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1 associated gene
6 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
33 signs/symptoms
Melorheostosis with osteopoikilosis
Buschke-Ollendorff syndrome

LEMD3 LEMD3


COMMON
GENES
LEMD3



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Buschke-Ollendorff syndrome



Melorheostosis with osteopoikilosis
Buschke-Ollendorff syndrome

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

Synonym(s):
- Disseminated dermatofibrosis with osteopoikilosis

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
- Rare skin 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:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537415


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


Melorheostosis with osteopoikilosis
Buschke-Ollendorff syndrome

Very frequent
- Cortical anomaly / thick bone cortical layer

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


Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anomalies of bones / skeletal anomalies
- Autosomal dominant inheritance
- Bone pain
- Diabetes mellitus
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Hyperostosis
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Metaphyseal anomaly
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Sarcoma
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

Frequent
- Mediastinal / hilar adenopathies
- Strabismus / squint

Occasional
- Abnormal scarring / cheloids / hypertrophic scars
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Diaphyseal anomaly
- Insulin-dependent / type 1 diabetes
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Mutiple fractures / bone fragility
- Myalgia / muscular pain
- Palmoplantar hyperkeratosis / keratoderma
- Pigmented naevi / naevus pigmentosus / lentigo