Ontology Browser

Term:
Loeys-Dietz syndrome (DOID:0050466)
Annotations: Rat: (33) Mouse: (34) Human: (37) Chinchilla: (30) Bonobo: (32) Dog: (32) Squirrel: (32)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3MC syndrome 1  
3p- syndrome 
Aase Smith Syndrome 
abdominal aortic aneurysm +   
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
achondrogenesis type II  
Acrocephalopolydactylous Dysplasia 
acrocephalosyndactylia +   
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
age related macular degeneration +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
Alagille syndrome  
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alexander Disease  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Andersen-Tawil syndrome  
Angelman syndrome  
Anisomastia 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Aortic Aneurysm, Giant Congenital 
Aortic Rupture  
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Aurocephalosyndactyly 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant non-syndromic intellectual disability 22  
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant Parkinson's disease 1  
autosomal dominant Parkinson's disease 22  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baller-Gerold syndrome  
Bamforth-Lazarus syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Beare-Stevenson cutis gyrata syndrome  
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Barel syndrome  
BIRK-LANDAU-PEREZ SYNDROME  
Birt-Hogg-Dube syndrome  
Blau syndrome  
Blepharochalasis and Double Lip 
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
blue color blindness  
Bohring Syndrome  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
Burnett Schwartz Berberian Syndrome +   
CADASIL 1  
CADASIL 2  
Calabro Syndrome 
Calvarial Hyperostosis 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
Carney complex +   
Carotid Artery Dissection, Internal +   
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Char syndrome  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
cherubism +   
CHILD Syndrome  
CHITAYAT SYNDROME  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 5p13 duplication syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
ciliopathy +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Clouston syndrome  
COACH Syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS Syndrome  
Coffin-Siris syndrome +   
Cole-Carpenter syndrome +   
Combined Oxidative Phosphorylation Deficiency 2  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
COUSIN SYNDROME  
Cowden syndrome +   
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Deafness Hand Syndrome  
Craniofacial Dyssynostosis 
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
Craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis 
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crouzon syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Culler-Jones syndrome  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Cutis Laxa-Marfanoid Syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Denys-Drash syndrome  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Desmosterolosis  
Devriendt syndrome 
Diaphanospondylodysostosis  
Digitorenocerebral Syndrome  
Dincsoy Salih Patel Syndrome 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donohue syndrome +   
Down syndrome +   
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
ectodermal dysplasia +   
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
EEC syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
epidermolysis bullosa simplex generalized type  
epidermolysis bullosa simplex localized type  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
Fg Syndrome 5 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Frasier syndrome  
Fried Goldberg Mundel Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontonasal Dysplasia 2  
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Geleophysic Dysplasia +   
Genee-Wiedemann Syndrome  
Genitopatellar Syndrome  
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hajdu-Cheney syndrome  
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
Hennekam syndrome +   
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hypertelorism +   
Hypomelia Mullerian Duct Anomalies 
hypomyelinating leukodystrophy 6  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
ichthyosis vulgaris +   
Iida Kannari Syndrome 
IMMUNODEFICIENCY 31C  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
inclusion-cell disease  
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Jackson-Weiss Syndrome  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Hersh Yusk Syndrome 
Joubert syndrome 1  
Jung Wolff Back Stahl Syndrome 
juvenile glaucoma  
juvenile polyposis syndrome +   
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Larsen syndrome  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Larsen-Like Syndrome, Lethal Type 
Lateral Meningocele Syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Le Marec Bracq Picaud Syndrome 
Leichtman Wood Rohn Syndrome 
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Li-Fraumeni syndrome +   
Light Fixation Seizure Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz syndrome +   
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Lopes Gorlin Syndrome 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lujan Fryns Syndrome  
Lung Agenesis  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lynch syndrome +   
Macrocephaly +   
macrocephaly-autism syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
malignant hyperthermia +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan Lipodystrophy Syndrome  
Marfan syndrome +   
Marfan Syndrome Type 2 
Marfan Syndrome, Autosomal Recessive  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Habitus with Situs Inversus 
Marfanoid Hypermobility Syndrome 
Marfanoid Mental Retardation Syndrome, Autosomal 
Marles Greenberg Persaud Syndrome  
Marshall Syndrome +   
Marshall-Smith syndrome  
maturity-onset diabetes of the young +   
Maxillofacial Abnormalities +   
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Mehta Lewis Patton Syndrome 
Meier-Gorlin syndrome 6  
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Michels Caskey Syndrome 
microcephaly +   
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microdontia Hypodontia Short Stature 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microspherophakia with Hernia 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
MIRAGE SYNDROME  
mitochondrial DNA depletion syndrome 12a  
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Muckle-Wells syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muenke syndrome  
Muller Barth Menger Syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple pterygium syndrome +   
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nonsyndromic Trigonocephaly +   
Noonan syndrome +   
Novak Syndrome 
ocular albinism with sensorineural deafness  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
Opitz GBBB Syndrome, Type II  
Opitz Trigonocephaly Syndrome  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Oslam syndrome 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
ovarian dysgenesis 8  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
PAPA syndrome  
paraganglioma +   
Pashayan Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pelger-Huet anomaly +   
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
permanent neonatal diabetes mellitus +   
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
photosensitive trichothiodystrophy +   
piebaldism +   
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Plagiocephaly +   
Plagiocephaly and X-Linked Mental Retardation 
Platybasia +  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
polycystic liver disease +   
popliteal pterygium syndrome +   
Posterior Exchondrosis of Pinna 
Potato Nose  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preauricular Fistulae, Congenital 
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
Prieto syndrome 
Primrose Syndrome  
Prolidase Deficiency  
Proteus syndrome +   
proximal symphalangism  
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
punctate palmoplantar keratoderma type III 
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
renal coloboma syndrome  
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
SADDAN  
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
SC phocomelia syndrome  
Scalp Ear Nipple Syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Sener Syndrome 
Sensenbrenner syndrome +   
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Shprintzen Golberg Craniosynostosis  
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 2  
Skeletal Dysplasia, San Diego Type 
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sonoda Syndrome 
Sotos syndrome +   
Splenogonadal Fusion Limb Defects Micrognatia 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondyloocular Syndrome, Autosomal Recessive  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stickler syndrome +   
Stoelinga de Koomen Davis Syndrome 
SWEENEY-COX SYNDROME  
syndromic X-linked intellectual disability Abidi type 
Tamari Goodman Syndrome 
tarsal-carpal coalition syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Tetra-Amelia with Pulmonary Hypoplasia 
Tetraamelia Multiple Malformations 
Tetrasomy X 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
thoracic aortic aneurysm +   
Thoracolaryngopelvic Dysplasia 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tietz syndrome  
Timothy syndrome  
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichothiodystrophy Syndromes +   
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome 
tuberous sclerosis +   
type 1 diabetes mellitus 2  
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Van Bogaert-Hozay Syndrome 
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
Vertebral Artery Dissection 
Vertebral Body Fusion Overgrowth 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel Syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worth's syndrome  
WT Limb Blood Syndrome 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS ;   Loeys Dietz aortic aneurysm syndrome ;   Loeys Dietz syndrome, type 1A ;   Marfanoid disorder with craniosynostosis, type 2
Primary IDs: MESH:D055947
Alternate IDs: DOID:9006669 ;   MESH:C538192 ;   RDO:0000153 ;   RDO:0004134
Xrefs: GARD:10788 ;   OMIM:PS609192 ;   ORDO:60030
Definition Sources: MESH:D055947, https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.