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255399007: Congenital (qualifier value)

Status: current, Not 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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Occurrence True Congenital Inferred relationship Some 5
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. Occurrence True Congenital Inferred relationship Some 1
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. Occurrence True Congenital Inferred relationship Some 2
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. Occurrence True Congenital Inferred relationship Some 3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital paraplegia Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Occurrence True Congenital Inferred relationship Some 2
A rare congenital haemangioma characterised by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital haemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumour virtually indistinguishable from non-involuting congenital haemangioma remains. This lesion grows proportionally with the child and does not regress. Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Occurrence True Congenital Inferred relationship Some 1
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Occurrence True Congenital Inferred relationship Some 2
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported. Occurrence True Congenital Inferred relationship Some 1
A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Occurrence True Congenital Inferred relationship Some 1
Neonatal jaundice with congenital hypothyroidism Occurrence False Congenital Inferred relationship Some 5
A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet. Occurrence True Congenital Inferred relationship Some 1
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. Occurrence True Congenital Inferred relationship Some 1
Reticular dysgenesis Occurrence True Congenital Inferred relationship Some 3
Severe combined immunodeficiency with reticular dysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 5
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Reticular dysgenesis with congenital aleucocytosis Occurrence True Congenital Inferred relationship Some 4
PEX5 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX6 deficiency Occurrence True Congenital Inferred relationship Some 1
Beta chain electron transfer flavoprotein deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Alpha chain electron transfer flavoprotein deficiency Occurrence True Congenital Inferred relationship Some 1
Severe infantile form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Some 1
PEX1 deficiency Occurrence True Congenital Inferred relationship Some 1
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency Occurrence True Congenital Inferred relationship Some 1
PEX10 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX13 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX12 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX16 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX14 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX26 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX3 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX19 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX2 deficiency Occurrence True Congenital Inferred relationship Some 1
Non-syndromic mitochondrial sensorineural deafness (disorder) Occurrence True Congenital Inferred relationship Some 1
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Myopathic form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Some 1
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. Occurrence True Congenital Inferred relationship Some 1
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others. Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV assembly gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex II structural subunit gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex III assembly gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex II assembly gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex I structural subunit gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex I assembly gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex III structural subunit gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Occurrence True Congenital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Some 3
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. Occurrence True Congenital Inferred relationship Some 1
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. Occurrence True Congenital Inferred relationship Some 2
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Occurrence True Congenital Inferred relationship Some 1
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Occurrence True Congenital Inferred relationship Some 2
A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 2
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. Occurrence True Congenital Inferred relationship Some 1
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. Occurrence True Congenital Inferred relationship Some 2
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement. Occurrence True Congenital Inferred relationship Some 1
Actin accumulation myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Intermediate nemaline myopathy Occurrence True Congenital Inferred relationship Some 1
Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates. Occurrence True Congenital Inferred relationship Some 1
A type of nemaline myopathy (NM) only observed in several families of the Amish community. Occurrence True Congenital Inferred relationship Some 1
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. Occurrence True Congenital Inferred relationship Some 1
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. Occurrence True Congenital Inferred relationship Some 2
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. Occurrence True Congenital Inferred relationship Some 3
A benign form of holoprosencephaly characterised by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. Occurrence True Congenital Inferred relationship Some 1
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. Occurrence True Congenital Inferred relationship Some 2
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. Occurrence True Congenital Inferred relationship Some 3
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. Occurrence True Congenital Inferred relationship Some 1
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Occurrence True Congenital Inferred relationship Some 1
A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. Occurrence True Congenital Inferred relationship Some 1
Portosystemischer Shunt, kongenitaler Occurrence False Congenital Inferred relationship Some 1
Portosystemischer Shunt, kongenitaler Occurrence False Congenital Inferred relationship Some 2
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Occurrence True Congenital Inferred relationship Some 2
A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. Occurrence True Congenital Inferred relationship Some 2
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. Occurrence True Congenital Inferred relationship Some 4
A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. Occurrence True Congenital Inferred relationship Some 1
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Occurrence True Congenital Inferred relationship Some 1
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Occurrence True Congenital Inferred relationship Some 2
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Occurrence True Congenital Inferred relationship Some 3
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Occurrence True Congenital Inferred relationship Some 1
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Occurrence True Congenital Inferred relationship Some 2
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Occurrence True Congenital Inferred relationship Some 3
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Occurrence True Congenital Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Occurrence True Congenital Inferred relationship Some 3

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