| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
4 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
5 |
| Dupuytren's contracture |
Is a |
False |
Contracture |
Inferred relationship |
Some |
|
| 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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
5 |
| A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
7 |
| A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
6 |
| 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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
False |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
7 |
| 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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
3 |
| Contracture of plantar fascia |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Division of Dupuytren's contracture of foot |
Direct morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Lethal multiple pterygium syndrome |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
3 |
| Multiple pterygium syndrome |
Associated morphology |
False |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Associated morphology |
True |
Contracture |
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). |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
1 |
| An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
3 |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Associated morphology |
False |
Contracture |
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. |
Associated morphology |
False |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
3 |
| Congenital abduction contracture of hip |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
False |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
False |
Contracture |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
3 |
| Contracture of muscle of left hand (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of left lower leg (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of right lower leg (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of bilateral lower legs (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of bilateral lower legs (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of muscle of bilateral upper arms (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of bilateral upper arms (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of muscle of right upper arm (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of bilateral hands (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of muscle of bilateral hands (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of left upper arm (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of muscle of right hand (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of bilateral Achilles tendons (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of bilateral Achilles tendons (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Bilateral contracture of joints of ankles |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Bilateral contracture of joints of ankles |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of joints of bilateral elbows (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of joints of bilateral elbows (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Bilateral contracture of joints of knees |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Bilateral contracture of joints of knees |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of joints of bilateral hips (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of joints of bilateral hips (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Bilateral contracture of joints of wrists |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Bilateral contracture of joints of wrists |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Division of palmar aponeurosis for correction of Dupuytren contracture (procedure) |
Direct morphology |
True |
Contracture |
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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Contracture of joint of right ankle (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of joint of left wrist (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of right elbow joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of left hip joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of left knee joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of left Achilles tendon (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of right Achilles tendon (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of joint of right wrist (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of right hip joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of joint of left ankle (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of right knee joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of left elbow joint (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Flexion contracture |
Is a |
True |
Contracture |
Inferred relationship |
Some |
|
| Extension contracture (morphologic abnormality) |
Is a |
True |
Contracture |
Inferred relationship |
Some |
|
| 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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Abduction contracture (morphologic abnormality) |
Is a |
True |
Contracture |
Inferred relationship |
Some |
|
| 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. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
2 |
| Adduction contracture (morphologic abnormality) |
Is a |
True |
Contracture |
Inferred relationship |
Some |
|
| Contracture of muscle following injury |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
4 |
| A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Contracture of joint of finger co-occurrent and due to scar (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
| Lethal tight skin contracture syndrome (disorder) |
Associated morphology |
True |
Contracture |
Inferred relationship |
Some |
1 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]