| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Inherited arthrogryposis |
Is a |
True |
Arthrogryposis |
Inferred relationship |
Some |
|
| Akabane virus disease |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Familial arthrogryposis-cholestatic hepatorenal syndrome |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Amyoplasie, kongenitale |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Arthrogryposis, unspecified |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Other arthrogryposis syndromes |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital arthrogryposis caused by teratogen (disorder) |
Is a |
True |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital arthrogryposis due to Akabane virus |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital flexion contracture of hip |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital extension contracture of the knee |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital generalized flexion contractures of lower limb joints |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital contracture of toe joint |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Familial arthrogryposis-cholestatic hepatorenal syndrome |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital flexion contracture of knee |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital abduction contracture of hip |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Congenital neuropathy with arthrogryposis multiplex congenita |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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). |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Multiple pterygium syndrome |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Is a |
False |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Arthrogryposis |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Arthrogryposis |
Inferred relationship |
Some |
|
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