Maffucci syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MAFFUCCI SYNDROME
Number of Symptoms 27
OrphanetNr: 163634
OMIM Id: 614569
ICD-10: Q78.4
UMLs: C0024454
MeSH:
MedDRA:
Snomed: 46041001

Prevalence, inheritance and age of onset:

Prevalence: 250 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Complex - combined vascular malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Genetic bone tumor
 -Rare genetic disease
Genetic skin vascular disease
 -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
Skin vascular disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
2
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
3
 (HPO:0100021) Cerebral palsy Occasional [Orphanet] 36 / 7739
4
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
5
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
6
 (HPO:0100013) Neoplasm of the breast Occasional [Orphanet] 18 / 7739
7
 (HPO:0100631) Neoplasm of the adrenal gland Occasional [Orphanet] 5 / 7739
8
 (HPO:0000853) Goiter Occasional [Orphanet] 39 / 7739
9
 (HPO:0100733) Neoplasm of the parathyroid gland Occasional [Orphanet] 2 / 7739
10
 (HPO:0011750) Neoplasm of the anterior pituitary Occasional [Orphanet] 6 / 7739
11
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
12
 (HPO:0100777) Exostoses Frequent [Orphanet] 32 / 7739
13
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
14
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
15
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
16
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
17
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
18
 (HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
20
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
21
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
22
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
23
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
24
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
25
 (HPO:0004936) Venous thrombosis Very frequent [Orphanet] 41 / 7739
26
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
27
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 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. Clinical problems caused by enchondromas include skeletal ...
Clinical Description OMIM Kaplan et al. (1993) reported 2 men, aged 42 and 44 years, with Maffucci syndrome. The latter had had multiple enchondromas and subcutaneous hemangiomas since birth on both the arms and the legs. A painful mass that had ...
Molecular genetics OMIM In enchondromas and chondrosarcomas from 31 enchondromatosis patients (Ollier disease or Maffucci syndrome, lacking platyspondyly) from 3 different European countries, Rozeman et al. (2004) failed to find evidence of the R150C mutation in the PTHR1 gene (168468) described ...
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 ...