Isolated osteopoikilosis

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
Number of Symptoms 13
OrphanetNr: 166119
OMIM Id: 166700
ICD-10: Q78.8
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: Osteopetrosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0100542) Abnormal localization of kidney Very frequent [Orphanet] 64 / 7739
2
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
(HPO:0001387) Joint stiffness 322 / 7739
4
(HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
5
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
6
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
(HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
8
(OMIM) Subcutaneous connective tissue nevi 2 / 7739
9
(OMIM) Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata) 2 / 7739
10
(OMIM) Melorheostosis, typically affect diaphyses (less common) 2 / 7739
11
(OMIM) Osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula 2 / 7739
12
(OMIM) Subcutaneous nontender firm nodules 2 / 7739
13
(OMIM) Elastin-rich connective tissue nevi (elastoma) 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 ...