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1 associated gene
6 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
6 signs/symptoms
Melorheostosis with osteopoikilosis
Isolated osteopoikilosis

LEMD3 LEMD3


COMMON
GENES
LEMD3



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Isolated osteopoikilosis



Melorheostosis with osteopoikilosis
Isolated osteopoikilosis

Synonym(s):
- MSBD syndrome
- Mixed sclerosing bone dystrophy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Osteosclerosis / osteopetrosis / bone condensation
- Subcutaneous nodules / lipomas / tumefaction / swelling


Melorheostosis with osteopoikilosis
Isolated osteopoikilosis

Very frequent
- Cortical anomaly / thick bone cortical layer

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Chronic arterial hypertension
- Xanthomas / lipomas


Very frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Ectopic / horseshoe / fused kidneys
- Microcephaly
- Short stature / dwarfism / nanism