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Abnormalities, Multiple

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Definition:   IM; do not use /compl /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific abnorm (IM); Manual 23.20.2   
See Also Intellectual Disability
Examples 22q11 Deletion Syndrome; Alagille Syndrome; Alstrom Syndrome; Angelman Syndrome; Bardet-Biedl Syndrome; Barth Syndrome; Basal Cell Nevus Syndrome; Beckwith-Wiedemann Syndrome; Bloom Syndrome; Branchio-Oto-Renal Syndrome; Carney Complex; CHARGE Syndrome; Cockayne Syndrome; Costello Syndrome; Cri-du-Chat Syndrome; De Lange Syndrome; Deaf-Blind Disorders; Donohue Syndrome; Down Syndrome; Ectodermal Dysplasia; Fraser Syndrome; Gardner Syndrome; Heterotaxy Syndrome; Holoprosencephaly; Incontinentia Pigmenti; Isolated Noncompaction of the Ventricular Myocardium; Laurence-Moon Syndrome; LEOPARD Syndrome; Loeys-Dietz Syndrome; Marfan Syndrome; Mobius Syndrome; Monilethrix; Nail-Patella Syndrome; Netherton Syndrome; Nevus, Sebaceous of Jadassohn; Oculocerebrorenal Syndrome; Orofaciodigital Syndromes; Pallister-Hall Syndrome; Pentalogy of Cantrell; POEMS Syndrome; Prader-Willi Syndrome; Prolidase Deficiency; Proteus Syndrome; Prune Belly Syndrome; Rubella Syndrome, Congenital; Rubinstein-Taybi Syndrome; Short Rib-Polydactyly Syndrome; Silver-Russell Syndrome; Smith-Lemli-Opitz Syndrome; Smith-Magenis Syndrome; Sotos Syndrome; Trichothiodystrophy Syndromes; Waardenburg's Syndrome; Weill-Marchesani Syndrome; Wolf-Hirschhorn Syndrome; Wolfram Syndrome; Zellweger Syndrome
Other names Multiple Abnormalities
 
SubstanceCAS Registry & nameCategoriesSource
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features  0   *Abnormalities, Multiple *Macular Degeneration *Agenesis of Corpus Callosum.
Megarbane Jalkh Syndrome  0   *Abnormalities, Multiple. Am. J. Med. Genet. 146A: 3198-3201
Powell Chandra Saal syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius/abnormalities Vertebrates/abnormalities.
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia  0   *Abnormalities, Multiple *Dandy-Walker Syndrome *Hernia, Diaphragmatic *Nasopharyngeal Neoplasms *Teratoma.
Nasopalpebral lipoma coloboma syndrome  0   *Abnormalities, Multiple *Coloboma *Eyelid Neoplasms *Lipoma.
Ho Kaufman Mcalister syndrome  0   *Abnormalities, Drug-Induced *Abnormalities, Multiple/chemically induced *Bone Diseases *Cleft Palate *Heart Defects, Congenital *Hip Dislocation, Congenital *Micrognathism. Am J Dis Child 129(6):714-6
Hittner Hirsch Kreh syndrome  0   *Abnormalities, Multiple *Coloboma *Hearing Loss, Sensorineural *Heart Defects, Congenital *Intellectual Disability *Microphthalmos Ear/abnormalities.
Preaxial deficiency, postaxial polydactyly and hypospadias  0   *Abnormalities, Multiple *Hypospadias *Polydactyly.
Aughton syndrome  0   *Abnormalities, Multiple *Cleft Palate *Dextrocardia *Intellectual Disability *Microphthalmos.
Adducted thumb and clubfoot syndrome  0   *Clubfoot *Abnormalities, Multiple Thumb/abnormalities.
Bowen syndrome  0   *Abnormalities, Multiple *Contracture *Glaucoma *Facies.
McPherson Clemens syndrome  0   *Abnormalities, Multiple *Cleft Lip *Cleft Palate *Heart Defects, Congenital *Facies *Intestinal Volvulus.
McKusick Kaufman syndrome  0   *Polydactyly *Abnormalities, Multiple *Heart Defects, Congenital *Uterine Diseases *Hydrocolpos.
McDonough syndrome  0   *Abnormalities, Multiple *Cryptorchidism *Heart Defects, Congenital *Kyphosis *Intellectual Disability *Facies Rectus Abdominis/abnormalities.
Lacrimoauriculodentodigital syndrome  0   *Syndactyly *Abnormalities, Multiple *Lacrimal Apparatus Diseases *Tooth Abnormalities *Hearing Loss.
Kyphomelic dysplasia  0   *Abnormalities, Multiple *Bone Diseases, Developmental.
Hersh Podruch Weisskopk syndrome  0   *Abnormalities, Multiple *Growth Disorders *Microcephaly.
Pallister W syndrome  0   *Abnormalities, Multiple *Intellectual Disability *Craniofacial Abnormalities.
Palant cleft palate syndrome  0   *Abnormalities, Multiple *Cleft Palate *Intellectual Disability *Limb Deformities, Congenital *Facies.
Char syndrome  0   *Abnormalities, Multiple *Ductus Arteriosus, Patent Face/abnormalities Fingers/abnormalities.
Cervical ribs sprengel anomaly anal atresia urethral obstruction  0   *Abnormalities, Multiple *Anus, Imperforate *Urethral Obstruction.
Fine-Lubinsky syndrome  0   *Abnormalities, Multiple *Cataract *Craniosynostoses *Deafness *Intellectual Disability.
Femur fibula ulna syndrome  0   *Abnormalities, Multiple Femur/abnormalities Fibula/abnormalities Ulna/abnormalities.
Femur bifid with monodactylous ectrodactyly  0   Femur/abnormalities Tibia/abnormalities *Abnormalities, Multiple.
Bamforth syndrome  0   *Abnormalities, Multiple *Cleft Palate *Hair Diseases *Hypothyroidism.
Pfeiffer Tietze Welte syndrome  0   *Abnormalities, Multiple *Craniosynostoses *Foot Deformities, Congenital *Hand Deformities, Congenital *Intellectual Disability. Eur J Pediatr 1987;146(1):74-5
Pfeiffer Palm Teller syndrome  0   *Facies *Abnormalities, Multiple *Dental Enamel Hypoplasia *Growth Disorders *Joint Diseases. J Pediatr. 1977;91(6):955-7
Pfeiffer Mayer syndrome  0   *Abnormalities, Multiple *Coloboma *Growth Disorders *Intellectual Disability *Polydactyly.
Pfeiffer Kapferer syndrome  0   *Abnormalities, Multiple *Growth Disorders *Hearing Loss, Sensorineural *Intellectual Disability.
Petty Laxova Wiedemann syndrome  0   *Abnormalities, Multiple *Growth Disorders *Progeria.
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities  0   *Abnormalities, Multiple Ear/abnormalities Semicircular Canals/abnormalities.
Lateral meningocele syndrome  0   *Abnormalities, Multiple *Meningocele.
Larsen syndrome, recessive type  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Dislocations/congenital *Musculoskeletal Abnormalities.
Larsen like syndrome, lethal type  0   *Abnormalities, Multiple *Dislocations/congenital *Thanatophoric Dysplasia.
Oculocerebral hypopigmentation syndrome type Preus  0   *Abnormalities, Multiple *Pigmentation Disorders *Craniofacial Abnormalities.
Novak syndrome  0   *Abnormalities, Multiple *Digestive System Diseases *Tracheal Diseases Larynx/abnormalities Trachea/abnormalities.
Macrosomia with lethal microphthalmia  0   *Abnormalities, Multiple *Cleft Palate *Fetal Macrosomia *Microphthalmos.
Axial mesodermal dysplasia spectrum  0   *Abnormalities, Multiple *Anus, Imperforate *Contracture *Goldenhar Syndrome Kidney/abnormalities Leg/abnormalities Sacrum/abnormalities.
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss  0   *Abnormalities, Multiple *Eye Abnormalities *Hearing Loss, Sensorineural *Heart Septal Defects, Atrial.
Renal hepatic pancreatic dysplasia Dandy Walker cyst  0   *Abnormalities, Multiple *Dandy-Walker Syndrome *Pancreatic Cyst.
Oculorenocerebellar syndrome  0   *Abnormalities, Multiple *Eye Abnormalities Cerebellum/abnormalities Kidney/abnormalities.
Lutz Richner Landolt syndrome  0   *Abnormalities, Multiple *Cholestasis *Jaundice *Renal Insufficiency.
Kabuki syndrome  0   *Abnormalities, Multiple *Hematologic Diseases *Vestibular Diseases Face/abnormalities.
Jung Wolff Back Stahl syndrome  0   *Abnormalities, Multiple *Hypothyroidism *Tracheal Stenosis Cerebellum Anterior Chamber/abnormalities.
Genee-Wiedemann syndrome  0   *Abnormalities, Multiple *Mandibulofacial Dysostosis *Micrognathism *Limb Deformities, Congenital.
GEMSS syndrome  0   *Abnormalities, Multiple *Ectopia Lentis *Glaucoma *Growth Disorders *Joint Diseases.
Krieble Bixler syndrome  0   *Abnormalities, Multiple *Blepharophimosis.
Krauss Herman Holmes syndrome  0   *Abnormalities, Multiple *Foot Deformities *Hypertelorism *Strabismus *Blepharophimosis.
Sharma Kapoor Ramji syndrome  0   *Abnormalities, Multiple *Fetal Growth Retardation Face/abnormalities Ribs/abnormalities.
Seow Najjar syndrome  0   *Abnormalities, Multiple *Cataract *Dental Enamel Hypoplasia Cerebral Aqueduct/abnormalities.
Michels Caskey syndrome  0   *Abnormalities, Multiple *Hand Deformities, Congenital *46, XX Disorders of Sex Development Mullerian Ducts/abnormalities.
Jequier Kozlowski skeletal dysplasia  0   *Abnormalities, Multiple *Arthrogryposis *Osteochondrodysplasias *Craniofacial Abnormalities.
Jarcho-Levin syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Hernia, Diaphragmatic.
Microdontia hypodontia short stature  0   *Abnormalities, Multiple *Anodontia *Growth Disorders.
Microcephaly seizures mental retardation heart disorders  0   *Abnormalities, Multiple *Heart Defects, Congenital *Intellectual Disability *Microcephaly *Seizures Bone and Bones/abnormalities.
Seemanova Lesny syndrome  0   *Abnormalities, Multiple *Cataract/congenital *Growth Disorders *Hypogonadism *Intellectual Disability *Microcephaly *Muscle Spasticity.
Seckel like syndrome type Buebel  0   *Abnormalities, Multiple *Dwarfism *Craniofacial Abnormalities. Am J Med Genet. 1996;64(3):447-52
Seaver Cassidy syndrome  0   *Abnormalities, Multiple *Hypertelorism *Craniofacial Abnormalities Joints/abnormalities Scrotum/abnormalities. Am J Med Genet. 1991; 41(4):405-9
Scott Bryant Graham syndrome  0   *Abnormalities, Multiple Skull/abnormalities *Intellectual Disability *Syndactyly.
Podder-Tolmie syndrome  0   *Abnormalities, Multiple *Arthrogryposis *Encephalocele Thumb/abnormalities.
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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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