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Cri-du-Chat Syndrome definition: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
cri du chat syndrome definition: infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5.
chromosome 5p deletion syndrome definition: Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe mental deficiency, growth retardation, multiple abnormalities and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome or cri du chat syndrome), that disappears within weeks or months after birth.
Cri du Chat Syndrome definition: A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.
Schwartz-Jampel syndrome (SJS) definition: A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.
Syndrome definition: A symptom complex of unknown etiology, that is characteristic of a particular abnormality.
syndrome definition: heading term for a set of symptoms, usually three or more, which have a complex etiology and characterize a particular pathological state.
syndrome definition: (SIN-drome) A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.
Aarskog syndrome definition: Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.
Greig Syndrome definition: An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism.
chromosome 7q deletion syndrome definition: Deletion of the long arm of chromosome 7 with delayed mental and physical development and multiple anomalies involving the craniofacial structures, eyes, extremities (mainly split hand/split foot abnormality), and other parts.
chromosome 9p duplication syndrome definition: Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism.
chromosome 13q deletion syndrome definition: Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. Deletions limited to proximal bands (q13-q31) are marked mainly by growth retardation but no major deformities, those involving band 32q are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features.
chromosome XXXXX syndrome definition: Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.
chromosome XXXXY syndrome definition: A sex chromosome aneuploidy with an incidence of 1 in 85,000 male births. Principal findings include radioulnar synostosis, hypogonadism, mental retardation, and speech disorders. Associated disorders ara variable and may include characteristic facies, multiple skeletal abnormalities, and cardiac and genital malformations. Many features are similar to those seen in the Klinefelter syndrome (chromosome XXY syndrome), hence the synonym Klinefelter variant.
chromosome triploidy syndrome definition: A frequently lethal ploidy syndrome in which three haploid sets of chromosomes (69,XXX or 69,XXY)) are present. The liveborn infants (some of whom die in infancy) are severely retarded and exhibit craniofacial abnormalities, facial clefts, eye defects, syndactyly, genital maldevelopment in males, and other anomalies.
chromosome 18p deletion syndrome definition: Deletion of the short arm of chromosome 18. It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years. The phenotype is marked mainly by holoprosencephaly, brachycephaly, broad facies, blepharoptosis, downturned corners of the mouth, tooth abnormalities, broad neck with low posterior hairline, funnel chest, enlarged labia majora, hand abnormalities, mental retardation ranging from mild to severe, and other malformations. The phenotype varies from case to case, frequently reflecting the length and type of deletion: del(18p) mosaicism is associated with abnormalities which are similar to those in del(18p) and include microphthalmia and cataract and cyclopia may occur in del(18p) in mosaicism with dup(18p).
chromosome 18q deletion syndrome definition: Deletion of the long arm of chromosome 18 with a phenotype that may vary considerably, depending on the type of deletion and location of the breakpoint. The syndrome is marked mainly by mental retardation, midface hypoplasia, deeply set eyes, carp mouth, mild obesity, ataxia, hypotonia, malformed ears, and hyperactive and aggressive behavior. Neoplastic diseases may occur.
chromosome 5q deletion syndrome definition: Deletion of the long arm of chromosome 5 with mental retardation and multiple abnormalities, usually frontal bossing, anteverted nostrils, brachycephaly, epicanthal folds, long deep philtrum, microretrognathia, and short neck. Additional defects are variable and may include hypertelorism, blepharophimosis, ear deformities, cleft palate, and other anomalies.
Myelodysplastic Syndrome Associated with Isolated del (5q) Chromosome Abnormality definition: 5Q minus syndrome. A rare disorder caused by loss of part of the long arm (Q arm) of human chromosome 5. This syndrome affects myeloid (bone marrow) cells, causing treatment-resistant anemia, and myelodysplastic syndromes that may lead to acute myelogenous leukemia.
Myelodysplastic Syndrome Associated with Isolated del (5q) Chromosome Abnormality definition: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with normal to increased, often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)
chromosome 1p deletion syndrome definition: Deletion of the short arm of chromosome 1. Common symptoms include mental deficiency, malformed ears, short neck, bulbous nose, heart defects, finger abnormalities, and small deeply set eyes but the phenotype varies with the breakpoint.
chromosome 1p duplication syndrome definition: Duplication of the long arm of chromosome 1 with growth and mental deficiency, microcephaly, highly arched cleft palate, facial abnormalities, and brachydactyly.
chromosome 1q deletion syndrome definition: Deletion of the long arm of chromosome 1 characterized by multiple anomalies and neurological signs, including psychomotor and developmental delay, hypotonia, seizures, characteristic facies, congenital heart diseases, osseous defects, and genital anomalies.
chromosome 1q duplication syndrome definition: Duplication of the long arm of chromosome 1 associated with a variable phenotype, including psychomotor retardation, craniofacial malformations, and various limb, heart, and urogenital anomalies.
chromosome 2p deletion syndrome definition: Deletion of the short arm of chromosome 2 with growth and development delay, dysmorphic facies (mainly a prominent nose and abnormal ears), and hand abnormalities.
chromosome 2p duplication syndrome definition: Duplication of the short arm of chromosome 2 with psychomotor retardation, characteristic facies (prominent forehead, frontal upsweep of hair, hypertelorism, micrognathia, and nose and ear malformations), narrow palate, dolichostenomelia, finger and toe abnormalities, and genital anomalies. Less frequently occurring abnormalities include neural tube defects anencephaly, encephalocele, and spina bifida), bronchial and pulmonary hypoplasia, diaphragmatic hernia, neuroblastoma, a genital anomalies, and congenital heart defects.
chromosome 2q deletion syndrome definition: Deletion of the long arm of chromosome 2 with a highly variable phenotype marked mainly by low birth weight, delayed somatic and mental development, craniofacial defects (relative small facial features with eye, ear, and nose abnormalities), short neck, finger deformities, heart and lung congenital defects, and other anomalies.
chromosome 2q duplication syndrome definition: Duplication of the long arm of chromosome 2 with psychomotor retardation and multiple anomalies consisting of unusual facial appearance, clinodactyly, short neck, short toenails, congenital heart defects, anomalies of the genitourinary system, and other abnormalities.
chromosome 3p deletion syndrome definition: Deletion of the short arm of chromosome 3 with variable anomalies which include growth failure, psychomotor retardation, craniofacial deformities with unusual facies, postaxial polydactyly, musculoskeletal defects, and other malformations.
chromosome 3p duplication syndrome definition: Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations.
chromosome 3q deletion syndrome definition: Deletion of the long arm of chromosome 3 with a variable phenotype consisting mainly of microcephaly, unusual facial appearance, eye abnormalities, deformed ears, and delay in growth and development. Partial deletion of the long arm of chromosome 3 is also involved in the blepharophimosis-ptosis-epicanthus inversus syndrome.
chromosome 3q duplication syndrome definition: Duplication of the long arm of chromosome 3 with psychomotor retardation, characteristic facies, congenital heart anomalies, abnormal dermatoglyphic patterns, skeletal defects, and other abnormalities. The syndrome was first reported as familial de Lange syndrome (1) with chromosomal abnormalities. Manifestations of dup(3q) are similar to those in de Lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, whereas craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q).
chromosome 4q deletion syndrome definition: Deletion of the long arm of chromosome 4 with a variable phenotype consisting mainly of delayed psychomotor development, craniofacial anomalies, cardiovascular defects, skeletal abnormalities, occasional cleft palate, micrognathia, and glossoptosis (Pierre Robin sequence) and other disorders. Rieger anomaly (malformations of the anterior chamber of the eye and the teeth) occurs in some cases.
chromosome 4q duplication syndrome definition: Duplication of the long arm of chromosome 4 with delayed development, craniofacial abnormalities, limb defects, and variable neurological, ophthalmological, urogenital and other anomalies.
chromosome 6p deletion syndrome definition: Deletion of the short arm of chromosome 6 with variable abnormalities, including mental retardation, microcephaly, abnormal cranial sutures, broad nasal bridge, ear and eye anomalies, short neck, pectus excavatum, Poland anomaly (absence of the pectoralis major muscle of its sternal portion associated with ipsilateral shortening of the phalanges with syndactyly), deafness, congenital heart defects, and highly arched palate.
chromosome 6q deletion syndrome definition: Deletion of the long arm of chromosome 6 with delayed mental development and variable multiple abnormalities, mainly microcephaly, orofacial anomalies, short neck, cardiovascular defects, abnormal dermatoglyphics, hand deformities, and other defects.
chromosome 6q duplication syndrome definition: Duplication of the long arm of chromosome 6 with intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion contractures of the wrists, hypertonia, and retarded mental development.
chromosome 7p deletion syndrome definition: Deletion of the short arm of chromosome 7 with a phenotype consisting mainly of craniofacial abnormalities (flattened occiput, prominent forehead, craniosynostosis, microcephaly, malformed ears, eye and palpebral anomalies), congenital heart disease, genital malformations, hand abnormalities, and mild to severe mental retardation. The phenotype and severity of symptoms vary in relation to the length of deletion.
chromosome 7p duplication syndrome definition: Duplication of the short arm of chromosome 7. Clinical manifestations vary with the size of duplication and the involvement of additional chromosomes and usually include mental retardation, dolichocephaly, micrognathia, upslanting palpebral fissures, low-set malformed ears, abnormal dermatoglyphics, and other anomalies.
chromosome 7q duplication syndrome definition: Duplication of the long arm of chromosome 7 with multiple abnormalities and delayed mental and physical development. Infants with dup(7)(q31-7qter) have large fontanels, prominent forehead, short downslanting palpebral fissures, long philtrum, thin vermilion border, downcurved upper lip, and micrognathia; those with dup(7)(q32-7qter) also have hypotonia, epicanthal folds, scoliosis, hip dislocation, and strabismus; and patients with inv dup(7)(q21.2-q36) have hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, and short neck. The phenotype varies with the size of the duplicated segment. Duplication of large segments usually results in early mortality.
chromosome 8p deletion syndrome definition: Deletion of the short arm of chromosome 8 postnatal growth retardation, microcephaly, subnormal mentality, epicanthal folds, malformed ears, brevicollis, widely spread nipples, heart defects, and other abnormalities. Congenital spherocytic anemia may occur.
chromosome 8p duplication syndrome definition: Duplication of the short arm of chromosome 8, either de novo or resulting from parental translocation, associated with craniofacial defects (high forehead, frontal or parietal bossing, carp mouth, full cheeks, and round face), brevicollis with redundant skin folds, mental retardation, and other abnormalities. Phenotypic expression is related to the length of the duplicated segment.
chromosome 8q deletion syndrome definition: Deletion of the long arm of chromosome 8 with craniofacial abnormalities (microcephaly, midfacial hypoplasia, and prominent forehead), psychomotor retardation, and various eye, nose, ear, heart, and skeletal abnormalities. The phenotype and severity of symptoms vary with the type of deletion. Interstitial deletions 8q may be associated with several syndromes, including the tricho-rhino-phalangeal syndromes I and II (Langer-Giedion syndrome).
chromosome 8q duplication syndrome definition: Duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, mental deficiency, prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips, and skeletal defects. The phenotype varies in relation to the type of duplication.
chromosome 9p deletion syndrome definition: Partial deletion of the short arm of chromosome 9 with mental retardation, craniofacial anomalies, abnormal dermatoglyphics, short and webbed neck, heart murmurs, square nails, and other defects.
chromosome 9q deletion syndrome definition: Deletion of the long arm of chromosome 9. It is a rare chromosomal aberration with a variable phenotype. Common manifestations include hypotonia, growth and mental retardation, and down-slanting or oblique palpebral fissures. Additional anomalies may include arhinencephaly, malformed ears, atrial or ventricular septal defects, and lung hypoplasia.
chromosome 9q duplication syndrome definition: Duplication of the long arm of chromosome 9 with psychomotor retardation, deeply-set eyes, microdolichocephaly, beaked nose, and microretrognathia. Depending on the length of the deleted segment, additional features may include small mouth, large ears, finger abnormalities, limited joint movement, failure to thrive, congenital heart defects, and other anomalies. Longer deletions are more likely to develop life-threatening malformations shorter ones. 9q34 is sometimes considered as a separate entity which is characterized by slight psychomotor retardation, limited speech capacity, hyperactivity, feeding difficulty, failure to thrive, joint contractures, finger abnormalities, erythema, heart murmur, blepharoptosis, strabismus, dolichocephaly, facial asymmetry, narrow palpebral fissures, microphthalmia, and downturned corners of the mouth.
chromosome 10p deletion syndrome definition: Deletion of the short arm of chromosome 10 with retarded psychomotor development and variable abnormalities, including dwarfism, craniofacial dysmorphism (downslanting palpebral fissures, anteverted nostrils, and eye and ear anomalies), deformed hands and feet, cryptorchidism, and dysplasia of the olfactory system.
chromosome 10p duplication syndrome definition: Duplication of the short arm of chromosome 10 with a variable phenotype depending on the size of the trisomic segment. Growth and mental retardation, craniofacial dysmorphism, and ocular, cardiovascular, skeletal, and other abnormalities are associated.
chromosome 10q deletion syndrome definition: Deletion of the long arm of chromosome 10 with delayed physical and mental development and relatively nonspecific variable abnormalities. The phenotype varies in relation to the type of deletion. The most frequent abnormalities which are common to all types include microcephaly, congenital heart defects, and hypotonia. Terminal deletion is usually characterized by anoxia and respiratory distress at birth, frequent prematurity, malformed ears, prominent nose, hypertelorism, strabismus, and short or webbed neck. Patients with ring chromosome 10 usually have hydronephrosis, bladder obstruction, cryptorchidism, and hypoplastic scrotum.
chromosome 10q duplication syndrome definition: Duplication of the long arm of chromosome 10 with cardiac, renal, and respiratory complications, orofacial dysmorphism, and psychomotor retardation which vary with different karyotypes.
Jacobsen Distal 11q Deletion Syndrome definition: A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.
Jacobsen Syndrome definition: A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.
chromosome 11q deletion syndrome definition: Deletion of the long arm of chromosome 11 with retarded growth and psychomotor development, trigonocephaly, strabismus, short and broad nose with anteverted nostrils, epicanthus, telecanthus, malformed ears, "carp mouth", camptodactyly, and thrombocytopenia.
chromosome 11q duplication syndrome definition: Duplication of the long arm of chromosome 11 with delayed growth and mental development, craniofacial asymmetry, microcephaly, dysmorphic facies, strabismus, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Some patients exhibits symptoms of cri-du-chat or chromosome 5p deletion syndrome (a peculiar crying sound resembling that of a suffering kitten observed in infants with craniofacial abnormalities that include microcephaly, round facies, hypertelorism, upslanting palpebral fissures, epicanthus, large frontal sinus, and other anomalies). The phenotype is variable and is related to the size of duplication. Mental retardation ranges from moderate to severe.
chromosome 12p deletion syndrome definition: Deletion of the short arm of chromosome 12. The syndrome is relatively rare and has a variable phenotype, consisting of growth and mental retardation and various craniofacial, neurological, and other abnormalities.
chromosome 12p duplication syndrome definition: Duplication of the short arm of chromosome 12 with multiple congenital abnormalities consisting of characteristic facies, increased birth weight, severe psychomotor retardation, and occasional postpartum asphyxia. Additional findings may include turricephaly, high forehead, everted lower lip, ear abnormalities, foot deformities, accessory nipples and, less frequently, congenital heart defects, anal atresia, and other anomalies.
chromosome 12q duplication syndrome definition: Duplication of the long arm of chromosome 12 with craniofacial, skeletal, and cardiovascular abnormalities, sacral dimple, simian creases, and psychomotor retardation.
chromosome 13q duplication syndrome definition: Duplication of the long arm of chromosome 13 with retarded development and craniofacial, neurological, and other abnormalities.
chromosome 14q deletion syndrome definition: Deletion of the long arm of chromosome. Short stature, intellectual impairment, and dysmorphic facies are the most common clinical characteristics.
chromosome 14q duplication syndrome definition: Duplication of the long arm of chromosome 14 with delayed motor and mental development, craniofacial dysmorphism, failure to thrive, and hand and foot, cardiovascular, genitourinary, and other defects.
chromosome 15q deletion syndrome definition: Deletion of the long arm of chromosome 15 usually associated with variable phenotype. Microcephaly, beaked nose, microcorneae, talipes equinovarus, hypoplastic labia majora, and growth and mental retardation are the the major symptoms. Deletion was also reported in Prader-Willi syndrome with hyperlipidemia and insulin-dependent with retinal and renal complications.
chromosome 15q duplication syndrome definition: Duplication of the long arm of chromosome 15. Some cases have symptoms which are similar to those in Prader-Willi and Angelman syndromes but most exhibit a wide spectrum of manifestations which range from asymptomatic cases to variable combinations of skeletal, neurological, gastrointestinal, psychological, and other abnormalities in association with developmental delay. Phenotypic expression and degree of severe are related to the length of the duplicated segment.
chromosome 16p duplication syndrome definition: Duplication of the short arm of chromosome 16 with severe psychomotor delay, rounded face, sparse hair, malformed ears, hypertelorism, cleft palate, a thin upper lip, and renal dysgenesis. The severity of expression varies with the type of duplication. Spontaneous abortion usually takes place in severe cases and about 50% die in infancy.
chromosome 16q deletion syndrome definition: Deletion of the long arm of chromosome 16 characterized mainly by developmental delay, craniofacial anomalies, feeding difficulties, failure to thrive, hypotonia, and other disorders. The phenotype varies with the breakpoints.
Smith-Magenis Syndrome definition: A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
chromosome 17p deletion syndrome definition: Deletion of the short arm of chromosome 17. As initially reported, the syndrome consisted mainly of cleft palate and congenital heart defect. The phenotype was later expanded to include brachycephaly, midfacial hypoplasia, broad nasal bridge, highly arched palate, mandibular prognathism, malformed ears, short hands, mental retardation, and other less constant abnormalities.
Smith Magenis syndrome definition: a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior.
chromosome 17p duplication syndrome definition: Duplication of the short arm of chromosome 17 with delayed psychomotor development, craniofacial abnormalities (narrow downslanting palpebral fissures, microcephaly, hypertelorism, and malformed ears), digital anomalies, and other congenital defects. Expression varies with the karyotype.
chromosome 17q deletion syndrome definition: Deletion of the long arm of chromosome 17 with multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb, and other abnormalities. The syndrome is rare and is frequently lethal. Deletion of the long arm of chromosome 17 was reported in Hunter syndrome.
chromosome 17q duplication syndrome definition: Duplication of the long arm of chromosome 17. involving different bands of the distal portion, with a relatively constant phenotypic expression which consists mainly of psychomotor retardation, characteristic asymmetric facies, limb deformities, congenital heart anomaly, and other defects.
chromosome 19p duplication syndrome definition: Duplication of the short arm of chromosome 19 with club feet, kidney abnormalities, hearing deficit, developmental delay, and multiple dysmorphic features.
chromosome 19q duplication syndrome definition: Duplication of the long arm of chromosome 19 with psychomotor retardation, microbrachycephaly, open cranial sutures, downslanting palpebral fissures, blepharoptosis, hypertelorism, downturned corners of the mouth, and short nose. The severity of symptoms is related to the length of the duplicated segment.
chromosome 20p deletion syndrome definition: Deletion of the short arm of chromosome 20 with facial dysmorphism, cardiovascular abnormalities, growth and motor retardation, and recurrent respiratory infections. Deletion has been implicated in Hirschsprung syndrome (megacolon due to agangliosis) and autism.
chromosome 20q duplication syndrome definition: Duplication of the long arm of chromosome 20. The phenotype usually consists of brachycephaly, epicanthus, anteverted nostrils, short neck, vertical chin dimple, and congenital heart defect or murmur. Delayed development growth, speech, motor, and social interactions in some cases.
chromosome 21q deletion syndrome definition: Deletion of the long arm of chromosome 21 with mental retardation and multiple craniofacial, skeletal, and other anomalies. The phenotype shares common characteristics with the monosomy 21 syndrome.
chromosome 22q deletion syndrome definition: Deletion of the long arm of chromosome 22 with variable dysmorphic features consisting of a round face, almond-shaped palpebral fissures, bulbous nose, malformed ears, hypotonia, short stature, mental retardation, and other anomalies. Deletion of the proximal long arm of chromosome 22 (22q11) has been associated with familial DiGeorge and velocardiofacial syndromes and terminal deletion was found in Goldenhar syndrome. Abnormalities of chromosome 22 are also suspected of being involved in the etiology of neoplastic diseases.
chromosome 22q duplication syndrome definition: Duplication of the long arm of chromosome 22. Clinical characteristics vary with the karyotype and may include craniofacial, ocular, and genital abnormalities and developmental delay.
chromosome tetraploidy syndrome definition: A frequently lethal ploidy syndrome marked by the presence of four sets of chromosomes (92,XXYY or 92,XXXX) usually resulting in spontaneous abortions. Infants who survive usually exhibit mental retardation and multiple craniofacial, limb, cardiovascular, renal, and other variable malformations.
Johnson-McMillin syndrome definition: A syndrome with variable expressivity characterized by alopecia with mild facial asymmetry and micrognathia which give the face its characteristic features, ear abnormalities with hearing loss, loss of the sense of smell, hypogonadism, dental caries, and occasional mental deficiency.
Acrocallosal Syndrome definition: A condition caused by autosomal recessive gene mutations leading to hypogenesis or absence (agenesis) or of CORPUS CALLOSUM, the band of nerve fibers joining the two CEREBRAL HEMISPHERES. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Schinzel syndrome 1 definition: Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly.
acrorenal syndrome definition: Malformations of the kidneys (renal aplasia or dysplasia) and limbs (mainly split hand and foot and digital abnormalities) with variable defects of other organs, short stature, and intellectual impairment.
chromosome 18q duplication syndrome definition: Duplication of the long arm of chromosome 18 with variable abnormalities, including intra-uterine growth retardation; characteristic facies with malformed ears, micrognathia, and prominent occiput; heart malformations; and psychomotor retardation.
chromosome 11p deletion syndrome definition: Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA;
chromosome 5p duplication syndrome definition: Duplication of the short arm of chromosome 5 most frequently associated with craniofacial, cardiac, renal, and limb abnormalities, and moderate to severe mental retardation. Dandy-Walker malformation (agenesis of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle) occurs in some cases. The phenotype is related to the amount of genetic material duplicated and the specific duplicated segment.
Acro-Osteolysis definition: A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Anemia, Diamond-Blackfan definition: A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
chromosome 5q duplication syndrome definition: Duplication of the long arm of chromosome 5 with a variable clinical picture consisting of psychomotor retardation and craniofacial, cardiovascular, musculoskeletal, and other anomalies.
Wolf-Hirschhorn Syndrome definition: A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
chromosome 4p deletion syndrome definition: Partial deletion of the short arm of chromosome 4 with severe psychomotor deficiency and abnormalities of the craniofacial structures, heart, kidneys, and other organs. The most common defects include asymmetric skull, microcephaly, high forehead, beaked nose, hypertelorism, epicanthal folds, and prominent glabella. The phenotype of proximal interstitial deletion (del4p15) differs from that in the Wolf-Hirschhorn syndrome and is characterized by distinct facies, multiple minor congenital anomalies, psychomotor retardation and normal growth. Deletion 4p15-16 is expressed in a different phenotype which includes long face, midface hypoplasia, upslanted palpebral fissures, epicanthal folds, large beaked nose, highly arched palate, thick lower lip, micrognathia, broad and short neck, broad hands and feet, tall and thin habitus, delayed growth and mental development, and hypotonia.
Wolf-Hirschhorn Syndrome definition: A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations.
syndrome definition: '''Syndrome'''.
 
 
frFrench
maladie definition: Condition anormale du corps ou de l’esprit d’un être humain qui cause de l’inconfort ou du dysfonctionnement. Problème de santé chez un être vivant qui se traduit par une baisse des capacités physiques, de la fatigue (animaux) ou plus généralement par un dysfonctionnement, une altération, du métabolisme.
maladie definition: Affection excessive pour quelque chose, manie.
syndrome definition: Ensemble de symptômes caractéristiques d’une pathologie ou d’une affection.
syndrome definition: Pathologie (souvent d’origine chromosomique) présentant ces symptômes.
syndrome definition: Ensemble de comportements particuliers à un groupe humain ayant subi une même situation traumatisante.