| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Endosteal hyperostoses (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Oculopharyngeal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy characterized by slowly progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Huntington's chorea |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Pelvismuskeldystrofi |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Distal muscular dystrophy with juvenile onset |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Dyschondrosteosis and nephritis syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Tibial muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Severe childhood autosomal recessive muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| General paresis - neurosyphilis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Boomerang dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Autosomal recessive limb girdle muscular dystrophy type 2R |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Atelosteogenesis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Becker muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Osteosclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare neurodegenerative disease with characteristics of progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Caused by mutation in the ITM2B gene. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Nievergelt's syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Pseudodiastrophic dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Akinetic-rigid form of Huntington's disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Hydrocalycosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Wolcott-Rallison dysplasia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Lenz-Majewski hyperostosis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Atelosteogenesis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Epiphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Worth disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Erbs muskulære dystrofi |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Progressive avascular necrosis of lunate |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Muskeldystrofi – døvstumhedssyndrom |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Congenital muscular dystrophy type 1A |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Congenital hereditary muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Fukuyama congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
| Merosin deficient congenital muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Walker-Warburg congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Muscle-eye-brain disease, congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Distal muscular dystrophy, Miyoshi type |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Steinert myotonic dystrophy syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Reunion Island Larsen-like syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Diastrophic dysplasia |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Emery-Dreifuss muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple dislocations with dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Menopausalt muskeldystrofisyndrom |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Desbuquois syndrome (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Spondyloepimetafyseal dysplasi med løshed i led |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Multipel epifyseal dysplasia tarda, type 3a |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Progressive systemic sclerosis (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Distal myopathy 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Okulær muskeldystrofi |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Dementia paralytica juvenilis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Duchenne muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
FHIR