OSTEOGENESIS IMPERFECTA, TYPE XII

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE XII
OI12
Number of Symptoms 30
OrphanetNr:
OMIM Id: 613849
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000272) Malar flattening 277 / 7739
2
(HPO:0000160) Narrow mouth 188 / 7739
3
(HPO:0011800) Midface retrusion 221 / 7739
4
(HPO:0000336) Prominent supraorbital ridges 45 / 7739
5
(HPO:0002645) Wormian bones 65 / 7739
6
(HPO:0000684) Delayed eruption of teeth 117 / 7739
7
(HPO:0005280) Depressed nasal bridge 381 / 7739
8
(HPO:0000324) Facial asymmetry 57 / 7739
9
(HPO:0011220) Prominent forehead 137 / 7739
10
(HPO:0000347) Micrognathia 426 / 7739
11
(HPO:0000218) High palate 356 / 7739
12
(HPO:0001270) Motor delay 322 / 7739
13
(HPO:0002650) Scoliosis 705 / 7739
14
(HPO:0000768) Pectus carinatum 136 / 7739
15
(HPO:0000939) Osteoporosis 129 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(OMIM) Mild bone deformities 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Hyperextensibility of the interphalangeal joints 1 / 7739
20
(OMIM) Facial asymmetry, mild 5 / 7739
21
(HPO:0040160) Generalized osteoporosis 7 / 7739
22
(OMIM) Bowing of lower limbs 1 / 7739
23
(OMIM) Bowing of upper limbs 1 / 7739
24
(OMIM) Normal sclerae 4 / 7739
25
(OMIM) Normal hearing 9 / 7739
26
(OMIM) Mild scoliosis 7 / 7739
27
(OMIM) No dentinogenesis imperfecta 4 / 7739
28
(OMIM) Repeated bone fractures 1 / 7739
29
(HPO:0030680) Abnormality of cardiovascular system morphology rare [HPO:skoehler] 355 / 7739
30
(OMIM) High, prominent forehead 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild ...
Clinical Description OMIM Lapunzina et al. (2010) reported an 8-year-old Egyptian boy with osteogenesis imperfecta and normal sclerae, who was born to consanguineous parents related as second cousins. Clinical features included recurrent fractures, mild bone deformities, delayed tooth eruption, and normal ...
Molecular genetics OMIM In an 8-year-old Egyptian boy with osteogenesis imperfecta and normal sclerae, Lapunzina et al. (2010) identified a homozygous single basepair deletion in the SP7/OSX gene (606633.0001). The parents were heterozygous for the mutation.