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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
A rare primary congenital hypothyroidism characterised by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms. Occurrence True Congenital Inferred relationship Some 1
A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system. Occurrence True Congenital Inferred relationship Some 1
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. Occurrence True Congenital Inferred relationship Some 1
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. Occurrence True Congenital Inferred relationship Some 2
Isolated distichiasis is a rare congenital eyelid anomaly. The disease has characteristics of an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices. This is not associated with any other condition and that may lead to ocular irritation and corneal damage if left untreated. Occurrence True Congenital Inferred relationship Some 1
Isolated distichiasis is a rare congenital eyelid anomaly. The disease has characteristics of an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices. This is not associated with any other condition and that may lead to ocular irritation and corneal damage if left untreated. Occurrence True Congenital Inferred relationship Some 2
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 3
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 4
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 5
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 6
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 7
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 2
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Some 2
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Occurrence True Congenital Inferred relationship Some 5
syndrome de dyschondrostéose - néphropathie Occurrence False Congenital Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Occurrence True Congenital Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Occurrence True Congenital Inferred relationship Some 4
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Occurrence True Congenital Inferred relationship Some 3
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Occurrence True Congenital Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence True Congenital Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence True Congenital Inferred relationship Some 5
Nievergelt's syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 7
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence True Congenital Inferred relationship Some 7
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 1
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. Occurrence True Congenital Inferred relationship Some 2
Perimembranous ventricular septal defect with extension to right ventricular inlet Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to right ventricular trabecular component Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to right ventricular outlet Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to all right ventricular components (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital trigger finger Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Occurrence True Congenital Inferred relationship Some 4
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 3
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Occurrence True Congenital Inferred relationship Some 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous inlet ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Occurrence True Congenital Inferred relationship Some 3
Central basal perimembranous ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 3
True cleft of left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Occurrence True Congenital Inferred relationship Some 8
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Occurrence True Congenital Inferred relationship Some 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 3
A rare mitochondrial oxidative phosphorylation disorder characterised by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver. Occurrence True Congenital Inferred relationship Some 1
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. Occurrence True Congenital Inferred relationship Some 1
Aplasia of external auditory canal (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare congenital vascular malformation of the major vessels with characteristics of a persistent left superior vena cava that drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and this is discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolisation may be associated. Occurrence True Congenital Inferred relationship Some 1
A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described. Occurrence True Congenital Inferred relationship Some 1
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. Occurrence True Congenital Inferred relationship Some 1
Marden Walker syndrome Occurrence True Congenital Inferred relationship Some 1
Marden Walker syndrome Occurrence True Congenital Inferred relationship Some 2
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. Occurrence True Congenital Inferred relationship Some 6
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. Occurrence True Congenital Inferred relationship Some 6
A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. Occurrence True Congenital Inferred relationship Some 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Some 2
Congenital malposition of left external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malposition of right external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Occurrence True Congenital Inferred relationship Some 4
A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others. Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Occurrence True Congenital Inferred relationship Some 2
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine. Occurrence True Congenital Inferred relationship Some 1
Adrenoleukodystrophy Occurrence True Congenital Inferred relationship Some 4
Adrenomyeloneuropathy (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital incomplete closure of velopharyngeal apparatus due to anatomical abnormality (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left ovary Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left fallopian tube Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right fallopian tube (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left fallopian tube Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right fallopian tube (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 4
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 5
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 6
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 7
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Occurrence True Congenital Inferred relationship Some 8
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Some 1
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Some 2
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Some 3
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Occurrence True Congenital Inferred relationship Some 2
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Occurrence True Congenital Inferred relationship Some 3
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Occurrence True Congenital Inferred relationship Some 4
A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. Occurrence True Congenital Inferred relationship Some 3
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Some 3
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Occurrence True Congenital Inferred relationship Some 3

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