Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
5 |
Joint temperature |
This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends. |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Rheumatoid arthritis in remission (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Seropositive rheumatoid arthritis of multiple joints (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
8 |
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
5 |
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
6 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
5 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
7 |
Primary open reduction of dislocation and wire fixation |
Procedure site - Direct (attribute) |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Primary open reduction of dislocation and wire fixation |
Procedure site - Direct (attribute) |
True |
Joint structure |
Inferred relationship |
Some |
4 |
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
8 |
Arthropathy caused by fungus following fungal infection |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Parasitic postinfectious arthritis |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
Arthropathy in Crohn's disease |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Arthritis due to and following viral infection (disorder) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Destruction of joint caused by hemiarthroplasty (disorder) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
Oligoosteoarthritis (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid arthritis with erosion of joint (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Rheumatoid arthritis without erosion |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Acute polyarticular juvenile idiopathic arthritis (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Joint loose body specimen (specimen) |
Specimen source topography |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Open debridement of joint (procedure) |
Procedure site - Direct (attribute) |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Infective polyarthritis caused by bacteria |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Polyarticular juvenile idiopathic arthritis |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Joint implant in situ |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid pericarditis |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
Infective arthritis of left shoulder |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Infective arthritis of right shoulder |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Infective arthritis of left hip |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Infective arthritis of right hip (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Infective arthritis of left ankle (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Infective arthritis of right ankle |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Recurrent instability of joint |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Prosthetic joint infection |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Cytologic material obtained from synovial fluid (specimen) |
Specimen source topography |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Removal of joint prosthesis for periprosthetic joint infection (procedure) |
Procedure site - Indirect (attribute) |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Rheumatoid arthritis of left knee (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Bilateral chronic tophaceous gout of hands |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Chronic tophaceous gout of bilateral elbows (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
4 |
Arthritis of acromioclavicular joint (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of knee |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Flexion deformity |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Ganglion of multiple joints (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid arthritis in remission (disorder) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Revision of component of total prosthetic replacement of elbow joint |
Procedure site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Revision of component of total prosthetic replacement of elbow joint not using cement (procedure) |
Procedure site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Instability of multiple joints (finding) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
On examination - joint unstable |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Instability of joint (finding) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
Chronic instability of joint |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
3 |
Recurrent instability of joint |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
3 |
Deep full thickness burn involving joint (disorder) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
3 |
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Cyclic citrullinated peptide antibody positive arthralgia (finding) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of left shoulder (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of right hip (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid lung disease with rheumatoid arthritis |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of right shoulder |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of right knee (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis with erosion of joint (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
2 |
Rheumatoid arthritis of left hand |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid arthritis of right hand (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Rheumatoid arthritis of left hip (disorder) |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Joint structure of multiple body sites (body structure) |
Is a |
True |
Joint structure |
Inferred relationship |
Some |
|
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
1 |
Hypermobile Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
3 |
Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. |
Finding site |
True |
Joint structure |
Inferred relationship |
Some |
1 |
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
Finding site |
False |
Joint structure |
Inferred relationship |
Some |
3 |
Meniscus structure of joint |
Is a |
False |
Joint structure |
Inferred relationship |
Some |
|