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Buschke-Ollendorff syndrome
1 OMIM reference -
1 associated gene
28 connected diseases
33 signs/symptoms
Disease Type of connection
12q14 microdeletion syndrome
Isolated osteopoikilosis
Melorheostosis with osteopoikilosis
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Heritable pulmonary arterial hypertension
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- Disseminated dermatofibrosis with osteopoikilosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
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
External references:
1 OMIM reference -
1 MeSH reference: C537415
Gene symbol UniProt reference OMIM reference
LEMD3 Q9Y2U8607844
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
- Osteosclerosis / osteopetrosis / bone condensation
- 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
- Subcutaneous nodules / lipomas / tumefaction / swelling