| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... |
OMIM:614669 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly ro... |
ORPHA:2972 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Bifid uvula, Preauricular pit, Fac... |
OMIM:301022 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Treacher Collins Syndrome 3 |
|
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, Malar fl... |
OMIM:248390 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Fusion of middle ear ossicles, Microtia, ... |
OMIM:613717 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Cryptorchidism... |
ORPHA:1131 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P... |
ORPHA:3304 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Abnormally large globe, Cubitus valgus, Cari... |
OMIM:269300 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... |
ORPHA:1832 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm... |
ORPHA:1110 |
| Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Epicanthus, Wide cranial sutures, Frontal bossing, Scaphocephaly, Denta... |
OMIM:619149 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Synophrys, Brachycephaly, Downturned corners of mouth, H... |
ORPHA:1327 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Aplas... |
ORPHA:1926 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Downturned corners of ... |
OMIM:239300 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Cachexia, Micrognathia, Prominent nose,... |
ORPHA:2471 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, P... |
OMIM:613792 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus |
ORPHA:2516 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Anterior creases of earlobe, Hypoplastic l... |
ORPHA:1727 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Abnormally large globe, Prominent nose, ... |
OMIM:210600 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... |
ORPHA:1913 |
| Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Epicanthus, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent n... |
OMIM:300749 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con... |
ORPHA:861 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of... |
OMIM:257850 |
| Pierpont Syndrome |
|
Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Short toe, Long upper lip, Uni... |
OMIM:602342 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... |
ORPHA:363417 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Apnea, Dental crowding, Posteriorly rotated ears, Micrognath... |
OMIM:602483 |
| Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Carious teeth, Promine... |
OMIM:613684 |
| Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Atrial septal defect, Cryptorchidism, Patent ductus ar... |
OMIM:179613 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, M... |
OMIM:617022 |
| 17Q21.31 Microduplication Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Synophrys, High palate,... |
ORPHA:217340 |
| Larsen-Like Syndrome |
|
Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, C... |
OMIM:608545 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Brachyc... |
ORPHA:1695 |
| Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect... |
OMIM:609029 |
| Carpenter Syndrome 1 |
|
Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Conductiv... |
OMIM:201000 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Abnormally large globe, Gingival overgrowth, Decreased calvarial ossif... |
OMIM:614592 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly,... |
ORPHA:46 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... |
ORPHA:229 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Pierre-Robin sequence, Anter... |
OMIM:617877 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Short philtrum, Widely spaced teeth, Microdontia, Anteverted nares, Exaggerated cupid'... |
OMIM:619293 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Overriding aort... |
ORPHA:477817 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, External ear malformation, Micrognathia, Pulmonary a... |
ORPHA:251071 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Pierpont Syndrome |
|
Thin upper lip vermilion, Telecanthus, Posteriorly rotated ears, Small for gestational age, Uplif... |
ORPHA:487825 |
| Emanuel Syndrome |
|
Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... |
ORPHA:96170 |
| Branchiooculofacial Syndrome |
|
Short neck, Micrognathia, Postauricular pit, Conductive hearing impairment, Ectopic thymus tissue... |
OMIM:113620 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Small for gestational age, Anteverted nares, Highly arched eyebrow, Mi... |
OMIM:615834 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o... |
ORPHA:3426 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... |
OMIM:192430 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Stapes ankylosis, Mandibular prognathia, Papilledema, Dental crowding,... |
OMIM:614188 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Muenke Syndrome |
|
Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Dental malocclusion... |
OMIM:602849 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, A... |
OMIM:617516 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus... |
OMIM:610883 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Anteverted nares, Microg... |
ORPHA:2015 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... |
OMIM:155050 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broa... |
OMIM:617808 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Epicanthus, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Upslanted palpebral fissu... |
OMIM:248910 |
| Treacher Collins Syndrome 4 |
|
Respiratory failure requiring assisted ventilation, Micrognathia, Lower eyelid coloboma, Cleft pa... |
OMIM:618939 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:3074 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Thickened calvaria, Hear... |
ORPHA:178377 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... |
ORPHA:79113 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath... |
ORPHA:261120 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Op... |
ORPHA:207 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor... |
OMIM:615583 |
| Frank-Ter Haar Syndrome |
|
Flat occiput, Micrognathia, Abnormally large globe, Brachycephaly, Protruding ear, High palate, S... |
OMIM:249420 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathi... |
ORPHA:171839 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Microtia, Blepha... |
OMIM:141300 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i... |
ORPHA:90646 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Micrognathia, Underdeveloped nasal alae, Diastema, Dental malocclusion, Upslant... |
ORPHA:436245 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Encephaloc... |
ORPHA:2162 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Abnormally large globe, Multiple joint dislocation, Brachycephaly, Knee dislocation... |
OMIM:245600 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Underdeveloped nasal alae, Dental malocclusion, Upslanted palpebral fissure, Wi... |
OMIM:616108 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Macrotia, De... |
ORPHA:61 |
| Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition ... |
OMIM:616789 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypoplasi... |
ORPHA:193 |
| Sandestig-Stefanova Syndrome |
|
Short neck, Muscular ventricular septal defect, Orofacial cleft, Respiratory failure, Perimembran... |
OMIM:618804 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Short neck, Microg... |
OMIM:158170 |
| Cornelia De Lange Syndrome 5 |
|
Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced t... |
OMIM:300882 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Prominent nose, Anteverted ears, Synophrys, Dental malocclusion, Macrotia |
OMIM:615541 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dental crowding, Micrognathia... |
OMIM:615761 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... |
ORPHA:1968 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimem... |
OMIM:608104 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Preauricular skin furrow, Hearing abnormality, Cryptorchidism, Aplasia/Hypo... |
ORPHA:1555 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Acrootoocular Syndrome |
|
Micrognathia, High, narrow palate, Conductive hearing impairment, Anodontia, Short metacarpal, Su... |
ORPHA:2980 |
| Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Long eyela... |
OMIM:618608 |
| Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Epicanthus, Posteriorly rotated ears, Small for gestati... |
OMIM:614541 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... |
ORPHA:2863 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ... |
OMIM:601186 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r... |
ORPHA:244 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cleft lip, Short metatarsal, Abnormal earlobe morphology, Wide ... |
ORPHA:217017 |
| Cebalid Syndrome |
|
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Antever... |
OMIM:618774 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Depress... |
OMIM:618672 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Deep philtrum, Wid... |
OMIM:619717 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of ... |
OMIM:615502 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Hypoplasia of the zygomatic bone, Protruding ear |
ORPHA:319171 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Microtia, Hypoplasia ... |
ORPHA:245 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontane... |
OMIM:601853 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Patent ductus arteriosus, Decreased compound muscle action potentia... |
OMIM:619519 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced tee... |
ORPHA:369891 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Exaggerated cupid... |
OMIM:617752 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Facial palsy, Respiratory insufficiency due to muscle weakness, Dental mal... |
OMIM:608931 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... |
OMIM:618316 |
| Charge Syndrome |
|
Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Hypogonadotropic hypogon... |
ORPHA:138 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, Choreoathetosis, High... |
OMIM:234100 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Toluene Embryopathy |
|
Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Micrognathia |
ORPHA:1920 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Patent ductus arteriosus, Muscular ventricular septa... |
ORPHA:363444 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Low-set ears, Protruding ear |
ORPHA:1778 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypopl... |
OMIM:136760 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
| Weiss-Kruszka Syndrome |
|
Preauricular pit, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Exaggerat... |
OMIM:618619 |
| Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... |
OMIM:185800 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Frontal bossing, Posteriorly rotated ears, Anteverted nares... |
OMIM:613604 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft p... |
ORPHA:1166 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypoplasi... |
OMIM:218000 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Thin upper lip vermilion, Micrognathia, ... |
OMIM:615419 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Brachycephaly, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Short femor... |
OMIM:614701 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Inte... |
OMIM:619657 |
| Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Potocki-Shaffer Syndrome |
|
Epicanthus, Telecanthus, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal b... |
OMIM:601224 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Brachycephaly, Short palm, Abnormal nasal bridge morphology, Low-set,... |
ORPHA:363659 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Frontal bossing, Depressed nasal bridge, Optic atrophy, Wide nasal bri... |
ORPHA:1513 |
| Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ... |
OMIM:300867 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Taurodontia, High palate, Pulmonic stenosis, Low-set ea... |
OMIM:618205 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... |
ORPHA:93262 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterio... |
ORPHA:163649 |
| Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Abnormal vascular morphology, Intestinal perforation, Abnormali... |
ORPHA:314652 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, Bi... |
ORPHA:2780 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Low-set ears, Malar flattening, Midfa... |
OMIM:122430 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Retrognathia, Abnormally large globe, Convex nasal ridge, Ptosis |
OMIM:210700 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Conotruncal defect, Microtia, High p... |
ORPHA:40366 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Cupped ear, Wide mouth, High palate, Transposition of the great arterie... |
OMIM:617982 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia... |
ORPHA:2528 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Short thumb, Brac... |
OMIM:600325 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
| Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Brachycephaly, Upsla... |
ORPHA:93950 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Cor pulmonale, Upper airway o... |
OMIM:261800 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, ... |
ORPHA:1790 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, ... |
ORPHA:261330 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Large earlobe, Hypoplasia of the zygomatic bone, Macrotia |
ORPHA:2715 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Preauricular pit, Abnormality of the... |
OMIM:609166 |
| Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart ... |
OMIM:101400 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morphology, Hea... |
ORPHA:2511 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, Median ... |
OMIM:617746 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Epicanthus, Thin upper lip vermilion, Posteriorly rotated ears, Failure to thriv... |
OMIM:616801 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... |
ORPHA:1388 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short neck, Micrognathia, Patent ductus arteriosus, Short philtrum, Low-set ears, Abnormal oral c... |
ORPHA:1516 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Brachycephaly, Cleft palate, Abnormal a... |
ORPHA:2145 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Trigonocephaly,... |
OMIM:610536 |
| Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate, Abnorm... |
ORPHA:91412 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Elbow dislocation, Conductive... |
ORPHA:3236 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Underfolded helix, Thick lower lip vermil... |
OMIM:157980 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Double... |
OMIM:618254 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hearing impairment, ... |
OMIM:619736 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eye... |
OMIM:618828 |
| Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, Tremor, High, narrow palate, Synophrys, High palate, Short philtru... |
OMIM:619312 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Facial palsy... |
OMIM:614744 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Short femur, Posteriorly rotated ears, Small for gestational age, Anteverted nares, ... |
OMIM:616897 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide ... |
OMIM:263210 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Anteverted nares, Dental malocclusion, High palate, Downslante... |
OMIM:618292 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Failure to thrive, Flat occiput, Abnormal pinna morphology, Prominent n... |
OMIM:617452 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Abnormality of the malleus, Conductive hearing impairment, Advanced... |
ORPHA:949 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Frontal bossing, Underfolded he... |
ORPHA:2563 |
| Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe, Bulbous nose, Obesity, Wide nasal bridge, Blepharophimosis, Short nose, D... |
OMIM:611936 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Bangstad Syndrome |
|
Retrognathia, Small for gestational age, Convex nasal ridge, Abnormally large globe |
OMIM:210740 |
| Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Microretrognathia, Preauricular pit, Abnormality of the dentit... |
ORPHA:1786 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Conductive... |
OMIM:182212 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Micrognathia, Cleft upper ... |
OMIM:616145 |
| Perlman Syndrome |
|
Epicanthus, Posteriorly rotated ears, Anteverted nares, Micrognathia, High, narrow palate, Open m... |
ORPHA:2849 |
| 2Q32Q33 Microdeletion Syndrome |
|
Anteverted nares, Prominent nasal bridge, Dental crowding, Micrognathia, Brachycephaly, Cleft pal... |
ORPHA:251019 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ... |
OMIM:618577 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Turricephaly, Anteverted nares, Brachycephaly, Thin vermilion border, Low-set ears, ... |
ORPHA:1532 |
| Cornelia De Lange Syndrome 2 |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Highly arche... |
OMIM:300590 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Underdeveloped nasa... |
OMIM:608572 |
| Acrocardiofacial Syndrome |
|
Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Camptodactyly of f... |
ORPHA:2008 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Ankle flexion c... |
ORPHA:435938 |
| Monosomy 18P |
|
Epicanthus, Generalized dystonia, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, P... |
ORPHA:1598 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
| Heart And Brain Malformation Syndrome |
|
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, W... |
OMIM:616920 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Frontal bossing, Small for gestational age, Antev... |
OMIM:612921 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Abnormal heart valve morphology, Short n... |
ORPHA:1340 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... |
OMIM:184460 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Posteriorly rotated ears, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:301056 |
| Branchiootic Syndrome |
|
Preauricular pit, Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality ... |
ORPHA:52429 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Brachycephaly, Furrowed ... |
ORPHA:1387 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Epicanthus, Short metacarpal, Abnormal pinna morphology, Small for gestational... |
OMIM:123450 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Posteriorly rotated ears, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Dela... |
OMIM:618506 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Failure to thrive, Broad nasal tip, Overweight, Recurrent upper respirator... |
ORPHA:391372 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Anteverted nares, Prominent n... |
ORPHA:2332 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Synophrys, Obesity, Upslanted palpebral fissure, Larg... |
OMIM:617991 |
| Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Periodontitis, Ope... |
ORPHA:955 |
| Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Respiratory insuffic... |
ORPHA:1895 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Oculoauriculofrontonasal Syndrome |
|
Wide nose, Micrognathia, Underdeveloped nasal alae, Conductive hearing impairment, Bifid nasal ti... |
ORPHA:398156 |
| Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Cr... |
OMIM:101200 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Conductive hearing impairment, Depressed nasal bridge, ... |
ORPHA:794 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Telecanthus, Apnea, Anteverted na... |
ORPHA:314655 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Epicanthus, Telecanthus, Posteriorly rotated ears, Tarsal synost... |
OMIM:157800 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Hyd... |
OMIM:613603 |
| Potocki-Shaffer Syndrome |
|
Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Par... |
ORPHA:52022 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Death in infancy, Short neck, Secundum atrial septal defect, Micrognathi... |
OMIM:608779 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Telecanthus, Small for gestational age, Micrognathia,... |
OMIM:269880 |
| Hamamy Syndrome |
|
Micrognathia, Brachycephaly, High palate, Anteverted nares, Sparse eyebrow, Wide nasal bridge, Lo... |
OMIM:611174 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Delayed cranial suture closure, Abnormally large globe, Micrognathia, Abnormal t... |
ORPHA:2457 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Protruding ear, Narrow... |
ORPHA:1495 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearin... |
OMIM:300373 |
| Zimmermann-Laband Syndrome |
|
Telecanthus, Wide nose, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Bulb... |
ORPHA:3473 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... |
ORPHA:87 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... |
OMIM:265380 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Radial head subluxation, Short toe, Wide ... |
OMIM:614078 |
| Grant Syndrome |
|
Joint dislocation, Frontal bossing, Depressed nasal bridge, Micrognathia, Open bite, Large fontan... |
ORPHA:2097 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Flat occiput, Abnormally large globe, Broad nasal tip, Micrognathia, Al... |
ORPHA:1655 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Diastema... |
OMIM:301040 |
| Mulibrey Nanism |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypo... |
OMIM:253250 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly... |
ORPHA:83 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ears, Abnormal pinna morph... |
OMIM:617694 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thym... |
ORPHA:567 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Sparse eyebrow, Scap... |
ORPHA:459061 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Prominent met... |
OMIM:616580 |
| Brooke-Spiegler Syndrome |
|
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the neck... |
ORPHA:79493 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Telecanthus, Micrognathia, Abnormality of the dentition, Sensorineural hearing impair... |
ORPHA:85321 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Limited elbow movement, Micrognathia, Synophrys, Brachycephaly, Downturned corners... |
OMIM:610759 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... |
OMIM:306955 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Short philt... |
ORPHA:2707 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Apnea, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermi... |
OMIM:619797 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... |
OMIM:608257 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:130720 |
| Tetrasomy 5P |
|
Respiratory distress, Epicanthus, Midface retrusion, Posteriorly rotated ears, Anteverted nares, ... |
ORPHA:3309 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Depressed nasal bridge, High, narrow palate, Optic atrophy, Brachycephaly, Dow... |
OMIM:608027 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Epicanthus, Macrodontia, Small hand, Obesity, Short foot, High palate, Short 5th finger, Cubitus ... |
OMIM:300577 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Abnormal pinna morphology, Ante... |
OMIM:610253 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Acrocephalopolydactyly |
|
Epicanthus, Genu recurvatum, Oxycephaly, Depressed nasal ridge, Microtia, Limb undergrowth, Prema... |
ORPHA:221054 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Epicanthus, Turricephaly, Posteriorly rotated ears, Small for gestational age, C... |
OMIM:613174 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Conductive he... |
OMIM:280000 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Failure to thrive, Wide nose, Flat occiput, Prominent nasal bridge, Hig... |
ORPHA:505237 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... |
ORPHA:958 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Micrognathia, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Abnormal heart morpholo... |
OMIM:214110 |
| Trisomy 13 |
|
Preauricular pit, Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Prea... |
ORPHA:3378 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion, EEG abnormality, Short ... |
ORPHA:1858 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Aspiration, Pe... |
OMIM:618651 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Abnormality of th... |
ORPHA:502 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Anteverted na... |
OMIM:618342 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Flat occiput, Depressed nasal bridge, Highly arched eyebrow, Open mouth, Supernumerar... |
OMIM:617412 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineural hearing impa... |
ORPHA:560 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Micrognathia, Broad nasal tip, Diastema, Brachycephaly, Long eyelashes... |
OMIM:609757 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:228390 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Brachycephaly, High palate, Depressed nasal bridge, Wide nasal bridge, EEG a... |
OMIM:612513 |
| German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heari... |
ORPHA:2077 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Widel... |
OMIM:619719 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro... |
OMIM:618644 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... |
OMIM:601808 |
| Abruzzo-Erickson Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Short toe, Cleft palate, Radioulnar synostosis, Con... |
ORPHA:921 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Mi... |
ORPHA:1488 |
| Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Frontal bossing, Micrognathia, Aplasia/Hypoplasia of ... |
ORPHA:3082 |
| Autosomal Recessive Omodysplasia |
|
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Micrognathia, Elbo... |
ORPHA:93329 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Dental crowding, Micrognath... |
OMIM:619941 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the... |
ORPHA:776 |
| Ring Chromosome 8 Syndrome |
|
Frontal bossing, Epicanthus, Anteverted nares, Round ear, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Preauricula... |
OMIM:113650 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Brachycephaly, Bilater... |
OMIM:264470 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Short neck, Bilateral cryptorchidism, Sensor... |
OMIM:300472 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... |
ORPHA:453499 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Micrognathia, Carious teet... |
OMIM:190350 |
| Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormality of the neck, Atrial septal defect, Chronic... |
ORPHA:96167 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Persistent open anterior fontanelle, Telecanthus, Dental crowding, Brachycephaly... |
OMIM:615539 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Bifid uvula, Anteverted ... |
ORPHA:404440 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Brachycephaly, W... |
OMIM:613451 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Flat occiput, Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Abnormalit... |
ORPHA:251028 |
| Chromosome 5Q12 Deletion Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Short neck, Micrognathia, Patent ductus arte... |
OMIM:615668 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, ... |
ORPHA:1597 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen... |
ORPHA:52055 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Den... |
OMIM:617883 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft palate, Hypoplasia... |
ORPHA:1812 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Epicanthus, Pursed lips, Micrognathia, Narrow mouth, Wide nasal bridge, Respiratory... |
ORPHA:562528 |
| Char Syndrome |
|
Patent ductus arteriosus, Protruding ear, Short philtrum, Low-set ears, Triangular mouth |
OMIM:169100 |
| Stevenson-Carey Syndrome |
|
Prominent nasal tip, Posteriorly rotated ears, Central hypoventilation, Anteverted nares, Underde... |
OMIM:611961 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing... |
ORPHA:364577 |
| Prolidase Deficiency |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormality of the middle ear, Hea... |
ORPHA:742 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Abnormally large globe, Dyspnea, U... |
ORPHA:435628 |
| Noonan Syndrome 4 |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Large for gestational age, Sparse e... |
OMIM:610733 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia,... |
ORPHA:246 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Failure to thrive, Anteverted nares, Highly arched eyebrow,... |
OMIM:243310 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Epicanthus, Abnormal pinna morphology, Synophrys, Obesity, Wide nasal b... |
ORPHA:352530 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Conductive hearing impairment, Short 5th metaca... |
OMIM:311300 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Deep philtrum, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, De... |
OMIM:206920 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Retro... |
OMIM:618142 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Carious teeth, Deep philtrum, Ab... |
ORPHA:2701 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Microtia, Low-se... |
OMIM:601088 |
| Ohdo Syndrome |
|
Smooth philtrum, Epicanthus, Anteverted nares, Depressed nasal bridge, Hearing impairment, Microg... |
OMIM:249620 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Brachycephal... |
ORPHA:314575 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa... |
OMIM:608363 |
| Developmental And Epileptic Encephalopathy 63 |
|
Thin upper lip vermilion, Highly arched eyebrow, Bulbous nose, EEG with generalized epileptiform ... |
OMIM:617976 |
| Keppen-Lubinsky Syndrome |
|
