Abnormalities, Multiple [mnohočetné abnormality]
- Terms
-
abnormality mnohočetné
-
Multiple Abnormalities
Congenital abnormalities that affect more than one organ or body structure.
- Annotation
- coordinate with specific abnormalities
- DUI
- D000015 MeSH Browser
- CUI
- M0000015
- Previous indexing
- Abnormalities (1966-1967)
- History note
- 68
- Public note
- 68
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced 3
- CL
- classification 5
- DI
- diagnosis 53
- DG
- diagnostic imaging 3
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology 2
- EN
- enzymology 2
- EP
- epidemiology 12
- EH
- ethnology
- ET
- etiology 25
- GE
- genetics 59
- HI
- history 1
- IM
- immunology
- ME
- metabolism 2
- MI
- microbiology
- MO
- mortality 4
- NU
- nursing 1
- PS
- parasitology
- PA
- pathology 25
- PP
- physiopathology 6
- PC
- prevention & control 2
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation 1
- SU
- surgery 18
- TH
- therapy 12
- UR
- urine
- VE
- veterinary 1
- VI
- virology 1
3-Methylglutaconic Aciduria Type IV Disease MeSH Browser
3C syndrome Disease MeSH Browser
Aase Smith syndrome Disease MeSH Browser
Ablepharon macrostomia syndrome Disease MeSH Browser
Acrocephalopolydactylous Dysplasia Disease MeSH Browser
Acromegaloid features, overgrowth, cleft palate, and hernia Disease MeSH Browser
Adducted Thumbs Syndrome Disease MeSH Browser
Agenesis of Cerebellar Vermis Disease MeSH Browser
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations Disease MeSH Browser
Aksu von Stockhausen syndrome Disease MeSH Browser
Al Gazali Aziz Salem syndrome Disease MeSH Browser
Al-Gazali Syndrome Disease MeSH Browser
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism Disease MeSH Browser
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome Disease MeSH Browser
Anisomastia Disease MeSH Browser
Arthrogryposis epileptic seizures migrational brain disorder Disease MeSH Browser
Aughton syndrome Disease MeSH Browser
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Disease MeSH Browser
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss Disease MeSH Browser
Axial mesodermal dysplasia spectrum Disease MeSH Browser
Bainbridge-Ropers syndrome Chemical MeSH Browser
Bamforth syndrome Disease MeSH Browser
Ben Ari Shuper Mimouni syndrome Disease MeSH Browser
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Disease MeSH Browser
Beta-Ureidopropionase Deficiency Disease MeSH Browser
Blepharophimosis syndrome Ohdo type Disease MeSH Browser
Bowen syndrome Disease MeSH Browser
Brachydactyly, Intraventricular Septal Defect, And Deafness Disease MeSH Browser
Brachymesomelia renal syndrome Disease MeSH Browser
Branchiogenic-Deafness Syndrome Disease MeSH Browser
Broad Terminal Phalanges, Familial Disease MeSH Browser
Burnett Schwartz Berberian syndrome Disease MeSH Browser
COACH syndrome Disease MeSH Browser
Cerebrofaciothoracic Dysplasia Disease MeSH Browser
Cerebrofrontofacial Syndrome Disease MeSH Browser
Cervical ribs sprengel anomaly anal atresia urethral obstruction Disease MeSH Browser
Char syndrome Disease MeSH Browser
Chemke Oliver Mallek syndrome Disease MeSH Browser
Chondrodysplasia, Megarbane-Dagher-Melki Type Disease MeSH Browser
Chromosome 15q26-Qter Deletion Syndrome Disease MeSH Browser
Chromosome 17q21.31 Deletion Syndrome Disease MeSH Browser
Chromosome 19q13.11 Deletion Syndrome Disease MeSH Browser
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Disease MeSH Browser
Chromosome 1q43-Q44 Deletion Syndrome Disease MeSH Browser
Chromosome 22q11.2 Deletion Syndrome, Distal Disease MeSH Browser
Chromosome 22q11.2 Microduplication Syndrome Disease MeSH Browser
Chromosome 2p16.1-P15 Deletion Syndrome Disease MeSH Browser
Chromosome 2q31.2 Deletion Syndrome Disease MeSH Browser
Chromosome 2q32-Q33 Deletion Syndrome Disease MeSH Browser
Chromosome 5p13 Duplication Syndrome Disease MeSH Browser
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Disease MeSH Browser
Coffin-Siris syndrome Disease MeSH Browser
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Disease MeSH Browser
Contiguous Abcd1-Dxs1375e Deletion Syndrome Disease MeSH Browser
Costocoracoid ligament congenitally short Disease MeSH Browser
Craniofacial deafness hand syndrome Disease MeSH Browser
Craniofaciofrontodigital Syndrome Disease MeSH Browser
Craniofacioskeletal Syndrome Disease MeSH Browser
Craniomicromelic Syndrome Disease MeSH Browser
Craniosynostosis Syndrome, Autosomal Recessive Disease MeSH Browser
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Disease MeSH Browser
Cree Mental Retardation Syndrome Disease MeSH Browser
Crumpled helices and small mouth Disease MeSH Browser
Cryptomicrotia brachydactyly syndrome Disease MeSH Browser
DK Phocomelia Syndrome Disease MeSH Browser
Deafness nephritis ano rectal malformation Disease MeSH Browser
Delayed Cranial Ossification due to CBFB Haploinsufficiency Disease MeSH Browser
Desmosterolosis Disease MeSH Browser
Devriendt syndrome Disease MeSH Browser
Diarrhea 3, Secretory Sodium, Congenital Disease MeSH Browser
Dincsoy Salih Patel syndrome Disease MeSH Browser
Ectrodactyly cardiopathy dysmorphism Disease MeSH Browser
Elliott Ludman Teebi syndrome Disease MeSH Browser
Ellis Yale Winter syndrome Disease MeSH Browser
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract Disease MeSH Browser
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus Disease MeSH Browser
Facial Dysmorphism with Multiple Malformations Disease MeSH Browser
Facio thoraco genital syndrome Disease MeSH Browser
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder Disease MeSH Browser
Feingold Trainer syndrome Disease MeSH Browser
Femur bifid with monodactylous ectrodactyly Disease MeSH Browser
Femur fibula ulna syndrome Disease MeSH Browser
Fibrochondrogenesis Disease MeSH Browser
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation Disease MeSH Browser
Fine-Lubinsky syndrome Disease MeSH Browser
Flat umbilicus familial Disease MeSH Browser
Floating-harbor syndrome Disease MeSH Browser
Forney Robinson Pascoe syndrome Disease MeSH Browser
Fountain syndrome Disease MeSH Browser
Fraser Jequier Chen syndrome Disease MeSH Browser
Fried Goldberg Mundel syndrome Disease MeSH Browser
GEMSS syndrome Disease MeSH Browser
Gardner Morrisson Abbot syndrome Disease MeSH Browser
Genee-Wiedemann syndrome Disease MeSH Browser
Glutamyl Ribose-5-Phosphate Storage Disease Disease MeSH Browser
Gomez Lopez Hernandez syndrome Disease MeSH Browser
Gonadal Dysgenesis, XY Type, with Associated Anomalies Disease MeSH Browser
Grant syndrome Disease MeSH Browser
Growth Deficiency and Mental Retardation with Facial Dysmorphism Disease MeSH Browser
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Disease MeSH Browser
Hadziselimovic Syndrome Disease MeSH Browser
Halal syndrome Disease MeSH Browser
Hand foot uterus syndrome Disease MeSH Browser
Hanhart syndrome Disease MeSH Browser
Harrod Doman Keele syndrome Disease MeSH Browser
Heart defects limb shortening Disease MeSH Browser
Hecht Scott syndrome Disease MeSH Browser
Hecht syndrome Disease MeSH Browser
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities Disease MeSH Browser
Hersh Podruch Weisskopk syndrome Disease MeSH Browser
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly Disease MeSH Browser
Hittner Hirsch Kreh syndrome Disease MeSH Browser
Holt-Oram syndrome Disease MeSH Browser
Holzgreve Wagner Rehder syndrome Disease MeSH Browser
Hordnes Engebretsen Knudtson syndrome Disease MeSH Browser
Hunter-Macdonald Syndrome Disease MeSH Browser
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features Disease MeSH Browser
Hyperphosphatasia with Mental Retardation Disease MeSH Browser
Hypomelia mullerian duct anomalies Disease MeSH Browser
Hypoparathyroidism-retardation-dysmorphism syndrome Disease MeSH Browser
Hypophosphatemia, Renal, with Intracerebral Calcifications Disease MeSH Browser
Hypotonia, Seizures, And Precocious Puberty Disease MeSH Browser
Insulin-Like Growth Factor I, Resistance To Disease MeSH Browser
Iris dysplasia hypertelorism deafness Disease MeSH Browser
Jarcho-Levin syndrome Disease MeSH Browser
Jequier Kozlowski skeletal dysplasia Disease MeSH Browser
Jung Wolff Back Stahl syndrome Disease MeSH Browser
KBG syndrome Disease MeSH Browser
Kabuki syndrome Disease MeSH Browser
Kapur Toriello syndrome Disease MeSH Browser
Kashani Strom Utley syndrome Disease MeSH Browser
Kasznica Carlson Coppedge syndrome Disease MeSH Browser
Keratoconus Posticus Circumscriptus with Associated Malformations Disease MeSH Browser
Keutel syndrome Disease MeSH Browser
Kleiner Holmes syndrome Disease MeSH Browser
Knuckle pads, leuconychia and sensorineural deafness Disease MeSH Browser
Kosztolanyi syndrome Disease MeSH Browser
Kozlowski Brown Hardwick syndrome Disease MeSH Browser
Krauss Herman Holmes syndrome Disease MeSH Browser
Krieble Bixler syndrome Disease MeSH Browser
Kyphomelic dysplasia Disease MeSH Browser
Lacrimoauriculodentodigital syndrome Disease MeSH Browser
Larsen like syndrome, lethal type Disease MeSH Browser
Larsen syndrome, recessive type Disease MeSH Browser
Larsen-Like Syndrome Disease MeSH Browser
Lateral meningocele syndrome Disease MeSH Browser
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities Disease MeSH Browser
Laurin-Sandrow syndrome Disease MeSH Browser
Le Marec Bracq Picaud syndrome Disease MeSH Browser
Lenz Majewski hyperostotic dwarfism Disease MeSH Browser
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia Disease MeSH Browser
Light Fixation Seizure Syndrome Disease MeSH Browser
Lopes Gorlin syndrome Disease MeSH Browser
Lowry Maclean syndrome Disease MeSH Browser
Lung agenesis Disease MeSH Browser
Lutz Richner Landolt syndrome Disease MeSH Browser
Lymphedema, Cardiac Septal Defects, And Characteristic Facies Disease MeSH Browser
MORM syndrome Disease MeSH Browser
Macrosomia obesity macrocephaly ocular abnormalities Disease MeSH Browser
Macrosomia with lethal microphthalmia Disease MeSH Browser
Male pseudohermaphroditism-mental retardation syndrome, Verloes type Disease MeSH Browser
Malpuech facial clefting syndrome Disease MeSH Browser
Manouvrier syndrome Disease MeSH Browser
Marden Walker like syndrome Disease MeSH Browser
Marden-Walker syndrome Disease MeSH Browser
Marles Greenberg Persaud syndrome Disease MeSH Browser
Marshall-Smith syndrome Disease MeSH Browser
Martin-Probst Deafness-Mental Retardation Syndrome Disease MeSH Browser
McDonough syndrome Disease MeSH Browser
McKusick Kaufman syndrome Disease MeSH Browser
McPherson Clemens syndrome Disease MeSH Browser
Meckel Syndrome, Type 5 Disease MeSH Browser
Meckel Syndrome, Type 6 Disease MeSH Browser
Megacystis microcolon intestinal hypoperistalsis syndrome Disease MeSH Browser
Megalencephaly cutis marmorata telangiectatica congenita Disease MeSH Browser
Megarbane Jalkh Syndrome Disease MeSH Browser
Megarbane syndrome Disease MeSH Browser
Mehes syndrome Disease MeSH Browser
Melhem Fahl syndrome Disease MeSH Browser
Mental Retardation, Buenos Aires Type Disease MeSH Browser
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face Disease MeSH Browser
Mesomelia-synostoses syndrome Disease MeSH Browser
Mesomelic Limb Shortening and Bowing Disease MeSH Browser
Michels Caskey syndrome Disease MeSH Browser
Microcephaly albinism digital anomalies syndrome Disease MeSH Browser
Microcephaly seizures mental retardation heart disorders Disease MeSH Browser
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance Disease MeSH Browser
Microdontia hypodontia short stature Disease MeSH Browser
Microspherophakia with hernia Disease MeSH Browser
Morillo-Cucci Passarge syndrome Disease MeSH Browser
Mousa Al din Al Nassar syndrome Disease MeSH Browser
Mucolipidosis II Alpha Beta Disease MeSH Browser
Muller Barth Menger syndrome Disease MeSH Browser
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull Disease MeSH Browser
Multiple pterygium syndrome Disease MeSH Browser
Nablus mask-like facial syndrome Disease MeSH Browser
Nasopalpebral lipoma coloboma syndrome Disease MeSH Browser
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia Disease MeSH Browser
Neu Laxova syndrome Disease MeSH Browser
Neurofaciodigitorenal syndrome Disease MeSH Browser
Novak syndrome Disease MeSH Browser
Oculocerebral hypopigmentation syndrome type Preus Disease MeSH Browser
Oculootoradial syndrome Disease MeSH Browser
Oculopalatocerebral Syndrome Disease MeSH Browser
Oculorenocerebellar syndrome Disease MeSH Browser
Oslam syndrome Disease MeSH Browser
Palant cleft palate syndrome Disease MeSH Browser
Pallister W syndrome Disease MeSH Browser
Patterson pseudoleprechaunism syndrome Disease MeSH Browser
Pelvis-Shoulder Dysplasia Disease MeSH Browser
Penoscrotal transposition Disease MeSH Browser
Perisylvian syndrome Disease MeSH Browser
Pfeiffer Kapferer syndrome Disease MeSH Browser
Pfeiffer Mayer syndrome Disease MeSH Browser
Pfeiffer Palm Teller syndrome Disease MeSH Browser
Pfeiffer Tietze Welte syndrome Disease MeSH Browser
Piepkorn Karp Hickok syndrome Disease MeSH Browser
Pilotto syndrome Disease MeSH Browser
Pituitary Hormone Deficiency, Combined, 1 Disease MeSH Browser
Pituitary Hormone Deficiency, Combined, 4 Disease MeSH Browser
Podder-Tolmie syndrome Disease MeSH Browser
Pointer syndrome Disease MeSH Browser
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia Disease MeSH Browser
Potocki-Lupski syndrome Disease MeSH Browser
Powell Chandra Saal syndrome Disease MeSH Browser
Preaxial deficiency, postaxial polydactyly and hypospadias Disease MeSH Browser
Premature aging, Okamoto type Disease MeSH Browser
Primrose syndrome Disease MeSH Browser
Pseudoaminopterin syndrome Disease MeSH Browser
Pterygium colli mental retardation digital anomalies Disease MeSH Browser
Qazi Markouizos syndrome Disease MeSH Browser
Radial defect Robin sequence Disease MeSH Browser
Radial hypoplasia, triphalangeal thumbs and hypospadias Disease MeSH Browser
Raine syndrome Disease MeSH Browser
Ramos Arroyo Clark syndrome Disease MeSH Browser
Rasmussen Johnsen Thomsen syndrome Disease MeSH Browser
Renal Tubular Dysgenesis With Choanal Atresia And Athelia Disease MeSH Browser
Renal hepatic pancreatic dysplasia Dandy Walker cyst Disease MeSH Browser
Renal-Hepatic-Pancreatic Dysplasia Disease MeSH Browser
Rozin Hertz Goodman syndrome Disease MeSH Browser
Rudiger Syndrome Disease MeSH Browser
Ruvalcaba Syndrome Disease MeSH Browser
SCARF syndrome Disease MeSH Browser
Saal Bulas syndrome Disease MeSH Browser
Sackey Sakati Aur syndrome Disease MeSH Browser
Sacral defect and anterior sacral meningocele Disease MeSH Browser
Sacral meningocele conotruncal heart defects Disease MeSH Browser
Samson Viljoen syndrome Disease MeSH Browser
Sanderson Fraser syndrome Disease MeSH Browser
Sandhaus Ben-Ami syndrome Disease MeSH Browser
Sao Paulo MCA-MR Syndrome Disease MeSH Browser
Say Field Coldwell syndrome Disease MeSH Browser
Say Meyer syndrome Disease MeSH Browser
Say syndrome Disease MeSH Browser
Scalp ear nipple syndrome Disease MeSH Browser
Schaefer Stein Oshman syndrome Disease MeSH Browser
Schinzel-Giedion syndrome Disease MeSH Browser
Schrander-Stumpel Theunissen Hulsmans syndrome Disease MeSH Browser
Scott Bryant Graham syndrome Disease MeSH Browser
Seaver Cassidy syndrome Disease MeSH Browser
Seckel like syndrome type Buebel Disease MeSH Browser
Seemanova Lesny syndrome Disease MeSH Browser
Seow Najjar syndrome Disease MeSH Browser
Sharma Kapoor Ramji syndrome Disease MeSH Browser
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting Disease MeSH Browser
Shprintzen omphalocele syndrome Disease MeSH Browser
Siegler Brewer Carey syndrome Disease MeSH Browser
Silengo Lerone Pelizza syndrome Disease MeSH Browser
Simpson-Golabi-Behmel Syndrome, Type 2 Disease MeSH Browser
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects Disease MeSH Browser
Spondylocarpotarsal synostosis Disease MeSH Browser
Spondylohypoplasia, arthrogryposis and popliteal pterygium Disease MeSH Browser
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features Disease MeSH Browser
Stevenson-Carey Syndrome Disease MeSH Browser
Stoelinga de Koomen Davis syndrome Disease MeSH Browser
Tamari Goodman syndrome Disease MeSH Browser
Teebi Shaltout syndrome Disease MeSH Browser
Teeth noneruption of with maxillary hypoplasia and genu valgum Disease MeSH Browser
Tetra-amelia with pulmonary hypoplasia Disease MeSH Browser
Tetraamelia multiple malformations Disease MeSH Browser
Thakker Donnai syndrome Disease MeSH Browser
Thomas Jewett Raines syndrome Disease MeSH Browser
Thomas syndrome Disease MeSH Browser
Thoracolaryngopelvic dysplasia Disease MeSH Browser
Thymic Aplasia with Fetal Death Disease MeSH Browser
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies Disease MeSH Browser
Tollner Horst Manzke syndrome Disease MeSH Browser
Townes-Brocks syndrome Disease MeSH Browser
Townes-Brocks-Branchiootorenal-Like Syndrome Disease MeSH Browser
Tricho-dento-osseous syndrome 1 Disease MeSH Browser
Triphalangeal thumbs brachyectrodactyly Disease MeSH Browser
Trisomy 18-Like Syndrome Disease MeSH Browser
Tsukahara Syndrome Disease MeSH Browser
Ulnar-mammary syndrome Disease MeSH Browser
Urioste Martinez-Frias syndrome Disease MeSH Browser
Urogenital adysplasia Disease MeSH Browser
Uropathy distal obstructive polydactyly Disease MeSH Browser
Uruguay Faciocardiomusculoskeletal Syndrome Disease MeSH Browser
Van Maldergem Wetzburger Verloes syndrome Disease MeSH Browser
Van der Woude syndrome Disease MeSH Browser
Van der Woude syndrome 2 Disease MeSH Browser
Velofacioskeletal syndrome Disease MeSH Browser
Verloove-Vanhorick Brubakk syndrome Disease MeSH Browser
Vohwinkel syndrome Disease MeSH Browser
WT limb blood syndrome Disease MeSH Browser
Walbaum Titran Durieux Crepin syndrome Disease MeSH Browser
Warburg Sjo Fledelius syndrome Disease MeSH Browser
Weaver syndrome Disease MeSH Browser
Weaver-Like Syndrome Disease MeSH Browser
Weyers acrofacial dysostosis Disease MeSH Browser
Weyers ulnar ray-oligodactyly syndrome Disease MeSH Browser
White forelock with malformations Disease MeSH Browser
Wiedemann Grosse Dibbern syndrome Disease MeSH Browser
Winchester syndrome Disease MeSH Browser
Winter Harding Hyde syndrome Disease MeSH Browser
Woolly hair, hypotrichosis, everted lower lip and outstanding ears Disease MeSH Browser
XK aprosencephaly Disease MeSH Browser
Yemenite deaf-blind hypopigmentation syndrome Disease MeSH Browser
Yim Ebbin syndrome Disease MeSH Browser
Zadik Barak Levin syndrome Disease MeSH Browser
Zechi-Ceide Syndrome Disease MeSH Browser
Zimmerman Laband syndrome Disease MeSH Browser
Narrower terms
- 22q11 Deletion Syndrome
- Alagille Syndrome
- Angelman Syndrome
- Barth Syndrome
- Basal Cell Nevus Syndrome
- Beckwith-Wiedemann Syndrome
- Bloom Syndrome
- Branchio-Oto-Renal Syndrome
- Carney Complex
- Ciliopathies
- 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
- Polycystic Kidney Diseases
- 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
- Trisomy 13 Syndrome
- Trisomy 18 Syndrome
- Waardenburg Syndrome
- Weill-Marchesani Syndrome
- Wolf-Hirschhorn Syndrome
- Zellweger Syndrome