Enchondromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: DYSCHONDROPLASIA
OSTEOCHONDROMATOSIS
ollier disease
Number of Symptoms 27
OrphanetNr: 296
OMIM Id: 166000
ICD-10: Q78.4
UMLs: C0014084
MeSH: D004687
MedDRA: 10014642
Snomed: 268274005

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic bone tumor
 -Rare genetic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Malformation syndrome with hamartosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare bone tumor
 -Rare bone disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
2
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
3
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
4
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
5
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
7
 (HPO:0005701) Multiple enchondromatosis 11 / 7739
8
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
9
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
10
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
11
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
12
 (HPO:0006765) Chondrosarcoma 5 / 7739
13
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
14
 (HPO:0001048) Cavernous hemangioma Very frequent [Orphanet] 28 / 7739
15
 (HPO:0001028) Hemangioma 23 / 7739
16
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
17
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
18
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
19
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
20
 (HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
21
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
22
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
23
 (HPO:0100764) Lymphangioma Occasional [Orphanet] 11 / 7739
24
 (OMIM) Asymmetric tubular bone abnormality 1 / 7739
25
 (OMIM) Ovarian juvenile granulosa cell tumor with precocious pseudopuberty 1 / 7739
26
 (OMIM) Osteochondromatosis 2 / 7739
27
 (MedDRA:10069069) Enchondroma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include ...
Clinical Description OMIM Vaz and Turner (1986) described a case of Ollier disease associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. Tamimi and Bolen (1984) had described the same association.

Halal and Azouz (1991) reported the case ...
Molecular genetics OMIM In a case of human enchondromatosis, Hopyan et al. (2002) had identified a mutant type I receptor for parathyroid hormone and parathyroid hormone-related protein (PTHR1; 168468) that signaled abnormally in vitro and caused enchondroma-like lesions in transgenic mice. ...
Population genetics OMIM Sun et al. (1985) reported that 9 patients with Maffucci syndrome seen at the Mayo Clinic developed chondrosarcoma. From a review of the English literature since 1973, they concluded that the incidence of chondrosarcoma in this disorder is ...