Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Foot joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Hand joint range of movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Some |
|
Inherited arthrogryposis |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
7 |
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. |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
3 |
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Interprets |
True |
Range of joint movement |
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). |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Contracture of joint |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
On examination - reduced joint movement |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
4 |
On examination - reduced movement of spine |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
On examination - reduced movement of arm |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
2 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
Contracture of multiple joints |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Contracture of joint following injury (disorder) |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Congenital arthrogryposis caused by teratogen (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
On examination - reduced movement of wrist |
Interprets |
False |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
9 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Temporomandibular joint stiff |
Interprets |
False |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
6 |
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
4 |
Kuskokwim syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Congenital contractural arachnodactyly |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Multiple stiff joints |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Morning stiffness - joint |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
Marfanoid joint hypermobility syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Hypermobility of joint |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
1 |
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
5 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
A painful restriction of joint motion caused by excessive scarring following injury or operative procedure. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
Hypermobility syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Hypermobile Ehlers-Danlos syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
5 |
Generalized benign joint hypermobility |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Localised benign joint hypermobility |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
6 |
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
6 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
3 |
Diastrophic dysplasia |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Pena-Shokeir syndrome type I (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
Marden Walker syndrome |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
7 |
Hecht syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple |
Interprets |
True |
Range of joint movement |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
7 |
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
5 |
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. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
7 |
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). |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
5 |
Progressive flexion contracture of joint (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Some |
2 |