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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
Desmosterolosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Grebe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Marshall-Smith syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary camptodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myopathy associated with hydrocephalus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Achondroplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Huntington's chorea Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type I (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Kniest-like syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kniest dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rolland-Debuqois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blount disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Saethre-Chotzen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic bone development disorder characterized by involvement of the clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysmorphic sialidosis, infantile form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Curry-Hall syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial hypokalemic periodic paralysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Floating-Harbor syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked myotubular myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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