Ontology Browser

Term:
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (DOID:9008728)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
cleft lip +     
cleft palate +     
microcephaly +     
22q11 Deletion Syndrome +   
3MC syndrome 3  
3p- syndrome 
Aarskog syndrome +   
Aase Smith Syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
AL-RAQAD SYNDROME  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Amish Lethal Microcephaly  
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Aortic Coarctation +   
aortic valve disease 1  
Aphalangia Syndactyly Microcephaly 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
arrhythmogenic right ventricular cardiomyopathy +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
Au-Kline Syndrome  
Aughton Syndrome 
Ausems Wittebol-Post Hennekam Syndrome 
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Bamforth-Lazarus syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
blepharocheilodontic syndrome +   
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bonneau Syndrome 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiac Valvular Dysplasia, X-Linked  
Cardiac-Urogenital Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 1q21.1 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
CK Syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
Cleft Lip, Congenital Healed 
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  
Cohen Syndrome  
Coloboma of Macula and Skeletal Anomalies 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Heart Defects, and Other Congenital Anomalies  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Heart Defects, Multiple Types, 2  
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4  
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5  
Congenital Heart Defects, X-Linked +   
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Symmetric Circumferential Skin Creases +   
Conotruncal Cardiac Defects  
Cor Triatriatum 
Coronary Vessel Anomalies +   
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofaciofrontodigital Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Crisscross Heart 
Crumpled Helices and Small Mouth 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Developmental Cardiac Valvular Defect  
dextro-looped transposition of the great arteries +   
dextrocardia +   
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
Dubowitz syndrome 
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
Ebstein anomaly  
Ectopia Cordis 
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Eisenmenger Complex  
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiomelic Dysplasia, Lethal 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Familial Anomalous Origin of Right Pulmonary Artery 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Galloway-Mowat syndrome +   
Gay Feinmesser Cohen Syndrome 
Genito Palato Cardiac Syndrome 
GOMBO Syndrome 
Gordon Syndrome  
Grange Syndrome  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Syndrome 
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
Heart Defects Limb Shortening 
heart septal defect +   
Heart-Hand Syndrome, Slovenian Type  
Heart-Hand Syndrome, Spanish Type 
Hecht Scott Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hoyeraal Hreidarsson Syndrome  
hydrolethalus syndrome +   
hypertelorism, microtia, facial clefting syndrome 
Hypodontia Oligodontia with Orofacial Cleft 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypoplastic left heart syndrome +   
hypoplastic right heart syndrome  
Hypospadias-Mental Retardation Syndrome 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Iida Kannari Syndrome 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
isolated cleft palate  
Isolated Noncompaction of the Ventricular Myocardium +   
jaw-winking syndrome 
Jorgenson Lenz Syndrome 
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Kleefstra syndrome +   
Kniest dysplasia  
Kuster Syndrome 
Ladda Zonana Ramer syndrome 
Lambotte Syndrome 
Larsen syndrome  
Larsen Syndrome, Recessive Type  
LEOPARD syndrome +   
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Levocardia 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
long QT syndrome +   
Lowry Maclean syndrome 
Lowry Wood Syndrome 
MacDermot Winter Syndrome 
Macrosomia with Lethal Microphthalmia 
mandibulofacial dysostosis, Guion-Almeida type  
Marfan syndrome +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Martinez Monasterio Pinheiro Syndrome 
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
Meacham Winn Culler Syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
MEHMO syndrome  
Mehta Lewis Patton Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mexican Cardiomelic Dysplasia 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 13  
Microtia, Hearing Impairment, and Cleft Palate  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Native American myopathy  
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
Nijmegen Breakage Syndrome-Like Disorder  
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
Noonan syndrome +   
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Ohdo syndrome +   
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Orstavik Lindemann Solberg Syndrome  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Paine Syndrome 
Palant Cleft Palate Syndrome 
PARC Syndrome 
Partington Anderson Syndrome 
patent ductus arteriosus +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Peters plus syndrome  
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
popliteal pterygium syndrome +   
porencephaly +   
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Powell Chandra Saal Syndrome 
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudodiastrophic Dysplasia 
Pulmonary Atresia with Intact Ventricular Septum  
Raine Syndrome  
Rajab Syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Right Ventricle Hypoplasia  
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Saal Bulas Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Sakoda Complex 
Sammartino De Crecchio Syndrome 
Samson Viljoen Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schimke X-Linked Mental Retardation Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scimitar syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Selective Tooth Agenesis with Orofacial Cleft 
Seres-Santamaria Arimany Muniz Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Sonoda Syndrome 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Steinfeld Syndrome 
Stratton-Parker Syndrome 
Stromme syndrome  
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP Syndrome  
Teebi Kaurah Syndrome 
Ter Haar Syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
Thomas Syndrome 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
tricuspid atresia +   
Trilogy of Fallot 
Tsukahara Syndrome 
Turner syndrome +   
Uhl Anomaly 
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
VACTERL association  
VACTERL/VATER Association with Hydrocephalus  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verloove-Vanhorick Brubakk Syndrome 
visceral heterotaxy +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Winship Viljoen Leary Syndrome 
Wolff-Parkinson-White syndrome  
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 
Zerres Rietschel Majewski Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY, AND DIGITAL ANOMALIES ;   CPCMR ;   MEIS2-RELATED DISORDER
Related Synonyms: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
Primary IDs: MESH:C563414
Alternate IDs: OMIM:600987 ;   RDO:0012676

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