Disease Information for Maffucci syndrome

Ads
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

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]----------------------------------

(Edit)

External Links Related to Maffucci syndrome
Google
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)
Ads