Buschke-Ollendorff syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DERMATOOSTEOPOIKILOSIS
OSTEOPOIKILOSIS WITH MELORHEOSTOSIS, INCLUDED
OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED
DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED
BOS
Disseminated dermatofibrosis with osteopoikilosis
Number of Symptoms 85
OrphanetNr: 1306
OMIM Id: 166700
ICD-10: Q78.8
UMLs:
MeSH: C537415
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 [Orphanet]
Inheritance:
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis elastic tissue disorder
 -Rare genetic disease
 -Rare skin disease
Osteopetrosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney 64 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0010289) Alveolar ridge cleft Occasional [Orphanet] 2 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0000706) Unerupted tooth Very frequent [Orphanet] 10 / 7739
6
 (HPO:0000211) Trismus Occasional [Orphanet] 9 / 7739
7
 (HPO:0000678) Dental crowding Very frequent [Orphanet] 65 / 7739
8
 (HPO:0003191) Cleft ala nasi Occasional [Orphanet] 8 / 7739
9
 (HPO:0100335) Non-midline cleft lip Occasional [Orphanet] 12 / 7739
10
 (HPO:0012384) Rhinitis Very frequent [Orphanet] 18 / 7739
11
 (HPO:0011079) Impacted tooth Very frequent [Orphanet] 3 / 7739
12
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
13
 (HPO:0000618) Blindness Very frequent [Orphanet] 124 / 7739
14
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
15
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
16
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
17
 (HPO:0000646) Amblyopia Very frequent [Orphanet] 42 / 7739
18
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
19
 (HPO:0008376) Nasal, dysarthic speech Very frequent [Orphanet] 8 / 7739
20
 (HPO:0002179) Opisthotonus Occasional [Orphanet] 35 / 7739
21
 (HPO:0003739) Myoclonic spasms Occasional [Orphanet] 7 / 7739
22
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
23
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
24
 (HPO:0002829) Arthralgia Occasional [Orphanet] 79 / 7739
25
 (HPO:0005684) Distal arthrogryposis 31 / 7739
26
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] hallmark [HPO] 113 / 7739
27
 (HPO:0002758) Osteoarthritis Occasional [Orphanet] occasional [HPO] 78 / 7739
28
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
29
 (HPO:0000940) Abnormal diaphysis morphology Occasional [Orphanet] 41 / 7739
30
 (HPO:0001387) Joint stiffness 322 / 7739
31
 (HPO:0001371) Flexion contracture Occasional [Orphanet] 220 / 7739
32
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] occasional [HPO] 141 / 7739
33
 (HPO:0010885) Aseptic necrosis Very frequent [Orphanet] 24 / 7739
34
 (HPO:0100252) Diaphyseal dysplasia Occasional [Orphanet] occasional [HPO] 4 / 7739
35
 (HPO:0000943) Dysostosis multiplex Very frequent [Orphanet] 22 / 7739
36
 (HPO:0007447) Diffuse palmoplantar hyperkeratosis Occasional [Orphanet] occasional [HPO] 8 / 7739
37
 (HPO:0011002) Osteopetrosis Very frequent [Orphanet] hallmark [HPO] 19 / 7739
38
 (HPO:0002757) Recurrent fractures Occasional [Orphanet] 47 / 7739
39
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
40
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
41
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
42
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
43
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
44
 (HPO:0010739) Osteopoikilosis 2 / 7739
45
 (HPO:0100255) Metaphyseal dysplasia Very frequent [Orphanet] hallmark [HPO] 26 / 7739
46
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
47
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
48
 (HPO:0000972) Palmoplantar hyperkeratosis Occasional [Orphanet] occasional [HPO] 41 / 7739
49
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
50
 (HPO:0001369) Arthritis Occasional [Orphanet] 44 / 7739
51
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] hallmark [HPO] 78 / 7739
52
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
53
 (HPO:0004322) Short stature Very frequent [Orphanet] hallmark [HPO] 1232 / 7739
54
 (HPO:0010562) Keloids Occasional [Orphanet] 11 / 7739
55
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
56
 (HPO:0007481) Hyperpigmented nevi Occasional [Orphanet] occasional [HPO] 6 / 7739
57
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
58
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
59
 (HPO:0000982) Palmoplantar keratoderma Occasional [Orphanet] 40 / 7739
60
 (HPO:0007513) Generalized hypopigmentation Very frequent [Orphanet] 12 / 7739
61
 (HPO:0003764) Nevus Occasional [Orphanet] occasional [HPO] 17 / 7739
62
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] hallmark [HPO] 46 / 7739
63
 (HPO:0001482) Subcutaneous nodule Occasional [Orphanet] 17 / 7739
64
 (HPO:0001056) Milia Very frequent [Orphanet] 24 / 7739
65
 (HPO:0200034) Papule Very frequent [Orphanet] 12 / 7739
66
 (HPO:0004417) Intermittent claudication Occasional [Orphanet] 10 / 7739
67
 (HPO:0001679) Abnormality of the aorta Very frequent [Orphanet] 5 / 7739
68
 (HPO:0005113) Dilatation of the aortic arch Very frequent [Orphanet] 12 / 7739
69
 (HPO:0001680) Coarctation of aorta Very frequent [Orphanet] 57 / 7739
70
 (HPO:0011611) Interrupted aortic arch Very frequent [Orphanet] 10 / 7739
71
 (HPO:0100271) Hyponasal speech Very frequent [Orphanet] 7 / 7739
72
 (HPO:0001609) Hoarse voice 34 / 7739
73
 (HPO:0001611) Nasal speech Very frequent [Orphanet] 48 / 7739
74
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
75
 (HPO:0100242) Sarcoma Very frequent [Orphanet] 27 / 7739
76
 (HPO:0100721) Mediastinal lymphadenopathy Frequent [Orphanet] 19 / 7739
77
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
78
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
79
 (HPO:0001281) Tetany Occasional [Orphanet] 20 / 7739
80
 (OMIM) Subcutaneous nontender firm nodules 2 / 7739
81
 (OMIM) Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata) 2 / 7739
82
 (OMIM) Elastin-rich connective tissue nevi (elastoma) 2 / 7739
83
 (OMIM) Melorheostosis, typically affect diaphyses (less common) 2 / 7739
84
 (OMIM) Subcutaneous connective tissue nevi 2 / 7739
85
 (OMIM) Osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected ...
Clinical Description OMIM Berlin et al. (1967) showed that either the skin or the bone lesions of osteopoikilosis can be absent in families in which some members have both.

Verbov (1977) described disseminated dermatofibrosis associated with osteopoikilosis in a ...
Molecular genetics OMIM Hellemans et al. (2004) identified 23 known genes within the candidate region for osteopoikilosis that they had identified on chromosome 12 and searched for mutations in 2 candidate genes, WIF1 (605186) and LEMD3 (607844). No abnormalities were found ...