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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
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Disease Information for Maffucci syndrome
- Clinical Manifestations
- Signs & Symptoms
- Multiple blue/red cutaneous nodules
- Port wine Stain Birthmark
- Deformed hand/digits
- Foot deformity
- Joint deformities
- Leg length difference
- Lumpy/deformed hands
- Short stature
- Short stature Child
- Clinical Presentation & Variations
- Presentation/Cutaneous Hemangiomatosis Congenital Multiple
- Disease Progression
- Course/Chronic only
- Course/Progressive
- Course/Progressive/slowly chronic illness
- Onset/Childhood
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Adenocarcinoma, ovary
- Adenocarcinoma, pancreas
- Angioma/cutaneous
- Angiosarcoma
- Bone cancer/malignancy
- Bone deformity/acquired
- Bony cystic angiomatosis
- Bony deformities/developmental
- Cancer/malignancy
- Cavernous hemangioma
- Chondrodystrophy
- Chondroma
- Chondrosarcoma
- Cutaneous angioma/hemangioma
- Disseminated angiomatosis/hemangiomatosis
- Dwarfism/acquired
- Enchondroma
- Femoral neck stress fracture
- Fracture long bones
- Fractures, general
- Hemangioma
- Hemangiomatosis ('vanishing bone disease')
- Kyphoscoliosis
- Lateral scoliosis/Rotosclerosis
- Limb deformities/anomalies
- Lymphangioma, congenital
- Maffucci syndrome
- Multiple enchondroma
- Pathologic fractures
- Port wine nevus/Nevus flammeus/facial
- Recurrent bone fractures
- Scoliosis
- Skeletal dysplasia
- Skeletal/bone malformations
- Soft Tissue Enchondroma
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Capillary/microcirculation disorder (ex)
- CLASS/Cardiovascular (category)
- CLASS/Cartilage involvement/disorder (ex)
- CLASS/Skeletal (category)
- Pathophysiology
- Pathophysiology/Gene locus 3p22
- Pathophysiology/Gene locus 3p22-p21.1
- Pathophysiology/Gene locus Chromosome 3p
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Multiple enchondromas/multiple soft angiomas
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Congenital/developmental (category)
- PROCESS/Eponymic (category)
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Rare disease (ex)
- Synonyms
- Synonym
- Chondrodysplasia with haemangioma, Chondrodysplasia with hemangioma, Chondrodysplasia+haemangioma, Chondrodysplasia+hemangioma, Chondroplasia angiomatosis, Congenital multiple enchondromata with haemangioma ((Kast's syndrome)), Congenital multiple enchondromata with hemangioma ((Kast's syndrome)), Dyschondroplasia and cavernous haemangioma, Dyschondroplasia and Cavernous Hemangioma, Dyschondroplasia+haemangioma, Dyschondroplasia+hemangioma, Enchondromatosis with haemangiomata, Enchondromatosis with hemangiomata, Enchondromatosis+haemangiomata, Enchondromatosis+hemangiomata, Haemangiomata with dyschondroplasia, Haemangiomata+dyschondroplasia, hemangioma chondrodysplasia, Hemangiomata with Dyschondroplasia, Hemangiomata+dyschondroplasia, Kast's syndrome, Maffucci, Maffucci syndrome, Maffucci syndrome (disorder), Maffucci's anomalad, Maffucci's syndrome, Maffuci's syndrome, Multiple enchondromata with haemangioma, Multiple enchondromata with hemangioma, Syndrome Maffucci, Synonym/Dyschondrodysplasia with hemangiomas, Synonym/Dyschondroplasia with hemangiomas, Synonym/Enchondromatosis with multiple carvernous hemangiomas, Synonym/Hemangomatosis chondrodystrophica, Synonym/Kast's syndrome, Synonym/Mafucci syndrome (sp), Synonym/Multiple angiomas and enchondromas
- Definition
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Maffucci Syndrome; Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica; Kast Syndrome; Multiple Angiomas and Endochondromas; Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas); Enchondromas are most often found in certain bones (phalanges) of the hands and feet; Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis) ; In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive; Maffucci Syndrome is inherited as an autosomal dominant genetic trait-----------[NORD 2005]----------------------------------
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- External Links Related to Maffucci syndrome
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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