Abnormalities (definition)

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ψ	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

Substance	Categories	Source
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features	Abnormalities, Multiple Macular Degeneration *Agenesis of Corpus Callosum.
Megarbane Jalkh Syndrome	*Abnormalities, Multiple.	Am. J. Med. Genet. 146A: 3198-3201
Powell Chandra Saal syndrome	Abnormalities, Multiple Heart Defects, Congenital Pterygium Limb Deformities, Congenital Ear/abnormalities Radius/abnormalities Vertebrates/abnormalities.
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia	Abnormalities, Multiple Dandy-Walker Syndrome Hernia, Diaphragmatic Nasopharyngeal Neoplasms *Teratoma.
Nasopalpebral lipoma coloboma syndrome	Abnormalities, Multiple Coloboma Eyelid Neoplasms Lipoma.
Ho Kaufman Mcalister syndrome	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	Abnormalities, Multiple Coloboma Hearing Loss, Sensorineural Heart Defects, Congenital Intellectual Disability Microphthalmos Ear/abnormalities.
Preaxial deficiency, postaxial polydactyly and hypospadias	Abnormalities, Multiple Hypospadias *Polydactyly.
Aughton syndrome	Abnormalities, Multiple Cleft Palate Dextrocardia Intellectual Disability *Microphthalmos.
Adducted thumb and clubfoot syndrome	Clubfoot Abnormalities, Multiple Thumb/abnormalities.
Bowen syndrome	Abnormalities, Multiple Contracture Glaucoma Facies.
McPherson Clemens syndrome	Abnormalities, Multiple Cleft Lip Cleft Palate Heart Defects, Congenital Facies Intestinal Volvulus.
McKusick Kaufman syndrome	Polydactyly Abnormalities, Multiple Heart Defects, Congenital Uterine Diseases *Hydrocolpos.
McDonough syndrome	Abnormalities, Multiple Cryptorchidism Heart Defects, Congenital Kyphosis Intellectual Disability Facies Rectus Abdominis/abnormalities.
Lacrimoauriculodentodigital syndrome	Syndactyly Abnormalities, Multiple Lacrimal Apparatus Diseases Tooth Abnormalities *Hearing Loss.
Kyphomelic dysplasia	Abnormalities, Multiple Bone Diseases, Developmental.
Hersh Podruch Weisskopk syndrome	Abnormalities, Multiple Growth Disorders *Microcephaly.
Pallister W syndrome	Abnormalities, Multiple Intellectual Disability *Craniofacial Abnormalities.
Palant cleft palate syndrome	Abnormalities, Multiple Cleft Palate Intellectual Disability Limb Deformities, Congenital *Facies.
Char syndrome	Abnormalities, Multiple Ductus Arteriosus, Patent Face/abnormalities Fingers/abnormalities.
Cervical ribs sprengel anomaly anal atresia urethral obstruction	Abnormalities, Multiple Anus, Imperforate *Urethral Obstruction.
Fine-Lubinsky syndrome	Abnormalities, Multiple Cataract Craniosynostoses Deafness *Intellectual Disability.
Femur fibula ulna syndrome	*Abnormalities, Multiple Femur/abnormalities Fibula/abnormalities Ulna/abnormalities.
Femur bifid with monodactylous ectrodactyly	Femur/abnormalities Tibia/abnormalities *Abnormalities, Multiple.
Bamforth syndrome	Abnormalities, Multiple Cleft Palate Hair Diseases Hypothyroidism.
Pfeiffer Tietze Welte syndrome	Abnormalities, Multiple Craniosynostoses Foot Deformities, Congenital Hand Deformities, Congenital *Intellectual Disability.	Eur J Pediatr 1987;146(1):74-5
Pfeiffer Palm Teller syndrome	Facies Abnormalities, Multiple Dental Enamel Hypoplasia Growth Disorders *Joint Diseases.	J Pediatr. 1977;91(6):955-7
Pfeiffer Mayer syndrome	Abnormalities, Multiple Coloboma Growth Disorders Intellectual Disability *Polydactyly.
Pfeiffer Kapferer syndrome	Abnormalities, Multiple Growth Disorders Hearing Loss, Sensorineural Intellectual Disability.
Petty Laxova Wiedemann syndrome	Abnormalities, Multiple Growth Disorders *Progeria.
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities	*Abnormalities, Multiple Ear/abnormalities Semicircular Canals/abnormalities.
Lateral meningocele syndrome	Abnormalities, Multiple Meningocele.
Larsen syndrome, recessive type	Abnormalities, Multiple Bone Diseases, Developmental Dislocations/congenital Musculoskeletal Abnormalities.
Larsen like syndrome, lethal type	Abnormalities, Multiple Dislocations/congenital *Thanatophoric Dysplasia.
Oculocerebral hypopigmentation syndrome type Preus	Abnormalities, Multiple Pigmentation Disorders *Craniofacial Abnormalities.
Novak syndrome	Abnormalities, Multiple Digestive System Diseases *Tracheal Diseases Larynx/abnormalities Trachea/abnormalities.
Macrosomia with lethal microphthalmia	Abnormalities, Multiple Cleft Palate Fetal Macrosomia Microphthalmos.
Axial mesodermal dysplasia spectrum	Abnormalities, Multiple Anus, Imperforate Contracture Goldenhar Syndrome Kidney/abnormalities Leg/abnormalities Sacrum/abnormalities.
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss	Abnormalities, Multiple Eye Abnormalities Hearing Loss, Sensorineural Heart Septal Defects, Atrial.
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Abnormalities, Multiple Dandy-Walker Syndrome *Pancreatic Cyst.
Oculorenocerebellar syndrome	Abnormalities, Multiple Eye Abnormalities Cerebellum/abnormalities Kidney/abnormalities.
Lutz Richner Landolt syndrome	Abnormalities, Multiple Cholestasis Jaundice Renal Insufficiency.
Kabuki syndrome	Abnormalities, Multiple Hematologic Diseases *Vestibular Diseases Face/abnormalities.
Jung Wolff Back Stahl syndrome	Abnormalities, Multiple Hypothyroidism *Tracheal Stenosis Cerebellum Anterior Chamber/abnormalities.
Genee-Wiedemann syndrome	Abnormalities, Multiple Mandibulofacial Dysostosis Micrognathism Limb Deformities, Congenital.
GEMSS syndrome	Abnormalities, Multiple Ectopia Lentis Glaucoma Growth Disorders *Joint Diseases.
Krieble Bixler syndrome	Abnormalities, Multiple Blepharophimosis.
Krauss Herman Holmes syndrome	Abnormalities, Multiple Foot Deformities Hypertelorism Strabismus *Blepharophimosis.
Sharma Kapoor Ramji syndrome	Abnormalities, Multiple Fetal Growth Retardation Face/abnormalities Ribs/abnormalities.
Seow Najjar syndrome	Abnormalities, Multiple Cataract *Dental Enamel Hypoplasia Cerebral Aqueduct/abnormalities.
Michels Caskey syndrome	Abnormalities, Multiple Hand Deformities, Congenital *46, XX Disorders of Sex Development Mullerian Ducts/abnormalities.
Jequier Kozlowski skeletal dysplasia	Abnormalities, Multiple Arthrogryposis Osteochondrodysplasias Craniofacial Abnormalities.
Jarcho-Levin syndrome	Abnormalities, Multiple Heart Defects, Congenital *Hernia, Diaphragmatic.
Microdontia hypodontia short stature	Abnormalities, Multiple Anodontia *Growth Disorders.
Microcephaly seizures mental retardation heart disorders	Abnormalities, Multiple Heart Defects, Congenital Intellectual Disability Microcephaly *Seizures Bone and Bones/abnormalities.
Seemanova Lesny syndrome	Abnormalities, Multiple Cataract/congenital Growth Disorders Hypogonadism Intellectual Disability Microcephaly *Muscle Spasticity.
Seckel like syndrome type Buebel	Abnormalities, Multiple Dwarfism *Craniofacial Abnormalities.	Am J Med Genet. 1996;64(3):447-52
Seaver Cassidy syndrome	Abnormalities, Multiple Hypertelorism *Craniofacial Abnormalities Joints/abnormalities Scrotum/abnormalities.	Am J Med Genet. 1991; 41(4):405-9
Scott Bryant Graham syndrome	Abnormalities, Multiple Skull/abnormalities Intellectual Disability *Syndactyly.
Podder-Tolmie syndrome	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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Abnormalities, Multiple