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Buschke-Ollendorff syndrome
1 OMIM reference -
1 associated gene
33 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 4
Isolated osteopoikilosis
1 OMIM reference -
1 associated gene
6 signs/symptoms
Buschke-Ollendorff syndrome
Isolated osteopoikilosis

LEMD3
(UniProt - OMIM)
 LEMD3
(UniProt - OMIM)

COMMON
GENES 		LEMD3


Citations in the biomedical literature:


Buschke-Ollendorff syndrome
LEMD3
Isolated osteopoikilosis



Buschke-Ollendorff syndrome
Isolated osteopoikilosis

Synonym(s):
- Disseminated dermatofibrosis with osteopoikilosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537415
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Osteosclerosis / osteopetrosis / bone condensation
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling

Buschke-Ollendorff syndrome
Isolated osteopoikilosis

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
- 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
- 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


Very frequent
- Ectopic / horseshoe / fused kidneys
- Microcephaly