| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Polyarticular psoriatic arthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| Early onset polyarticular juvenile chronic arthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Reactive arthritis of multiple sites due to and following sexually transmitted disease (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Transient arthropathy of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Lipoid dermatoarthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Reactive arthritis of joint of multiple sites due to and following dysentery |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Generalized osteoarthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Osteoarthrosis involving multiple sites but not designated as generalised |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Oligoosteoarthritis (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Osteoarthritis of multiple joints (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Multiple stiff joints |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| Multiple clicking joints |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Instability of multiple joints (finding) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| Ankylosis of joint of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Diastrophic dysplasia |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Hecht syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Congenital contractural arachnodactyly |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| Inherited arthrogryposis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Familial arthrogryposis-cholestatic hepatorenal syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| Pena-Shokeir syndrome type I (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Marden Walker syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| Kuskokwim syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
9 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
11 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
7 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
7 |
| 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 |
True |
Joint structure of multiple body sites (body 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
2 |
| Arthrogryposis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
9 |
| Congenital arthrogryposis caused by teratogen (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
5 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
11 |
| Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
3 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
8 |
| A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
8 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
9 |
| Gouty arthritis of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
4 |
| Flexion contracture of proximal interphalangeal joints of index, middle, ring and little finger |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
6 |
| Arthritis of multiple sites following helminthiasis (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Some |
1 |
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