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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
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 4
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 5
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 4
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 5
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence False Congenital Inferred relationship Some 4
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence False Congenital Inferred relationship Some 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 8
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 9
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 8
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 9
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 7
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 8
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 9
Aplasia of auditory canal Occurrence False Congenital Inferred relationship Some 1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 4
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 5
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence False Congenital Inferred relationship Some 7
Hypoplasia of auditory canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 6
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some 6
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence False Congenital Inferred relationship Some 6
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 6
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence False Congenital Inferred relationship Some 6
Congenital reticular ichthyosiform erythroderma (disorder) Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 1
Congenital infection caused by Zika virus Occurrence True Congenital Inferred relationship Some 1
Left renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Right renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Agenesis of left kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Right renal agenesis Occurrence True Congenital Inferred relationship Some 1
Left renal agenesis co-occurrent with right renal hypoplasia Occurrence True Congenital Inferred relationship Some 2
Left renal agenesis co-occurrent with right renal hypoplasia Occurrence False Congenital Inferred relationship Some 3
Right renal agenesis co-occurrent with left renal hypoplasia Occurrence True Congenital Inferred relationship Some 2
Right renal agenesis co-occurrent with left renal hypoplasia Occurrence False Congenital Inferred relationship Some 3
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Occurrence True Congenital Inferred relationship Some 2
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Occurrence False Congenital Inferred relationship Some 3
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Occurrence True Congenital Inferred relationship Some 2
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Occurrence False Congenital Inferred relationship Some 3
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. Occurrence True Congenital Inferred relationship Some 1
2q33.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Occurrence True Congenital Inferred relationship Some 4
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. Occurrence True Congenital Inferred relationship Some 1
Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. Occurrence True Congenital Inferred relationship Some 1
Submucous cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate, central Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate, bilateral Occurrence True Congenital Inferred relationship Some 1
Incomplete cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate, bilateral Occurrence True Congenital Inferred relationship Some 1
Complete cleft of soft palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Occult submucous cleft palate Occurrence True Congenital Inferred relationship Some 1
Central incomplete cleft palate Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Submucous cleft palate Occurrence True Congenital Inferred relationship Some 1
Central cleft of soft palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterised by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated. Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. Occurrence True Congenital Inferred relationship Some 1
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Occurrence False Congenital Inferred relationship Some 2
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Occurrence False Congenital Inferred relationship Some 2
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Occurrence False Congenital Inferred relationship Some 2
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Occurrence False Congenital Inferred relationship Some 2
A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. Occurrence True Congenital Inferred relationship Some 1
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Occurrence True Congenital Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. Occurrence True Congenital Inferred relationship Some 4
Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. Occurrence True Congenital Inferred relationship Some 1
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 2
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. Occurrence True Congenital Inferred relationship Some 1
Congenital trigeminal anesthesia is a rare neuro-ophthalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). Occurrence True Congenital Inferred relationship Some 3
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short, webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). Occurrence True Congenital Inferred relationship Some 1
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Occurrence True Congenital Inferred relationship Some 3
An extremely rare genetic endocrine disease characterised by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. Occurrence False Congenital Inferred relationship Some 1

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