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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

995 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Some
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachydactyly syndrome type B (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpenter's syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
brevicollis congénital Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myotonia, autosomal recessive form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchiooculofacial syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prune belly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brody myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cap myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Baller-Gerold syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Antley-Bixler syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Atelosteogenesis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jackson-Weiss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive myositis ossificans Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia, Braun-Tinschert type is characterized by metaphyseal undermodeling with broadening of the long bones and femora with an Erlenmeyer flask appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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