Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Decreased passive range of knee internal rotation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of knee external rotation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of knee flexion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of knee flexion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Inherited arthrogryposis |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
7 |
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. |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Bilateral contracture of joints of wrists |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of joint of finger co-occurrent and due to scar (disorder) |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
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). |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Congenital abduction contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Contracture of joint of right ankle (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
On examination - reduced joint movement |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
4 |
On examination - reduced movement of spine |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
On examination - reduced movement of arm |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Joint contracture of the ankle and foot |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Joint contracture of the ankle and foot |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of right elbow joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
4 |
Bilateral contracture of joints of knees |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Contracture of multiple joints |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Contracture of joint following injury (disorder) |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Congenital arthrogryposis caused by teratogen (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
On examination - reduced movement of wrist |
Has interpretation |
False |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
9 |
Congenital flexion contracture of hip |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joints of bilateral hips (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Congenital contracture of toe joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joint of finger |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of left hip joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Flexion contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Abduction contracture-shoulder |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Abduction contracture of hip |
Has interpretation |
True |
Decreased |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of joints of bilateral elbows (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Temporomandibular joint stiff |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
1 |
Congenital extension contracture of the knee |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Contracture of right knee joint (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
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. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
6 |
Kuskokwim syndrome |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Keratoconjunctivitis sicca due to graft-versus-host disease (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
5 |
Congenital contractural arachnodactyly |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Pseudopseudohypoparathyroidism |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Benign congenital hypotonia |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Below reference range |
Is a |
True |
Decreased |
Inferred relationship |
Some |
|
Decreased active range of thumb flexion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of thumb flexion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of thumb extension |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of thumb extension |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of thumb abduction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of thumb abduction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of thumb adduction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of thumb adduction |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of thumb opposition |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of thumb opposition |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of midtarsal pronation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of midtarsal pronation |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased active range of midtarsal supination |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased passive range of midtarsal supination |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of passive inversion of subtalar joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of active inversion of subtalar joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of passive eversion of subtalar joint (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of active eversion of subtalar joint |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of thumb movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of foot movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of subtalar movement |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of cervical spine flexion and extension (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased range of cervical spine flexion and extension (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type I A |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type 1C (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
3 |
Cardiac syncope |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal. |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
On examination - skin over lesion cold |
Has interpretation |
False |
Decreased |
Inferred relationship |
Some |
2 |
Cold skin over lesion |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Cold and clammy skin |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decline in Edinburgh postnatal depression scale score (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
2 |
Decline in Edinburgh postnatal depression scale score at 8 months (finding) |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |
Decreased emotional excitability |
Has interpretation |
True |
Decreased |
Inferred relationship |
Some |
1 |