Concept information
Preferred term
Multiple system malformation syndrome
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 14q11.2 microduplication syndrome (disorder)
- 16p12.2 microdeletion
- 16p13.11 microdeletion syndrome (disorder)
- 17q12 microdeletion syndrome
- 17q23.1q23.2 microdeletion syndrome (disorder)
- 19p13.3 microduplication syndrome (disorder)
- 1p31p32 microdeletion syndrome
- 1q21.1 microduplication syndrome (disorder)
- 1q41q42 microdeletion syndrome (disorder)
- 1q44 microdeletion syndrome (disorder)
- 20p12.3 microdeletion syndrome (disorder)
- 20p13 microdeletion syndrome
- 20p partial trisomy syndrome
- 20q11.2 microduplication syndrome
- 20q13.33 microdeletion syndrome (disorder)
- 2p21 microdeletion syndrome (disorder)
- 2p21 microdeletion syndrome without cystinuria (disorder)
- 2q23.1 microdeletion syndrome (disorder)
- 2q31.1 microdeletion syndrome (disorder)
- 2q32q33 microdeletion syndrome (disorder)
- 2q33.1 microdeletion syndrome (disorder)
- 3q13 microdeletion syndrome (disorder)
- 3q29 microdeletion syndrome (disorder)
- 46,XX disorder of sex development with anorectal anomalies syndrome (disorder)
- 46,XX disorder of sex development with skeletal anomalies syndrome (disorder)
- 48,XYYY syndrome (disorder)
- 49,XXXYY syndrome
- 49,XYYYY syndrome (disorder)
- 5q14.3 microdeletion syndrome (disorder)
- 5q35 microduplication syndrome (disorder)
- 6p22 microdeletion syndrome (disorder)
- 7p22.1 microduplication syndrome (disorder)
- Abruzzo Erickson syndrome
- Ackerman syndrome (disorder)
- Acrodysplasia scoliosis (disorder)
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
- Agenesis of corpus callosum and abnormal genitalia syndrome
- Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
- Aniridia, renal agenesis, psychomotor retardation syndrome
- Anonychia with microcephaly syndrome (disorder)
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)
- Anophthalmia with pulmonary hypoplasia syndrome
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)
- Aplasia cutis with myopia syndrome (disorder)
- Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)
- Ataxia, photosensitivity, short stature syndrome
- Atypical Norrie disease due to monosomy Xp11.3 (disorder)
- Aughton Hufnagle syndrome
- Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)
- Auricular abnormality, cleft lip, ocular abnormality syndrome
- Bamforth Lazarus syndrome (disorder)
- Biemond's syndrome
- Biemond syndrome type 2 (disorder)
- Bilateral microtia with deafness and cleft palate syndrome (disorder)
- Bindewald Ulmer Muller syndrome
- Bosley Salih Alorainy syndrome (disorder)
- Braddock syndrome (disorder)
- Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)
- Brain calcification Rajab type (disorder)
- Branchiogenic deafness syndrome (disorder)
- Branchio-otic syndrome
- Calderón González Cantu syndrome
- Cardiocranial syndrome Pfeiffer type (disorder)
- CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
- Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)
- Char Douglas Dungan syndrome
- CHARGE association
- Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
- Chondrodysplasia with disorder of sex development syndrome (disorder)
- Choroideremia with deafness and obesity syndrome (disorder)
- Chromosome 22q11.2 microduplication syndrome
- Chromosome Xp22.3 microdeletion syndrome (disorder)
- Chromosome Xq27.3q28 duplication syndrome (disorder)
- Chudley Rozdilsky syndrome
- CK syndrome
- Cleft palate with stapes fixation and oligodontia syndrome (disorder)
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
- Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
- Congenital cataract with deafness and hypogonadism syndrome (disorder)
- Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)
- Congenital deafness with inner ear agenesis, microtia, and microdontia
- Congenital intrauterine infection-like syndrome (disorder)
- Congenital myopathy, cleft palate. malignant hyperthermia syndrome
- Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)
- Coxoauricular syndrome (disorder)
- Craniofacial ulnar renal syndrome (disorder)
- Cross syndrome
- Deaf blind hypopigmentation syndrome Yemenite type (disorder)
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)
- Deafness, vitiligo, achalasia syndrome
- Deletion 22
- Developmental malformation, deafness, dystonia syndrome (disorder)
- Diaphanospondylodysostosis (disorder)
- Didymosis aplasticosebacea (disorder)
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
- Disorder of sex development with intellectual disability syndrome (disorder)
- Distal 22q11.2 microdeletion syndrome (disorder)
- Distal duplication 1p36
- Distal duplication 22q
- Distal duplication 5q
- Distal monosomy 10q (disorder)
- Distal trisomy 22q11.2
- Dobrow syndrome (disorder)
- Double uterus, hemivagina, renal agenesis syndrome (disorder)
- Duane anomaly, myopathy, scoliosis syndrome (disorder)
- Dyschondrosteosis and nephritis syndrome (disorder)
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
- Familial caudal dysgenesis (disorder)
- FLOTCH syndrome
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
- Galloway Mowat syndrome (disorder)
- Genitopalatocardiac syndrome
- Genitopatellar syndrome
- Gillespie syndrome
- Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)
- Goldenhar syndrome
- Haim Munk syndrome (disorder)
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
- Holzgreve Wagner Rehder syndrome
- Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
- Hydrocephalus, blue sclera, nephropathy syndrome
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)
- Hydrocephalus, tall stature, joint laxity syndrome (disorder)
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)
- Imperforate oropharynx, costovertebral anomalies syndrome (disorder)
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)
- Intellectual disability, hypotonia, facial dysmorphism syndrome
- Jackson Barr syndrome
- Johnson McMillin syndrome
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome
- Kreiborg Pakistani syndrome
- Lambert syndrome
- Ligase 4 syndrome (disorder)
- Lipodystrophy, intellectual disability, deafness syndrome (disorder)
- Lowe Kohn Cohen syndrome
- Lowry MacLean syndrome (disorder)
- Lymphedema hypoparathyroidism syndrome (disorder)
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)
- Male emopamil-binding protein disorder with neurological defect
- Manitoba oculotrichoanal syndrome
- Marfanoid syndrome De Silva type (disorder)
- McCune Albright syndrome (disorder)
- Meacham syndrome (disorder)
- Meckel syndrome type 7
- Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
- Megalocornea with intellectual disability syndrome
- Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder)
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
- Microcephalic primordial dwarfism of Toriello type (disorder)
- Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)
- Microcephalus, lymphedema, chorioretinopathy syndrome
- Microcephalus microcornea syndrome of Seemanova type (disorder)
- Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)
- Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
- Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
- Microduplication Xp11.22p11.23 syndrome (disorder)
- Microphthalmia, cataract, radiculomegaly and septal heart defect
- Monosomy 3q26q27
- Mosaic trisomy 14 syndrome (disorder)
- Mosaic trisomy 16 syndrome
- Mosaic trisomy 17 syndrome (disorder)
- Mosaic trisomy 22 syndrome
- Mosaic trisomy 3 syndrome
- Mosaic trisomy 8 syndrome (disorder)
- Mosaic trisomy chromosome 12
- Mosaic trisomy chromosome 20
- Multiple malformation syndrome with early overgrowth
- Multiple malformation syndrome with facial defects as major feature
- Muscle eye brain disease with bilateral multicystic leucodystrophy
- Nasopalpebral lipoma coloboma syndrome (disorder)
- Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
- Neuroectodermal melanolysosomal disease (disorder)
- Non-distal deletion 12q
- Oculoauricular syndrome Schorderet type
- Oculopalatocerebral syndrome (disorder)
- Odontoma dysphagia syndrome (disorder)
- Onat syndrome
- Osteosclerosis, ichthyosis, premature ovarian failure syndrome
- Pachygyria, intellectual disability, epilepsy syndrome (disorder)
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome (disorder)
- Patterson syndrome
- Pericardial and diaphragmatic defect syndrome (disorder)
- Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
- Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)
- Pili torti with developmental delay and neurological abnormality syndrome (disorder)
- Polysyndactyly and cardiac malformation syndrome (disorder)
- Pontine tegmental cap dysplasia
- Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)
- Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
- Prader-Willi syndrome
- Proximal 11p deletion syndrome
- Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
- RAB18, member RAS oncogene family deficiency
- Renal hepatic pancreatic dysplasia (disorder)
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)
- Richieri Costa-da Silva syndrome
- Ring chromosome 12
- Ring chromosome 13 syndrome (disorder)
- Ring chromosome 15 syndrome
- Ring chromosome 16 syndrome
- Ring chromosome 17 syndrome (disorder)
- Ring chromosome 19 syndrome
- Ring chromosome 2 syndrome (disorder)
- Ring chromosome 3 syndrome (disorder)
- Ring chromosome 5 syndrome
- Ring chromosome 6 syndrome (disorder)
- Ring chromosome 7 syndrome (disorder)
- Ring chromosome 8 syndrome (disorder)
- Ring chromosome Y syndrome (disorder)
- Russell Weaver Bull syndrome
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
- Scalp defect postaxial polydactyly syndrome (disorder)
- SCALP syndrome
- Schwartz-Jampel syndrome
- Sengers Hamel Otten syndrome
- Septo-optic dysplasia sequence
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
- Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)
- Short stature, wormian bones, dextrocardia syndrome
- Siegler Brewer Carey syndrome (disorder)
- Spigelian hernia with cryptorchidism syndrome (disorder)
- Spina bifida and hypospadias syndrome (disorder)
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)
- Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)
- Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)
- Taurodontia with absent teeth and sparse hair syndrome (disorder)
- Tetraamelia with multiple malformation syndrome (disorder)
- Tetrasomy 21 (disorder)
- Tetrasomy 5p
- Thoraco-abdominal enteric duplication (disorder)
- Thymic, renal, anal, lung dysplasia syndrome (disorder)
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
- Trigonocephaly C syndrome (disorder)
- Trigonocephaly, short stature, developmental delay syndrome (disorder)
- Trisomy 15 mosaicism
- Trisomy 1 mosaicism
- Trisomy 1q syndrome (disorder)
- Trisomy 2 mosaicism
- Trisomy 5 mosaicism
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
- Van den Bosch syndrome (disorder)
- VATER association
- Velocardiofacial syndrome
- Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)
- Vici syndrome (disorder)
- Waardenburg's syndrome
- Winship Viljoen Leary syndrome
- X-linked cerebral, cerebellar, coloboma syndrome (disorder)
- X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome
- X-linked intellectual disability Cabezas type (disorder)
- X-linked intellectual disability, craniofacioskeletal syndrome
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
- X-linked intellectual disability Stocco Dos Santos type (disorder)
- Xq12-q13.3 duplication syndrome (disorder)
- XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
- Zori Stalker Williams syndrome
Associated morphology
Occurrence
Pathological process
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/82354003
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