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Multiple osteochondromas
3 OMIM references -
2 associated genes
13 connected diseases
38 signs/symptoms
Disease Type of connection
Chondrosarcoma
Langer-Giedion syndrome
Potocki-Shaffer syndrome
Hyperinsulinism due to HNF4A deficiency
Leber congenital amaurosis
MODY syndrome
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Multiple endocrine neoplasia type 1
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Synonym(s):
- Bessel-Hagen disease
- EXT1/EXT2-CDG
- Multiple cartilaginous exostoses
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EXT1 Q16394608177
EXT2 Q93063608210
Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anteverted nares / nostrils
- Arthritis / synovitis / synovial proliferation
- Bone pain
- Bone tumefaction / swelling
- Cranial nerves palsy
- Exostoses
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Genu valgum
- Insterstitial / subtelomeric microdeletion / deletion
- Madelung's deformity
- Metaphyseal anomaly
- Muscle weakness / flaccidity
- Osteonecrosis / bone infarction
- Periarticular tissue anomaly / extraarticular calcifications
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Upper limb segmental anomalies

Occasional
- Arterial aneurism (excluding aorta)
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Elbow dislocation
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Mutiple fractures / bone fragility
- Neoplasms / tumors
- Osteoarthritis
- Osteolysis / osteoclasia / bone destruction / erosions
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Pyramidal syndrome
- Scoliosis
- Synostosis