| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| The body part defined by the shoulder joint and its surrounding structures |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Entire joint region (body structure) |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Elbow region structure |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Joint structure |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| The body part defined by the wrist joint and surrounding structures |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| The body part defined by the hip joint and surrounding structures, including the region from the iliac crest to the thigh |
Is a |
False |
Structure of joint region |
Inferred relationship |
Some |
|
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Arthrogryposis |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
2 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
2 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| à l'examen : contracture articulaire |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Flexion contracture |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Structure of soft tissue of joint region |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Amyoplasie, kongenitale |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| On examination - flexion contracture |
Finding site |
False |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
4 |
| Structure of hand joint region (body structure) |
Is a |
True |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Structure of joint region of spine |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Structure of joint region of lower limb |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Inherited arthrogryposis |
Finding site |
True |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
5 |
| 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 |
Structure of joint region |
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 |
True |
Structure of joint region |
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 |
Structure of joint region |
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 |
True |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
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 |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
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 |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
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 |
True |
Structure of joint region |
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 |
True |
Structure of joint region |
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 |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
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 |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Congenital neuropathy with arthrogryposis multiplex congenita |
Finding site |
False |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
3 |
| 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 |
True |
Structure of joint region |
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. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Finding of joint movement |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Contracture of joint |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Joint stiffness |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| On examination - reduced joint movement |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| On examination - reduced movement of spine |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| On examination - reduced movement of arm |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Disorder of joint region |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Contracture of multiple joints |
Finding site |
False |
Structure of joint region |
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 |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Contracture of joint following injury (disorder) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Familial arthrogryposis-cholestatic hepatorenal syndrome |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
4 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Congenital arthrogryposis caused by teratogen (disorder) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| à l'examen : mouvement de l'articulation |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| On examination - reduced movement of wrist |
Finding site |
False |
Structure of joint region |
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 |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Range of joint movement normal |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Finding of range of joint movement |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Range of joint movement increased |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Active range of joint movement increased |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Passive range of joint movement increased |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| à l'examen : aucune anomalie détectée au mouvement de l'articulation |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
1 |
| à l'examen : mouvement de l'articulation anormal |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
3 |
| Active range of joint movement reduced |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Passive range of joint movement reduced |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Joint movement absent |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Active range of joint movement absent |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| On examination - joint stiff |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Passive range of joint movement absent |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Active range of joint movement normal |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Limitation of joint movement |
Finding site |
True |
Structure of joint region |
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 |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Capsular pattern of joint movement limitation (finding) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Kuskokwim syndrome |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
7 |
| Joint function disorder |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Joint catching (finding) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Congenital contractural arachnodactyly |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Multiple stiff joints |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Joint movement NAD |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Immobility stiffness |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Passive range of joint movement normal |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Weakness of joint movement |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Morning stiffness - joint |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Structure of temporomandibular joint region |
Is a |
True |
Structure of joint region |
Inferred relationship |
Some |
|
| Passive joint movement greater than active joint movement |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Joint moves with gravity (finding) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Joint moves against resistance |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| Joint moves against gravity (finding) |
Finding site |
True |
Structure of joint region |
Inferred relationship |
Some |
1 |
| 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 |
Structure of joint region |
Inferred relationship |
Some |
2 |
| Familial normophosphatemic tumoral calcinosis |
Finding site |
False |
Structure of joint region |
Inferred relationship |
Some |
2 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]