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Term:
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss (DOID:9000116)
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Parent Terms Term With Siblings Child Terms
cleft palate +     
Facies +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p deletion syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acrootoocular Syndrome 
Adducted Thumbs Syndrome +   
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 Gazali Hirschsprung Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Alagille syndrome  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
aminoglycoside-induced deafness  
Angelman syndrome  
Anisomastia 
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Au-Kline Syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant mental retardation 49  
autosomal dominant non-syndromic intellectual disability 22  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
Ayme-Gripp syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
BADS syndrome 
Baetz-Greenwalt syndrome 
Baker Vinters Syndrome 
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease type 4A  
Bartter disease type 4b  
Basel-Vanagaite-Smirin-Yosef syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen 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  
Bjornstad syndrome  
Blepharochalasis and Double Lip 
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
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 
Brown-Vialetto-Van Laere syndrome +   
Brunoni Syndrome 
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
C syndrome  
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
CAPOS Syndrome  
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
cardiofaciocutaneous syndrome +   
Carney complex +   
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CATIFA SYNDROME  
CEBALID Syndrome  
ceft palate, cardiac defects, and intellectual disabillity  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebellofaciodental Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
CHITAYAT SYNDROME  
Chitty Hall Baraitser 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 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 
Chudley-Mccullough syndrome  
ciliopathy +   
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
cleidocranial dysplasia +   
COACH syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Coloboma of Macula and Skeletal Anomalies 
combined oxidative phosphorylation deficiency 2  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 3  
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 Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness with Total Albinism 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital secretory sodium diarrhea 3  
Congenital Symmetric Circumferential Skin Creases +   
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical deafness +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cousin 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 Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness Oligodontia Syndrome 
Deafness, High-Frequency Sensorineural, X-Linked 
Deafness, Nephritis, Anorectal Malformation 
Deafness, Progressive High-Tone Neural 
Deafness-Craniofacial Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Desmosterolosis  
Devriendt syndrome 
Diamond-Blackfan Anemia with Microtia and Cleft Palate 
Diaphanospondylodysostosis  
dilated cardiomyopathy 1J  
Dincsoy Salih Patel Syndrome 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
distal arthrogryposis type 3  
distal arthrogryposis type 6 
distal arthrogryposis type 7  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Dubowitz syndrome  
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Edinburgh Malformation Syndrome 
EEC syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Ermine Phenotype 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
FACES Syndrome 
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  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
FG Syndrome 5 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Flynn Aird Syndrome 
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Fried Goldberg Mundel Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome 
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
geleophysic dysplasia +   
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Glutamyl Ribose-5-Phosphate Storage Disease 
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gonadal Dysgenesis, XX Type, with Deafness +   
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Granddad Syndrome 
Grant Syndrome 
Griscelli syndrome +   
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Hardikar Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hay Wells Syndrome Recessive Type 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Heimler syndrome 1  
Hennekam syndrome +   
hereditary spastic paraplegia 23  
Hersh Podruch Weisskopk Syndrome 
HID Syndrome  
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly 10 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hordnes Engebretsen Knudtson syndrome 
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-Macdonald Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hypertelorism +   
hypertelorism, microtia, facial clefting syndrome 
Hypodontia Oligodontia with Orofacial Cleft 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Ichthyosis Cheek Eyebrow Syndrome 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
Iida Kannari Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
inclusion-cell disease  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated cleft palate  
Isolated Noncompaction of the Ventricular Myocardium +   
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Hersh Yusk Syndrome 
Joubert syndrome 1  
Juberg Hayward Syndrome  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kahrizi syndrome  
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
Klippel-Feil syndrome 4  
Kniest dysplasia  
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuster Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Larsen syndrome  
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Leri Pleonosteosis 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz 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 
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malocclusion and Short Stature 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Mental Retardation Syndrome, Autosomal  
Marles Greenberg Persaud Syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
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 
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 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Michels Caskey Syndrome 
microcephaly +   
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
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 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microdontia Hypodontia Short Stature 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microspherophakia with Hernia 
Microtia, Hearing Impairment, and Cleft Palate  
Mid-Tone Neural Deafness 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
MIRAGE SYNDROME  
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Mullegama-Klein-Martinez 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 Epiphyseal Dysplasia with Robin Phenotype 
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
MYH-9 related disease +   
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Native American myopathy  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nonsyndromic Sensorineural Hearing Loss +   
Noonan syndrome +   
Novak Syndrome 
ocular albinism with sensorineural deafness  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Ogden syndrome  
Omodysplasia 2  
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Orbital Margin, Hypoplasia of 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Oslam syndrome 
Osteolysis Syndrome, Recessive 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
PARC Syndrome 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Pendred syndrome  
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierson syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Pilotto Syndrome 
Plagiocephaly +   
Platybasia +  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Posterior Exchondrosis of Pinna 
Potato Nose 
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Prieto syndrome 
Primrose Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Progressive Nephropathy with Deafness 
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
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  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Retinitis Pigmentosa Inversa with Deafness 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti 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 
Sakoda Complex 
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  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel Syndrome 3 
Seemanova Lesny Syndrome 
Selective Tooth Agenesis with Orofacial Cleft 
Sener Syndrome 
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Seow Najjar Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature-Obesity Syndrome 
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  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Snijders Blok-Campeau Syndrome  
Sonoda Syndrome 
Sotos syndrome +   
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spinocerebellar Ataxia with Dysmorphism 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation 1 with sensorineural hearing loss  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondyloocular Syndrome, Autosomal Recessive  
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Sudden Hearing Loss  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Turner type  
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Telecanthus +   
Temtamy syndrome  
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Tetrasomy X 
Thakker Donnai Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tricho-Dento-Osseous Syndrome 1 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome  
Tunglang Savage Bellman Syndrome 
Turnpenny-Fry Syndrome  
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral Body Fusion Overgrowth 
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
WEISS-KRUSZKA 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  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worth syndrome  
WT Limb Blood Syndrome 
X-linked cleft palate with or without ankyloglossia  
X-linked nonsyndromic deafness +   
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: Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss
Primary IDs: MESH:C536427 ;   RDO:0002022

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