Multiple non-ossifying fibromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: Jaffe-Campanacci syndrome
Number of Symptoms 22
OrphanetNr: 2029
OMIM Id:
ICD-10: M89.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
5
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
6
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
7
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
8
 (HPO:0000512) Abnormal electroretinogram Occasional [Orphanet] 61 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
 (HPO:0012638) Abnormality of nervous system physiology Very frequent [Orphanet] 12 / 7739
11
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
12
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
13
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
14
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
16
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
17
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
18
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
19
 (HPO:0000957) Cafe-au-lait spot Very frequent [Orphanet] 84 / 7739
20
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
21
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
22
 (HPO:0030426) Ossifying fibroma Very frequent [Orphanet] 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: