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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 systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
Senter syndrome Occurrence True Congenital Inferred relationship Some 5
Ichthyosis hystrix gravior (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 2
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 3
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 4
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 5
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Some 7
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Occurrence True Congenital Inferred relationship Some 1
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Some 1
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Some 2
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Some 3
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Some 4
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. Occurrence True Congenital Inferred relationship Some 1
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Occurrence True Congenital Inferred relationship Some 2
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 3
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Occurrence True Congenital Inferred relationship Some 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Some 2
Localised non-Herlitz junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Congenital isolated onychodysplasia Occurrence True Congenital Inferred relationship Some 1
imperforation de valve commune atrioventriculaire Occurrence False Congenital Inferred relationship Some 2
Common atrioventricular valve limited to one ventricle Occurrence True Congenital Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Triple orifice of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Ebstein's anomaly of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae too short Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae too long Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae to outlet septum Occurrence True Congenital Inferred relationship Some 2
Arcade abnormality of common atrioventricular valve chordae Occurrence True Congenital Inferred relationship Some 2
Atresia of common atrioventricular valve Occurrence False Congenital Inferred relationship Some 2
Hypoplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Dysplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 2
Fused common atrioventricular valve papillary muscle Occurrence False Congenital Inferred relationship Some 2
Hypoplastic common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve in atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 2
Trifoliate left atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet (disorder) Occurrence True Congenital Inferred relationship Some 2
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 1
Triple orifice of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
Common atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 3
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
True cleft of common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Congenital complete absence of left upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of right upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Occurrence True Congenital Inferred relationship Some 1
Sporadic camptodactyly Occurrence True Congenital Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 2
Congenital hypogammaglobulinaemia Occurrence True Congenital Inferred relationship Some 2
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. Occurrence True Congenital Inferred relationship Some 1
Kartagener syndrome Occurrence True Congenital Inferred relationship Some 6
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. Occurrence True Congenital Inferred relationship Some 3
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. Occurrence True Congenital Inferred relationship Some 1
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Occurrence True Congenital Inferred relationship Some 1
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Some 4
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

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