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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
Substance
CAS Registry & name
Categories
Source
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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