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Torg-Winchester syndrome
2 OMIM references -
2 associated genes
65 connected diseases
22 signs/symptoms
Disease Type of connection
Nodulosis-arthropathy-osteolysis syndrome
Normosmic congenital hypogonadotropic hypogonadism
Sorsby's fundus dystrophy
Giant cell glioblastoma
Gliosarcoma
Familial osteochondritis dissecans
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Ichthyosis - hypotrichosis - sclerosing cholangitis
Caffey disease
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Camurati-Engelmann disease
Cystic fibrosis
Knobloch syndrome
Williams syndrome
Autosomal recessive limb girdle muscular dystrophy type 2A
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Acral dystrophic epidermolysis bullosa
Baraitser-Winter syndrome
Berardinelli-Seip congenital lipodystrophy
Bethlem myopathy
Centripetalis recessive dystrophic epidermolysis bullosa
Congenital factor XII deficiency
Congenital muscular dystrophy, Ullrich type
Congenital stromal corneal dystrophy
Developmental malformations - deafness - dystonia
Diffuse cutaneous systemic sclerosis
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Familial prostate cancer
Generalized dominant dystrophic epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hereditary angioedema type 3
Heritable pulmonary arterial hypertension
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa, Herlitz type
Limited cutaneous systemic sclerosis
Metaphyseal anadysplasia
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Spondyloepimetaphyseal dysplasia, Missouri type
Transient bullous dermolysis of the newborn
Familial cerebral saccular aneurysm
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Synonym(s):
- Winchester syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C536051

Gene symbol UniProt reference OMIM reference
MMP14 P50281600754
MMP2 P08253120360
Very frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal recessive inheritance
- Claw hand / retracted fingers
- Epiphyseal anomaly
- Metaphyseal anomaly
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis
- Wrist / carpal anomalies

Frequent
- Coarse face
- Corneal clouding / opacity / vascularisation
- Frontal bossing / prominent forehead
- Hirsutism / hypertrichosis / Increased body hair
- Irregular / in bands / reticular skin hyperpigmentation
- Long / large / bulbous nose
- Thick lips
- Thick skin / pachydermia / orange skin
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Atrial septal defect / interauricular communication
- Subcutaneous nodules / lipomas / tumefaction / swelling