Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Beginning of range of joint movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
End of range of joint movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Cervical spine - range of movement |
Is a |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Thoracic spine - range of movement |
Is a |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Lumbar spine - range of movement |
Is a |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Shoulder joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Elbow joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Finger joint - range of movement |
Is a |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Ankle joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Toe joint - range of movement |
Is a |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Wrist joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Hip joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Knee joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Range of passive joint movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Neck joint - range of movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Spine - range of movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Limitation of movement of temporomandibular joint |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Hip joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Interphalangeal joint of toe hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Finding of range of joint movement |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Range of joint movement increased |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Temporomandibular joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Passive range of joint movement increased |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Knee joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Active range of joint movement increased |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hypermobility of spine |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Cervical spine hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Lumbar spine hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Shoulder joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Elbow joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Wrist joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hand joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Metacarpophalangeal joint hypermobility (finding) |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Finger joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Thumb joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Sacroiliac joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Ankle joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Foot joint hypermobility (finding) |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hypermobility of subtalar joint |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Metatarsophalangeal joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Excessive mobility of patella |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Excessive mobility of patella |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Sacroiliac joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Finger joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hip joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Metatarsophalangeal joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Interphalangeal joint of toe hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hypermobility of spine |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Temporomandibular joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Active range of joint movement increased |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Passive range of joint movement increased |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hand joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Range of joint movement increased |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Lumbar spine hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Shoulder joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Hypermobility of subtalar joint |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Cervical spine hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Ankle joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Knee joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Foot joint hypermobility (finding) |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Thumb joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Elbow joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Wrist joint hypermobility |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Metacarpophalangeal joint hypermobility (finding) |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Temporomandibular joint stiff |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
|
Active range of joint movement normal |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Passive range of joint movement normal |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Range of joint movement normal |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Passive range of joint movement normal |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Active range of joint movement normal |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
1 |
Range of joint movement normal |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Arthrogryposis |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Contracture of joint of spine (disorder) |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Capsular pattern of joint movement limitation (finding) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Limitation of movement of temporomandibular joint |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Joint movement absent |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
à l'examen : contracture articulaire |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
Flexion contracture |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Limitation of joint movement |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
5 |
Amyoplasie, kongenitale |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
On examination - flexion contracture |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
Active range of joint movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Congenital generalized flexion contractures of lower limb joints |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |