(HPO:0000923) Beaded ribs 5 / 7739
7
(HPO:0002982) Tibial bowing 36 / 7739
8
(HPO:0000926) Platyspondyly 150 / 7739
9
(HPO:0005855) Multiple prenatal fractures 10 / 7739
10
(HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
11
(HPO:0001622) Premature birth 100 / 7739
12
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
13
(HPO:0001518) Small for gestational age 107 / 7739
14
(HPO:0000963) Thin skin 96 / 7739
15
(HPO:0010444) Pulmonary insufficiency 11 / 7739
16
(HPO:0001635) Congestive heart failure 232 / 7739
17
(OMIM) Telescoped femur 1 / 7739
18
(OMIM) Broad crumpled long bones 1 / 7739
19
(OMIM) Absent calvarial mineralization 1 / 7739
20
(OMIM) Hips usually flexed and abducted (frog-leg position) 1 / 7739
21
(OMIM) Flattened acetabulae and iliac wings 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et al., 1979; Barnes et al., ...
Clinical Description OMIM Morphologically there appear to be 2 forms of OI congenita, a thin-boned and a broad-boned type. The latter is well illustrated by the male and female sibs reported by Remigio and Grinvalsky (1970). The diagnosis is in question, ...
Genotype-Phenotype Correlations OMIM Bodian et al. (2009) screened DNA samples from 62 unrelated individuals with the perinatal lethal form of OI and identified COL1A1 or COL1A2 mutations in 59 samples and CRTAP or LEPRE1 (610339) mutations in 3 samples. The authors ...
Molecular genetics OMIM In studies of material from the patient of Penttinen et al. (1975) and Heller et al. (1975), Williams and Prockop (1983) found deletion of about 500 bp in the gene for pro-alpha-1(I). See also Chu et al. (1983). ...