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Camurati-Engelmann disease
1 OMIM reference -
1 associated gene
52 connected diseases
49 signs/symptoms
Disease Type of connection
Cystic fibrosis
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Familial cerebral saccular aneurysm
Hereditary hemorrhagic telangiectasia
Multiple keratoacanthoma, Ferguson-Smith type
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Heritable pulmonary arterial hypertension
Miller-Dieker syndrome
Congenital stromal corneal dystrophy
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Early-onset autosomal dominant Alzheimer disease
Familial avascular necrosis of femoral head
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Peters anomaly
Metaphyseal anadysplasia
Cobblestone lissencephaly without muscular or ocular involvement
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
20p12.3 microdeletion syndrome
Aneurysm - osteoarthritis syndrome
Brachydactyly type A2
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Oligodontia
Synonym(s):
- Progressive diaphyseal dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D003966
Gene symbol UniProt reference OMIM reference
TGFB1 P01137190180
Very frequent
- Anomalies of spine, vertebrae and pelvis
- Autosomal dominant inheritance
- Bone pain
- Cortical anomaly / thick bone cortical layer
- Diaphyseal anomaly
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hyperostosis
- Osteosclerosis / osteopetrosis / bone condensation
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Skull / cranial anomalies
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Abnormal gait
- Metaphyseal anomaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis

Occasional
- Abnormal fat distribution / lipodystrophy
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anaemia
- Anorexia
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Bladder and ureter anomalies
- Cardiomyopathy / hypertrophic / dilated
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Facial dysmorphism
- Facial palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat foot
- Frontal bossing / prominent forehead
- Genu valgum
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Leukopenia / hypoleukocytosis
- Lordosis
- Marfanoid morphotype
- Multiple caries
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proptosis / exophthalmos
- Scoliosis
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly