| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Pyknodysostosis |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Peripheral dysostosis |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis disorder with characteristics of abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cystinuria, type 1 |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Stewart-Morel-Morgagni syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic congenital limb malformation with characteristics of bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the mid phalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Leigh syndrome with nephrotic syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hereditary progressive muscular dystrophy |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Osteopetrosis |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Osteosclerosis |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Reunion Island Larsen-like syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of 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. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Triphalangeal thumb and polysyndactyly syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| X-bundet dominant chondrodysplasia punctata |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Lethal multiple pterygium syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic dysostosis syndrome with characteristics of intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow small pelvis, lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Genetically determined myasthenia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Amyotonia congenita |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hereditary acroosteolysis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| hereditær spastisk lammelse |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Dysplasia epiphysealis hemimelica |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Metachondromatosis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Schwartz-Jampel syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Pseudodiastrophic dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Brachyolmia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Desbuquois syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Francois syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Blomstrand dysplasia (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Jarcho-Levin syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Larsen syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Seckel syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Diastrophic dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Caylers kardiofaciale syndrom |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Desmosterolosis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
FHIR