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 |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Abnormally large globe, Underdevel... |
OMIM:614098 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Posteriorly rotated ears, Dental ... |
ORPHA:2789 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Trismus, De... |
OMIM:227330 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Failure to thrive in infancy, Optic nerve hypoplasia, Hig... |
OMIM:620155 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi... |
OMIM:613670 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck,... |
ORPHA:1780 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Anteverted nares, Highly arched eyebrow, Abnormality of cartilage ... |
ORPHA:324313 |
Lambert Syndrome |
|
Ventricular septal defect, Preauricular skin tag, Wide mouth, Branchial anomaly, Malar flattening |
ORPHA:1296 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zy... |
ORPHA:1798 |
Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotated ears, Depressed nasal br... |
OMIM:616708 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... |
ORPHA:1703 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone |
ORPHA:710 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Con... |
OMIM:613309 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Protruding ear, Choanal stenosis,... |
OMIM:259775 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Short neck, Wide anterior fontanel, Patent ductus arteri... |
OMIM:606003 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Deep philtrum, High palate, Absent eyebrow, Anteverted nares, Depressed nasal bridg... |
OMIM:115150 |
Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Thick lower lip vermilion... |
ORPHA:2135 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Failure to thrive in infancy, Den... |
OMIM:618975 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Prominent metopic ridge, Dolichocephaly, Low hanging colu... |
OMIM:619721 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Synophrys, Velo... |
OMIM:182290 |
Down Syndrome |
|
Redundant neck skin, Atrial septal defect, Conductive hearing impairment, Atrioventricular canal ... |
OMIM:190685 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Epicanthus, Dental malocclusion |
OMIM:619692 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Takenouchi-Kosaki Syndrome |
|
Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Highly arched eyebro... |
OMIM:616737 |
Toriello-Carey Syndrome |
|
Short neck, Micrognathia, Anteriorly placed anus, Anotia, High palate, Thickened helices, Neonata... |
ORPHA:3338 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Midface retrusion, Congenital hip dislocation, Anteverted nares, Carious teeth, ... |
OMIM:219200 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Conductive hearing impairment, Agl... |
OMIM:202650 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Neonatal respiratory distress, Short humerus, Rhizomelia, Hypoplastic sca... |
OMIM:602471 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Tre... |
ORPHA:480907 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Abnormally large globe, Synophrys, Optic atrophy, Protruding ear, High palate, Broad alveolar ridges |
OMIM:300004 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid... |
ORPHA:261144 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Bicuspid aortic valve, Ventri... |
ORPHA:508498 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Sensori... |
ORPHA:1520 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Mala... |
ORPHA:1919 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:352665 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... |
OMIM:612938 |
Meier-Gorlin Syndrome 6 |
|
Depressed nasal ridge, Conductive hearing impairment, Emphysema, Microretrognathia, Anteverted na... |
OMIM:616835 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearin... |
OMIM:109120 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Anteverted nares, Abnormal den... |
ORPHA:1458 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Preauricular pit, Maternal diabetes, Abnormality of the middle ear ossicles, Preauricular skin ta... |
ORPHA:2549 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, ... |
OMIM:618371 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb hypertonia, High... |
OMIM:619995 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Patent ductus arteriosu... |
ORPHA:11 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Short ... |
ORPHA:819 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Wide anterio... |
OMIM:207410 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, EEG with burst suppression, Deep ph... |
ORPHA:329178 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... |
OMIM:214800 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Apnea, Micrognathia, Thin calvarium, Shallow orbits, Short nose, Downslanted pal... |
ORPHA:1129 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Lacrimal duct stenosis, Carious teeth, Periorbital d... |
OMIM:615560 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Protruding ear, High palate, Prominent metopic ridge, Facial palsy, Sparse eyebrow... |
ORPHA:261349 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Torticollis, Contracture of the proximal interphalangeal joint... |
ORPHA:2872 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Facial palsy, Choanal atresia, Carious teeth, Absent eyelashes, Bulbous nose, Ano... |
ORPHA:2316 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Frontal bossing, Short metacarpal, Depressed nasal bridge, Camptodacty... |
OMIM:612350 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Narrow palpebral fissure, Short... |
OMIM:615071 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Camptodactyly of finger... |
ORPHA:251056 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Micrognathia, Brachycephaly, Absent eyebrow, Abnormal dental morpholo... |
ORPHA:85199 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Knee flexion contracture, High palate,... |
OMIM:193700 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Brachycephaly, Cleft ... |
OMIM:156610 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Abnormal dental enamel morphology, ... |
ORPHA:96263 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Short metatarsal, Brachycephaly, Protruding ear, High palate, Promi... |
ORPHA:96148 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Br... |
ORPHA:66625 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Small for gestational age, Micrognathia, R... |
ORPHA:3078 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Decreased nerve condu... |
OMIM:616652 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Highly arched eyebr... |
OMIM:600430 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Neonatal respiratory distress, Redundant neck skin, Mitral atresia, P... |
OMIM:618164 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Midface retrusion, Depressed nasal bridge, Micrognathia, Progressive h... |
OMIM:613849 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font... |
OMIM:617802 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:1295 |
Trisomy 10P |
|
Micrognathia, Abnormality of the ear, Orofacial cleft, EEG with focal spikes, High palate, Abnorm... |
ORPHA:171929 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Protruding ear, Widely sp... |
OMIM:612474 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Low-set ears... |
OMIM:619189 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Congenital Myopathy 19 |
|
Posteriorly rotated ears, Hearing impairment, Micrognathia, Respiratory insufficiency due to musc... |
OMIM:618578 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, High palate, Conductive hearing impairment, Prem... |
OMIM:102500 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Micrognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachyce... |
ORPHA:435638 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Mi... |
ORPHA:1716 |
Non-Distal Duplication 13Q |
|
Micrognathia, Abnormal eyelash morphology, Abnormality of the dentition, Synophrys, Aplasia/Hypop... |
ORPHA:1702 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short metacarpal, Small for gestati... |
OMIM:101800 |
8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Sensorineural hearing impairment, Wide nasal brid... |
ORPHA:228399 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Episodic tachypnea, Thick nasal alae, Micrognathia, Ap... |
ORPHA:163961 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Posteriorly rotated ears, Anteverted nares, Micrognathia, Synophrys, Large fonta... |
OMIM:602562 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... |
ORPHA:2712 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairm... |
OMIM:605627 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Upsl... |
OMIM:613544 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Synophrys, Short philtrum, Obesity, Wide nasal bridge, Hypoplasia of teeth, Microti... |
OMIM:620250 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High palate, Short ... |
OMIM:619148 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pterygium,... |
OMIM:619339 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Brachycephaly, Abnormal optic disc morphology, Short philtr... |
ORPHA:96121 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ... |
ORPHA:904 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Brachycephaly, High palate, Bifid uv... |
OMIM:211380 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Tremor, Depressed nasal ridge, Brachycephaly, Chronic ... |
ORPHA:96264 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Genu recurvatum, Apnea, Anteverted nares, Depresse... |
OMIM:617301 |
17Q24.2 Microdeletion Syndrome |
|
Micrognathia, Synophrys, Short philtrum, Abnormality of the wrist, Wide nasal bridge, Microtia, P... |
ORPHA:529962 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Anteverted nares, Phalangeal dislocation, Rhizomelia, Micrognathia, Elbow disloc... |
OMIM:264180 |
Oculoskeletodental Syndrome |
|
Epicanthus, Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Sensorineural... |
ORPHA:557003 |
Myopathy, Myofibrillar, 8 |
|
Reduced vital capacity, Micrognathia, Dental malocclusion, Restrictive ventilatory defect, High p... |
OMIM:617258 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Intercrural pte... |
OMIM:265000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Epicanthus, Telecanthus, Exaggerated startle resp... |
ORPHA:438216 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Epicanthus, Abnormal pinna morphology, Camptodactyly of finge... |
ORPHA:261211 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Hypoplasia of the ulna, Anteverted ... |
ORPHA:950 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Sensorineural he... |
OMIM:220500 |
Trisomy 17P |
|
Skeletal muscle atrophy, Short neck, Micrognathia, Narrow mouth, Patent ductus arteriosus, Flexio... |
ORPHA:261290 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... |
ORPHA:284169 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C... |
OMIM:300946 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion ... |
OMIM:616420 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Increased overbite, Abnormally large globe |
OMIM:618504 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Hypoplastic nasal septum, Short philtrum, Lower limb undergrowth, C... |
OMIM:186500 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Hearing impairment, Micrognathia, Dolichocephaly, Bulbous nose, Dent... |
OMIM:606232 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
Frontoocular Syndrome |
|
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Trigonocephaly, Micrognathia, Narro... |
OMIM:605321 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Midface retrusion, Brachycephaly, Hearing impairment |
ORPHA:35099 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Cupped ear |
ORPHA:93945 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Low-s... |
OMIM:618330 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Preauricular pit, Abnormal pinna mor... |
ORPHA:50815 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Micrognathia, Brachycephaly, High palate, Neonatal respiratory distre... |
OMIM:244450 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Prominen... |
OMIM:300280 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, ... |
OMIM:619873 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxil... |
OMIM:180849 |
Tetrasomy 15Q26 |
|
Microretrognathia, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch, High palate, Lo... |
OMIM:614846 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Depressed nasal bridge, Rhizomelia, Micrognathia, Sensorineural hearing impairme... |
OMIM:215100 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short neck, Hyposegmentation of neutrophil nuclei, Optic atrophy, Thin vermilion border, Hypoplas... |
OMIM:614800 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Abnormally large globe, Brachycephaly, Cleft palate, Short ri... |
OMIM:200610 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Narrow nasal bridge, Telecanthus, Epicanthus, Thick eyebrow, Anteverted nar... |
OMIM:619383 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Increased body weight, High palate, Otitis media, Con... |
OMIM:117550 |
Martsolf Syndrome 1 |
|
Short palm, Epicanthus, Short metacarpal, Posteriorly rotated ears, Depressed nasal bridge, Micro... |
OMIM:212720 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol... |
ORPHA:2306 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Genu recurvatum, Slender build, Uplifted earlobe, Brachycephaly, Narrow pa... |
ORPHA:364028 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Large ... |
OMIM:606851 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c... |
ORPHA:1997 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Micrognathia, Abnormality of the gingiva, Anteriorly placed anu... |
ORPHA:798 |
17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, Congenital hip dislocation, High palate, Low-set ears, Narrow mouth, ... |
ORPHA:217385 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Short nos... |
ORPHA:438178 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Coarctation of aorta, Abnormal heart... |
ORPHA:2209 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Protru... |
OMIM:156200 |
6P22 Microdeletion Syndrome |
|
Short neck, Patent ductus arteriosus, Low-set ears, Overfolded helix, Abnormal palate morphology,... |
ORPHA:251046 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Downturned corners of mouth, Anteverted nares, Depressed nasal bridge, Cleft lip, W... |
OMIM:616894 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Epicanthus, Tented upper lip vermilion, Thick lower lip v... |
OMIM:615828 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Conductive h... |
ORPHA:2462 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, Posteriorly rotated ears, Wide anterior fontanel, Brachycephaly, High palate, Low-set ... |
OMIM:239710 |
Trisomy 12P |
|
Epicanthus, Turricephaly, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mo... |
ORPHA:1699 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal... |
OMIM:300260 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... |
OMIM:615009 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Protrud... |
OMIM:242860 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Telecanthus, Abnormal pinna morphology, Ante... |
OMIM:217980 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Brachycephaly, Diastema, Gingival overgrowth, Low-set ears, Retrognathia, ... |
OMIM:212066 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory trac... |
OMIM:614069 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:300712 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorine... |
OMIM:618652 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, High palate, Wrist flexion contracture, Long philtrum, Low-set, ... |
ORPHA:800 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Tremor, Synophrys, Oligodontia, High palate, Short philtrum, Depre... |
OMIM:617061 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... |
ORPHA:989 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, Patent ductus... |
OMIM:608799 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion |
ORPHA:2776 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Ectopic posterior pituitary, Short neck, Cleft maxillary al... |
ORPHA:508488 |
Noonan Syndrome 2 |
|
Short neck, Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Crypt... |
OMIM:605275 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Down Syndrome |
|
Depressed nasal ridge, Brachycephaly, Abnormality of the fontanelles or cranial sutures, Downturn... |
ORPHA:870 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Thin upper lip vermilion, Neonatal respirat... |
ORPHA:457193 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Oti... |
OMIM:612541 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Wide nose, Flat occiput, Hypoplasia of the ulna, Micrognathia, Synophry... |
ORPHA:357175 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap... |
OMIM:619503 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Hypothyroidism, Pa... |
ORPHA:293939 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Dental malocclusion, Torus palatinus |
OMIM:144750 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Short palm, Prominent metopic ridge, Tented upper lip vermilion, Posteriorly rotated ears, Anteve... |
OMIM:619320 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Micrognathi... |
OMIM:606164 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Prominent... |
ORPHA:2083 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Thickened calvaria, Protruding ear, Thick nasal septum, High palate, Widel... |
OMIM:303600 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, ... |
OMIM:613320 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Posteriorly rotated ears, Facial palsy, Anteverted nares, Hip... |
OMIM:301041 |
Zimmermann-Laband Syndrome 3 |
|
Patent ductus arteriosus, Thick lower lip vermilion, Flexion contracture, Gingival overgrowth, Hi... |
OMIM:618658 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Wide nose, Flat occiput, Hypoplasia of the ulna, Micrognathia, Synophry... |
OMIM:615162 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Preauricular pit, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:612582 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
Trisomy 20P |
|
Micrognathia, Brachycephaly, Protruding ear, Downturned corners of mouth, Short philtrum, Microdo... |
ORPHA:261318 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... |
OMIM:603457 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, Fatigable w... |
ORPHA:166108 |
Cdags Syndrome |
|
Frontal bossing, Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Parietal... |
OMIM:603116 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... |
OMIM:615485 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Camptodactyly o... |
ORPHA:261337 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent du... |
ORPHA:1120 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Micrognathia, Pate... |
OMIM:121050 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Synophrys, Wide mouth, Truncal obesity, Short ph... |
ORPHA:2429 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Diabetes insipidus, Epistaxis, Cough, Mediastinal lymphadenopathy, Verti... |
ORPHA:397 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Anteverted nares, Rhizome... |
OMIM:611209 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Synophrys, ... |
OMIM:300143 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Upper eyelid... |
ORPHA:2095 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cario... |
ORPHA:96097 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Sparse eyelashes, Dental crowding, Delayed closure of th... |
OMIM:614008 |
Peho-Like Syndrome |
|
Epicanthus, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia, Open mouth |
OMIM:617507 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... |
OMIM:249670 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Depressed nasal bridge, Low-set ears, Conductive hearing impairment, Short nose, Flat... |
OMIM:616910 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Epicanthus, Small for gestational age, Depressed nasal bridge, Craniosynostosis,... |
OMIM:614114 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Synophrys, Brachycephaly, Hypopl... |
OMIM:619512 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Sensorineural ... |
OMIM:616602 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Sensorineural hearing impairment, Microtia, Hypoplasia of the zygomatic bone,... |
OMIM:618500 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Epicanthus, Aplasia/Hypoplasia of the thumb, Failure to thr... |
ORPHA:1225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Microphthalmia, Sensorineural hearing impairmen... |
OMIM:615249 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Low-s... |
OMIM:612626 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Abnormal eyelid morphology, Orofacial cleft, High palate, Conduc... |
ORPHA:2990 |
Feingold Syndrome 1 |
|
Accessory spleen, Posteriorly rotated ears, Ventricular septal defect, Tricuspid stenosis, Microg... |
OMIM:164280 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Short neck, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Anteverted nares, Depre... |
ORPHA:97360 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... |
ORPHA:3019 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, ... |
OMIM:616364 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Posteri... |
OMIM:618430 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Hearing abnormality, Patent ductus arteriosus, Abnormal cardiac sep... |
ORPHA:2412 |
17P11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Wide mout... |
ORPHA:1713 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Posteriorly rotated e... |
OMIM:620001 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Wide nasal bridge, Respiratory insufficiency, Cleft pal... |
OMIM:618388 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Macrotia, Brachycephaly, Narrow mouth, Malar flattening, Failure to thrive |
DECIPHER:45 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent ductus arterio... |
OMIM:613870 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Patent ductus arteriosus, Redundant neck skin, Low-set ears |
OMIM:610498 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Complet... |
OMIM:619343 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Thickened calvaria, Hypoplasia of the maxilla, Upper lim... |
ORPHA:1299 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Hypoplasia of the premaxilla, Pro... |
ORPHA:2673 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal muscular a... |
OMIM:616866 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Protruding ear, Knee flexion contractu... |
OMIM:614976 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Micrognathia, Microdontia, Knee flexion contracture, Upslanted palpe... |
OMIM:619694 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Downturned corner... |
ORPHA:247262 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Underdeveloped nasal alae, Upper eyel... |
OMIM:613456 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Almond-shaped pa... |
ORPHA:171829 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Optic atrophy, Retrognath... |
ORPHA:561 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Low-set ears, Dolichocepha... |
OMIM:615433 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed nasal bridge, ... |
OMIM:608156 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hea... |
ORPHA:500159 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Tented upper lip vermilion, Posteriorly rotated ears, Depressed na... |
OMIM:619833 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Epicanthus inversus, Brachycephaly, Protruding ear, Oligodontia, High palate, Short... |
OMIM:309590 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Long eyebrows, Cleft upper lip... |
OMIM:201180 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Neonatal insulin-dependent diabetes mellitus, Hypo... |
ORPHA:556955 |
Neu-Laxova Syndrome 1 |
|
Short neck, Micrognathia, Swollen lip, Neonatal death, Patent foramen ovale, Spina bifida, Cleft ... |
OMIM:256520 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Microtia, Microphthalmia, Short nose |
ORPHA:2547 |
Temtamy Syndrome |
|
Telecanthus, Micrognathia, Short toe, Thick lower lip vermilion, Low-set ears, Dolichocephaly, Mi... |
ORPHA:1777 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Micrognathia, Hypoplasia of the maxilla, Splenomegaly... |
OMIM:608149 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... |
ORPHA:1307 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Brachycephaly, Long eyelashes, Short nose, Thick eyebrow |
ORPHA:1514 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Brachycephaly, Plagioce... |
ORPHA:53271 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Exaggerated cupid's bow, Facial hypotonia, Micrognathia, Prominent ear helix, Patent ductus arter... |
OMIM:618659 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Micrognathia, High, narrow palate, High palate, Neonatal respiratory distress, Ante... |
OMIM:214100 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Full cheeks, Low-se... |
ORPHA:276422 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Telecanthus, Depressed nasal bridge, Facial palsy, Sensorineural heari... |
ORPHA:1522 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Epicanthus, Apnea, Episodic tachypnea, Highly... |
ORPHA:2754 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted ... |
ORPHA:1915 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Synophrys, Brachycephaly, Hig... |
OMIM:213980 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Epicanthus, Dolichocephaly, Cleft lip, Bulbous nose, Deep phi... |
OMIM:618571 |
Distal Triplication 15Q |
|
Micrognathia, Sensorineural hearing impairment, Cupped ear, Patent ductus arteriosus, Hypoplastic... |
ORPHA:314588 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Optic atrophy, Brachycephaly, Narrow palate, Ankle clonus, Downturned corners of mo... |
OMIM:614222 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Uplifted earlobe, Large for gestational age, Abnormality of the dentition, Thick low... |
ORPHA:261652 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology |
OMIM:246560 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Anteverted... |
ORPHA:2729 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Short palm, Epicanthus, Anteverted nares, Craniosynostosis, External ear mal... |
ORPHA:254346 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia, Malabsorption, Patent ductus arteriosus, Abnormal c... |
ORPHA:99811 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Sparse eyelashes, Anteverted nares, Micrognathia, Carious teeth, Sparse eyebro... |
OMIM:613026 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... |
OMIM:301043 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Frontal bossing, Posteriorly rotated ears, Failure to thrive in infancy, Anteverted nares, Microg... |
OMIM:618829 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, Protruding ear,... |
ORPHA:236 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality ... |
ORPHA:513456 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Absent eyel... |
OMIM:106260 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Full cheeks, Microtia, Thickened helices, Malar flattening |
ORPHA:261295 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Synophrys, Deep philtrum, Protruding ear, Short philtrum, Joint contracture of the 5th finger, De... |
OMIM:620098 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Microtia, Short 5th finger, Atresia... |
OMIM:239800 |
Restrictive Dermopathy |
|
Multiple joint contractures, Micrognathia, Atrial septal defect, Patent ductus arteriosus, Tempor... |
ORPHA:1662 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra... |
OMIM:267000 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Short philtrum, Foot oligodactyly, Synostosis of... |
ORPHA:3258 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Failure to thrive, Narrow nasa... |
OMIM:219150 |
X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Neutropenia, Patent foramen ovale, Preauricular pit, ... |
ORPHA:163956 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Decreased serum insulin-like growth factor 1, Decreased response to growth ... |
ORPHA:363528 |
White-Kernohan Syndrome |
|
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Epicanthus inversus, Simple ear, Ant... |
OMIM:619426 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosis, Malar flat... |
OMIM:218350 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Patent ductus arteriosus, Low-set ears, Aortic valve stenosis, Vascular dilata... |
OMIM:220220 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Short palm, Conductive hearing impairment, Depressed nasal bridge, ... |
OMIM:235510 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Protruding ear |
OMIM:618302 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... |
OMIM:309801 |
Mohr Syndrome |
|
Short palm, Telecanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micro... |
OMIM:252100 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... |
ORPHA:329224 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Anteverted nares, Hearing impairment,... |
ORPHA:1620 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Rectal prolapse, Hypoplasia of t... |
OMIM:613177 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Highly arched eyebrow, Dep... |
OMIM:615866 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Synophrys, Glossoptosis, Choanal stenosis, Short philtrum, Aspiration... |
OMIM:602535 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Brachycephaly, Microtia... |
OMIM:616854 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Ventricular septal defect, Thick lower lip ver... |
OMIM:612946 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal musc... |
OMIM:616867 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Epicanthus, Wide nose, Small for gestational age, Anteverted nares, Mic... |
ORPHA:391408 |
Monosomy 9P |
|
Micrognathia, Synophrys, Brachycephaly, Anotia, High palate, Anteverted nares, Depressed nasal br... |
ORPHA:261112 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Upslan... |
OMIM:613680 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ... |
ORPHA:2745 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Brachycephaly, Oligodontia, ... |
OMIM:612289 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, Brachycephaly, Downturned corners o... |
ORPHA:261494 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
Harrod Syndrome |
|
Long nose, Dental malocclusion, Protruding ear, High palate, Narrow mouth, Failure to thrive |
ORPHA:2115 |
Trisomy 1Q |
|
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h... |
ORPHA:261344 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
ORPHA:163979 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Mesomelic arm s... |
OMIM:171480 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Short neck, Patent d... |
ORPHA:2328 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,... |
ORPHA:261102 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Cleft Velum |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media |
ORPHA:99772 |
Congenital Myopathy 13 |
|
Telecanthus, Hypercapnia, Micrognathia, Conductive hearing impairment, Brachycephaly, Cleft palat... |
OMIM:255995 |
Sclerosteosis 1 |
|
Mandibular prognathia, Papilledema, Frontal bossing, Depressed nasal bridge, Facial palsy, Dental... |
OMIM:269500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Epicanthus, Hearing impairment, Micrognathia, Cachexia... |
OMIM:618186 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cleft lip, Patent ductus arteriosus, Splenomegaly, High palate, Low-set ears, ... |
OMIM:251290 |
Gapo Syndrome |
|
Frontal bossing, Epicanthus, Sparse eyelashes, Facial palsy, Delayed closure of the anterior font... |
OMIM:230740 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Almond-shaped palpebral fissure, Cleft lip, Flared nostrils, Pierre-Rob... |
OMIM:619504 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Telecanthus, Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge,... |
ORPHA:1974 |
Fibrochondrogenesis 1 |
|
Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Anteverted nares, Depr... |
OMIM:228520 |
Fg Syndrome 5 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Meto... |
OMIM:300581 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Brachycephaly, Hypsarrhythmia, ... |
OMIM:620240 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Wide nasal bridge, Alveolar ... |
ORPHA:444072 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Atrial septal defect, Severe sensorine... |
OMIM:620186 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Epicanthus, Frontal bossing, Camptodactyly ... |
ORPHA:2994 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Sensorineural hearing impairment, Short nose, Failure to thrive, Midface ret... |
OMIM:618379 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Sensorineural hearing impairment, Obesity, Brachyc... |
ORPHA:2377 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Craniosyn... |
ORPHA:2136 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, Patellar h... |
OMIM:114290 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Epicanthus, Thick eyebrow, Failure to thrive, High, narrow palate, Bulbous nos... |
ORPHA:485405 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Symphalangism of the 4th finger, Finger ... |
ORPHA:3246 |
Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Preauricular pit, Patent ductus arteriosus, Total anomalous p... |
OMIM:115470 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger,... |
OMIM:244300 |
Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Small for gestat... |
ORPHA:488437 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Thickened heli... |
OMIM:617506 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneum... |
ORPHA:444077 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Midface retrusion, Protruding ear |
OMIM:618737 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosi... |
OMIM:253800 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Camptodactyly of finger, Premature closure of fontanelles, Micrognathia... |
OMIM:610758 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Esophageal atresia, Sensorineural hearing impa... |
ORPHA:391641 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Mixed hearing impairment, Telecanthus, Abnormal nasopharynx morphology, Fa... |
OMIM:218400 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Sho... |
OMIM:300514 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Triangular face, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Plat... |
OMIM:259420 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underde... |
ORPHA:306542 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Sensorineural hearing impairment, Patent ductus... |
OMIM:617751 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2962 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent d... |
ORPHA:354 |
Zaki Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosus, Cupped ear, Wide mouth, ... |
OMIM:619648 |
Martin-Probst Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilio... |
OMIM:300519 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Rhizomelia, Micrognathia, Large fontanelles, Wide nasal bridge... |
ORPHA:93267 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Optic nerve hypoplasia, Depressed nasal b... |
ORPHA:357001 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Monosomy 18Q |
|
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner... |
ORPHA:1600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Micrognathi... |
OMIM:309520 |
Mend Syndrome |
|
Telecanthus, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Asymmetry... |
ORPHA:401973 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Dental crowding, Malformed lacrima... |
OMIM:219000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Wide mouth, Low-set ears... |
OMIM:608776 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Brachycephaly, Widely spaced teeth, Decreased body weight, Am... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Epicanthus, Prominent metopic ridge, Anteverted nares, Depressed nasal ... |
OMIM:619188 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Frontal bossing, Carious teeth,... |
ORPHA:377 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Median cleft lip, Orofacial cleft, Atresia of the external ... |
ORPHA:3186 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, High palate, Thick... |
OMIM:620113 |
Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture... |
OMIM:300166 |
Ravine Syndrome |
|
Failure to thrive, Apnea, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ... |
OMIM:310400 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Depressed nasal bridge,... |
OMIM:145420 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Large for gestational age, Abno... |
OMIM:615398 |
Zellweger Syndrome |
|
Epicanthus, Flat occiput, Depressed nasal bridge, Micrognathia, External ear malformation, Wide a... |
ORPHA:912 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa... |
OMIM:164210 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Cloverleaf skull, Depre... |
OMIM:101600 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Hearing impairment, Cleft upper lip, Brachycephaly, Cleft palate, Eyelid c... |
OMIM:268850 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Aplasia/Hypoplasia... |
ORPHA:264450 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Hypoplasia of the maxilla, Micrognathi... |
OMIM:601812 |
Branchiootic Syndrome 1 |
|
Preauricular pit, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal,... |
OMIM:602588 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Conical tooth,... |
OMIM:263750 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Postauricular pit, Atrial septal defect, ... |
OMIM:312870 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Patent foramen ovale, Cryptorchidi... |
OMIM:618454 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Telecanthus, Abnormal pinna morphology, Epistaxis, Highly arched eyebrow... |
ORPHA:495818 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Abnormality of the fontanelles or cranial sutur... |
ORPHA:2108 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Webbed neck, Ple... |
OMIM:615355 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... |
OMIM:314390 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Dislocated radial head, Ve... |
OMIM:268310 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Cachexia, Micrognathia, Wide nasal bridge, Abnormal antih... |
ORPHA:1438 |
Aymé-Gripp Syndrome |
|
Brachycephaly, Oligodontia, Shallow orbits, Prominent metopic ridge, Depressed nasal bridge, EEG ... |
ORPHA:1272 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Microdontia, Unilateral narrow palpebral fissure, De... |
OMIM:618727 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilledema, Peripheral arter... |
ORPHA:580 |
Larsen Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Large joint dislocations, Accessory carpal bones, Respi... |
ORPHA:503 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
Simosa Craniofacial Syndrome |
|
Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Underdev... |
OMIM:182150 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Brachycephaly, Short foot,... |
ORPHA:93258 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Frontal bossing, Anteverted nar... |
ORPHA:884 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Epicanthus, Tracheomalacia, Micrognathia, Hypoplasia of the maxilla, Conduct... |
ORPHA:314679 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Abnormal fifth cranial nerve morphology, Abnormal morphology of bony ... |
ORPHA:449563 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Sensorineural hearing impairment, Patent ductus arte... |
ORPHA:290 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Tented upper lip vermilion, Micrognathia, Knee flexion contracture, Short philtrum, Low-set, post... |
ORPHA:371364 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Broad... |
ORPHA:2710 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Alg9-Cdg |
|
Micrognathia, Brachycephaly, Large fleshy ears, Shallow orbits, Bifid uvula, Microretrognathia, L... |
ORPHA:79328 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Microtia, Hypoplasia of the zygom... |
ORPHA:920 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding... |
OMIM:618797 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Wide nasal bridge, Br... |
ORPHA:521445 |
C Syndrome |
|
Epicanthus, Short metacarpal, Posteriorly rotated ears, Anteverted nares, Accessory oral frenulum... |
OMIM:211750 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Epicanthus, Sparse eyelashes, Depressed nasal bridge, Sagittal craniosynostosis, Mic... |
OMIM:616901 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Scapular winging, Short neck, Micrognathia, Cryptorchidism, Sensorineur... |
OMIM:609625 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, High palate, Brow ptosis, Exaggerated cupid's bow, Highly arched eyebrow... |
OMIM:605130 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Slender build, Limb tremor, Interictal epileptiform activity |
OMIM:300699 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Cleft soft palate, Micrognathia, Bro... |
OMIM:618529 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, High, narrow palate, Synophrys, Brachycephaly, Downturned corners of mo... |
OMIM:122470 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Cu... |
OMIM:612863 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced... |
ORPHA:487796 |
Ritscher-Schinzel Syndrome 4 |
|
Premature anterior fontanel closure, Hip dislocation, Wide nasal bridge, Narrow palate, Brachycep... |
OMIM:619435 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Frontal bossing, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Short fourth met... |
OMIM:616723 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Brachycephaly, Anteverted nares, Wide anterior fontanel, Super... |
ORPHA:96149 |
Developmental And Epileptic Encephalopathy 64 |
|
Smooth philtrum, Paroxysmal dystonia, Epicanthus, Thin upper lip vermilion, Anteverted nares, Dep... |
OMIM:618004 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Congenital diaphragmatic he... |
OMIM:300887 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Dental malocclusion, Elbow flexion con... |
ORPHA:2920 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Obesity, Cleft palate, Platybas... |
ORPHA:261197 |
Frontofacionasal Dysplasia |
|
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Non-midl... |
ORPHA:1791 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Death in infancy, Patent ductus arteriosus, Retr... |
ORPHA:166272 |
Ssr4-Cdg |
|
Abnormality of upper lip vermillion, Patent ductus arteriosus, Wide mouth, Widely spaced teeth, M... |
ORPHA:370927 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Macrotia, Bulbous nose, Wide nasal bridge, Thin vermilion bor... |
ORPHA:261304 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Choanal atresia, ... |
OMIM:607597 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Rhizomelic arm shortening, Short lower limbs, Abnormally large globe |
ORPHA:96190 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu... |
OMIM:600460 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Pneumonia |
ORPHA:85179 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo... |
OMIM:268400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Epicanthus inversus, Protruding ear, Microdo... |
OMIM:613458 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Paten... |
ORPHA:251061 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Small for gestational age, Delaye... |
OMIM:133540 |
Trigonocephaly 1 |
|
Epicanthus, Craniosynostosis, High, narrow palate, Synophrys, Wide nasal bridge, Upslanted palpeb... |
OMIM:190440 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ... |
OMIM:300558 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Frontal bossing, Abnormal pinna morphology, Depressed na... |
OMIM:617925 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide anterior fontanel, Patent ductus arteriosus, Atrial septal def... |
OMIM:614886 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormal cardiac sept... |
ORPHA:250989 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta |
OMIM:616069 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Sensor... |
OMIM:222448 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Depressed nasal bridge, Rhizomelia, Condu... |
OMIM:156550 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment, Short palm |
ORPHA:3237 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Spina bifida occ... |
OMIM:135500 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Smooth philtrum, Posteriorly rotated ears, Depressed nasal bridge, Choanal ... |
OMIM:300968 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Cryptorchidism, Patent ductus arteriosus, Deep philtrum, Widely-spaced max... |
ORPHA:404443 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Dental crowding, Sensorineural hearing impairment, Patent ductus arteriosus, Deep philtrum, Hepat... |
ORPHA:397709 |
Otopalatodigital Syndrome Type 2 |
|
Thickened calvaria, Micrognathia, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segme... |
ORPHA:90652 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Orofacial cleft, Cleft palate, Upslanted pal... |
ORPHA:1988 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon... |
OMIM:604757 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Micrognathia, Depressed nasal ridge, Wide mouth, Short foot, Short p... |
ORPHA:163966 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Epicanthus, Rhizomelia, Short metacarpal, Depres... |
ORPHA:2831 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the wrist, Synostosis of carpal bon... |
ORPHA:2496 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Wormian bones, Small for gestational age, Rhizomelia, Tooth agenesis, Decrease... |
OMIM:616229 |
Stickler Syndrome, Type I |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Micrognathia, Osteoarthritis, Sensorineura... |
OMIM:108300 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Normochr... |
OMIM:614857 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Anteverted ears, Multifocal epileptiform discharges, Upslanted palpebral f... |
OMIM:618087 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Bifid uvula |
ORPHA:2669 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, High ... |
OMIM:218600 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Narrow mouth, Brachyc... |
OMIM:601353 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Increased nuchal... |
OMIM:616564 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nonproductive cough, Abnormal cardiac ventricle morphology, Dyspnea, Xerosto... |
ORPHA:85443 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Precocious puberty, Sensorineural hearing impairment, Apla... |
ORPHA:2637 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Triangular face, Epicanthus, Depressed nasal bridge, Micrognathia, Optic... |
OMIM:613457 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Wide nose, Small for gestational age, Hypoplasia of the maxilla, Optic atrophy, Cleft pal... |
OMIM:614261 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wi... |
OMIM:300963 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Cryptorchidism, Patent ductus... |
OMIM:616300 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Brachycephaly, Opisthotonus,... |
OMIM:103050 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Malrotation of col... |
ORPHA:93932 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Patent duct... |
OMIM:617190 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Micrognathia, Obesity, Respirato... |
ORPHA:3191 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Synophrys, Brachycephaly, Knee flexion contracture, High palate, Short philt... |
OMIM:613776 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Micrognathia, Opti... |
OMIM:615042 |
Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Anteverted nares, Prominent n... |
OMIM:608688 |
Thanatophoric Dysplasia |
|
Increased nuchal translucency, Patent ductus arteriosus, Respiratory insufficiency, Low-set ears,... |
ORPHA:2655 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defe... |
OMIM:618494 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal a... |
ORPHA:2059 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ... |
OMIM:300958 |
Diaphanospondylodysostosis |
|
Respiratory distress, Epicanthus, Depressed nasal bridge, Micrognathia, Missing ribs, Large fonta... |
OMIM:608022 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Wide nose, Anteverted nares, Facial palsy, Depressed nasal bridge, Micrognathia, Cari... |
OMIM:272430 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Bilateral ptosis, Deep philtrum, Brachycephaly, Downturned corners of mouth, Do... |
OMIM:618859 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct... |
OMIM:243150 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Increased axial length of the globe |
OMIM:110150 |
Intermediate Osteopetrosis |
|
Abnormal dental morphology, Abnormality of the dentition, Cranial nerve compression, Dental maloc... |
ORPHA:210110 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Anteverted nares, Choreoathetosis, Dystonia |
OMIM:618497 |
Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Carious teeth, Sparse eyebrow, Underdevelo... |
OMIM:604173 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Synophrys, Coronal craniosynostosis, Conductive hea... |
OMIM:257920 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Dyspnea, Patent ductus arteriosus, Protruding ear, Pulmonary arterial hyper... |
ORPHA:261279 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Abnormality of the dentition, Atresia of the external auditory canal, Conductive hearing impairme... |
OMIM:221320 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose, Distichiasis |
ORPHA:2598 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft... |
OMIM:610829 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... |
ORPHA:79345 |
Alagille Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Micrognathia, Long nose, Brachycephaly, Protruding ear, ... |
ORPHA:52 |
Marshall Syndrome |
|
Thickened calvaria, Thick upper lip vermilion, Epicanthus, Midface retrusion, Anteverted nares, D... |
OMIM:154780 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Atrial septal defect, Pro... |
ORPHA:280633 |
Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Brachycephaly, High palate, Widely... |
OMIM:619762 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Wide nose, Posteriorly rotated ears, Small for gestational age, Anteverted nares, Mic... |
OMIM:257300 |
Kbg Syndrome |
|
Tented upper lip vermilion, Synophrys, Brachycephaly, Protruding ear, Widely-spaced maxillary cen... |
OMIM:148050 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Osteogenesis Imperfecta, Type Xi |
|
Triangular face, Protrusio acetabuli, Brachycephaly, Wormian bones, Dentinogenesis imperfecta, He... |
OMIM:610968 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus... |
OMIM:614576 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Frontal bossing, Micrognathia, Optic atrophy, Upslanted palpebral fissure,... |
OMIM:617183 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Feingold Syndrome |
|
Micrognathia, External ear malformation, Esophageal atresia, Sensorineural hearing impairment, Pa... |
ORPHA:1305 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short neck, High, narrow palate, Retrognathia, Low-set ears, Tetralogy of Fallo... |
OMIM:617926 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Epicanthus, Posteriorly rotated ears, Retrognathia, Dolichocephaly, Failure to thrive, Triangular... |
OMIM:617352 |
Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Convex nasal ridge, Highly arched eyebrow, Micrognathia, Hip di... |
OMIM:218340 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Smooth philtrum, Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fo... |
ORPHA:357074 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atrial septal defect, Conductive... |
OMIM:117650 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Craniosynostosis, Mic... |
ORPHA:412069 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Narrow mouth, Flat face, Genu valgum |
OMIM:132450 |
Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Protrusio acetabuli, Limited elbow movement, Micr... |
ORPHA:558 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive ... |
ORPHA:2010 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... |
OMIM:619950 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Conductive hearing impairment, Abnormality of dental color, Aplasia/... |
ORPHA:1006 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Patent ductus arteriosus, Sensorineural hea... |
ORPHA:17 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Epicanthus, Broad nasal tip, Synophrys, Brach... |
ORPHA:3306 |
Silver-Russell Syndrome 3 |
|
Unilateral cryptorchidism, Elbow contracture, Patent ductus arteriosus, Low-set ears, Retrognathia |
OMIM:616489 |
Desmosterolosis |
|
Frontal bossing, Epicanthus, Failure to thrive, Posteriorly rotated ears, Hypoplastic nasal bridg... |
OMIM:602398 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... |
OMIM:619472 |
Frontofacionasal Dysplasia |
|
Telecanthus, Midface retrusion, Underdeveloped nasal alae, Cleft upper lip, Short nose, Brachycep... |
OMIM:229400 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Short philtrum, ... |
OMIM:309500 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Upper airway obstruction, H... |
OMIM:612776 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Deep philtrum, High palate, Shor... |
OMIM:617137 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa... |
OMIM:300215 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Splenomegaly, Patent duc... |
ORPHA:35107 |
Peho Syndrome |
|
Epicanthus, Palpebral edema, Anteverted nares, External ear malformation, Open mouth, Optic atrop... |
ORPHA:2836 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened calvaria, Mandibular pain, Torus palatinus, Conductive hearing impairment, Calvarial os... |
OMIM:607634 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Hearin... |
ORPHA:894 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Macroorchidism, Mitral valve prolapse, Protruding ear, Ascendin... |
ORPHA:908 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Epicanthus, Prominent nose, Micrognathia, Macrotia |
ORPHA:929 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Anophthalmia, Posteriorly rotated ears, Hearing impairment, Micr... |
ORPHA:264200 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Small earlobe, Parietal bossing, Genu v... |
OMIM:264090 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormal pinna morphology, Maternal diabetes... |
OMIM:134780 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Hearing abnormality, De... |
ORPHA:1912 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Anteriorly placed anus, Patent ductus arteriosus, Hypoplastic left heart, Low-set ears |
OMIM:617661 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Long p... |
ORPHA:90653 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
2Q37 Microdeletion Syndrome |
|
Short palm, Frontal bossing, Short metacarpal, Anteverted nares, Depressed nasal bridge, Highly a... |
ORPHA:1001 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Abnormal ear morphology, Ventricular septal defect, Maternal diabetes, Large... |
ORPHA:1708 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Preauricular skin tag, Cryptorchidism, Cleft palate, Abnormal he... |
OMIM:154500 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing i... |
ORPHA:2143 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Abnormal pinna morphology, Anteverted nares, Prominent nasal bridge, Denta... |
OMIM:309583 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Otofaciocervical Syndrome |
|
Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix morphology, High pal... |
ORPHA:2792 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Enlarged joints, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:215150 |
Immunodeficiency 9 |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Myopathy, Hypoplasia of the t... |
OMIM:612782 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Failure to thrive, Posteriorly ... |
OMIM:247200 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Telecanthus, Camptodactyly of finger, Lip pit, Brachyceph... |
ORPHA:1236 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa... |
OMIM:619967 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Frontal bossing, Depressed nasal bridge, Anteverted nares, Promine... |
OMIM:617364 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears, Ventricular s... |
OMIM:269860 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Tongue atrophy, Scapular winging, Facial palsy, Sensorineural hearing im... |
OMIM:158900 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Conductive hea... |
ORPHA:99843 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Brachycephaly, ... |
OMIM:618736 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Upper lip pit, Broad nasal tip, Dee... |
ORPHA:1297 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft pa... |
OMIM:313850 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Epicanthus, Congenital hip dislocation, Short 5th finger, Atresia of the external auditory canal,... |
OMIM:133705 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Retrognathia, Cleft palate, An... |
OMIM:616462 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Neonatal respiratory distress, Scapular winging, Ventricular septal defect, Pa... |
OMIM:618870 |
Distal Monosomy 7Q36 |
|
Micrognathia, Bulbous nose, Non-midline cleft lip, Optic atrophy, Cleft palate, Upslanted palpebr... |
ORPHA:1636 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Neurofibroma |
|
Symmetric spinal nerve root neurofibromas, Peripheral nerve compression, Paraspinal neurofibroma,... |
ORPHA:252183 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Short neck, Spina bifid... |
ORPHA:99776 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg... |
OMIM:616202 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Epicanthus, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, ... |
OMIM:608624 |
Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, High, narrow palate, Patent ductus arteriosus, Cryptor... |
OMIM:616368 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation |
OMIM:620200 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Recurrent joint dislocation, Thin upper lip... |
ORPHA:2953 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Craniosynostosis, Mi... |
ORPHA:369837 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Upslanted palpebral fissure, Pl... |
OMIM:618862 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Anteverted ears, Cryptorchidis... |
OMIM:610443 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Tongue atrophy, D... |
OMIM:601596 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy... |
OMIM:154400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, 11 pairs of ribs, Telecanthus, Depressed nasal bridge, Micrognathia, Wide na... |
OMIM:620073 |
8P11.2 Deletion Syndrome |
|
Preauricular pit, Hemolytic anemia, Hypogonadotropic hypogonadism, Micrognathia, External ear mal... |
ORPHA:251066 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Fused... |
OMIM:214300 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Cough, Conductive ... |
OMIM:616726 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Open mout... |
OMIM:614080 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Macrotia, Optic atrophy, Hypoplasia of teeth, Ker... |
OMIM:234050 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Midface retrusion, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose,... |
OMIM:612940 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Optic atrophy, Respiratory insufficien... |
ORPHA:1914 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Brachycephaly, Short philtrum, Small earlobe, Bifid uvu... |
ORPHA:1449 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... |
ORPHA:99095 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Failure to thrive in infancy, Prominent nasal bridge, Cleft soft pala... |
OMIM:615582 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Torticollis, Everted upper lip vermilion, Delayed cranial sut... |
ORPHA:276432 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Midface retrusion,... |
OMIM:300990 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Camptodactyly of finger, Short neck... |
ORPHA:915 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Micrognathia, Short neck, Trismus, Whistling appearance, Elbow flex... |
OMIM:277720 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck |
OMIM:616559 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Epicanthus, Camptodactyly of finger, Hypoplasia of the maxilla... |
ORPHA:391474 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Choreoathetosis, EEG abnormality, Dystonia, Prominent nasal... |
OMIM:618218 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Slender nose, Abnormal pinna morphology, Delayed eruption... |
OMIM:216400 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Rhizomelia, Large for gestatio... |
OMIM:616638 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Epicanthus, Failure to thrive, Micrognathia, ... |
ORPHA:98791 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... |
OMIM:620292 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar... |
OMIM:617260 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, ... |
ORPHA:452 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Glass Syndrome |
|
Apnea, Dental crowding, Micrognathia, Long nose, Conical tooth, Oligodontia, High palate, Antever... |
OMIM:612313 |
Trisomy 18P |
|
Telecanthus, Abnormal pinna morphology, Facial palsy, Highly arched eyebrow, Micrognathia, Underd... |
ORPHA:1715 |
Acromicric Dysplasia |
|
Short palm, Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Decreased nerve cond... |
ORPHA:969 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... |
ORPHA:251076 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Epicanthus, Telecanthus, Spontaneous neonatal pneumothorax, Delayed closure of the anterior fonta... |
OMIM:225410 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dextrocardia, Supernumerary nipple, Cryptorch... |
OMIM:618929 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micromelia, Micrognathia, Calvarial skull defect, Wide nasal bridge, Re... |
OMIM:224410 |
Cherubism |
|
Jaw swelling, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Ol... |
OMIM:118400 |
Pontocerebellar Hypoplasia, Type 2E |
|
Epicanthus, Wide nose, Micrognathia, Optic atrophy, Opisthotonus, Large earlobe, Short nose, Fail... |
OMIM:615851 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Microretrognathia, Neonatal respiratory distress, Depressed nasal bridge, Phal... |
OMIM:251450 |
Autosomal Dominant Omodysplasia |
|
Short palm, Frontal bossing, Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elb... |
ORPHA:93328 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Tremor, Ptosis |
OMIM:619473 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Short... |
ORPHA:2751 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly... |
ORPHA:51608 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Dental malocclusion, Short finger, Recurrent otitis media |
OMIM:608940 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Short neck, Hearing abnormality, Patent ductus arteriosus, Respiratory insuf... |
ORPHA:1842 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Encephalocele, Mandibular prognathia, Ventricular septal defec... |
ORPHA:1908 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... |
OMIM:612422 |
3C Syndrome |
|
Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tric... |
ORPHA:7 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Anteverted nares, Craniosynostosis, Micrognathia, Choanal atresia, ... |
ORPHA:2645 |
Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Spars... |
ORPHA:77258 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, EEG with abnormally slow frequencies, Multifocal epileptiform discharges, B... |
ORPHA:70472 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodonti... |
ORPHA:2959 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of ... |
ORPHA:3107 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Short hallux, Senso... |
OMIM:135100 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Ohdo Syndrome, X-Linked |
|
Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Long philtrum, Depre... |
OMIM:300895 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Micrognathia, Cario... |
ORPHA:783 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Epicanthus, Micrognathia, Sensorineural hearing impairment, Cupped ear, Protruding ear, Everted l... |
ORPHA:2533 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Patent ductus arteriosus, Hypoplastic left heart, Narrow mouth, Microglossia |
ORPHA:1972 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Posteriorly rotated ears, Abnormal eyelid morphology, Micrognathia, High, narro... |
ORPHA:1787 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Tented upper lip vermilion, Apne... |
ORPHA:521426 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Neonatal respiratory distress, Frontal bossing, Small f... |
OMIM:273750 |
Atelis Syndrome 2 |
|
Micrognathia, Diastema, Thrombocytopenia, Patent ductus arteriosus, Thick lower lip vermilion, El... |
OMIM:620185 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Highly ... |
OMIM:619005 |
Achondroplasia |
|
Respiratory distress, Frontal bossing, Short femur, Depressed nasal bridge, Rhizomelia, Upper air... |
OMIM:100800 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Posteriorly rotated ears, Prominent nose, Micrognathia, Wide anterior fontanel,... |
OMIM:201170 |
Achondrogenesis |
|
Frontal bossing, Anteverted nares, Micromelia, Micrognathia, Long philtrum, Short nose, Flat face |
ORPHA:932 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, ... |
OMIM:613443 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely ... |
ORPHA:79500 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Micrognathia, Abnormality of the elbow... |
ORPHA:85276 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Small hand, Brachyc... |
OMIM:618885 |
Acromelic Frontonasal Dysplasia |
|
Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Large fontanelles, Upper airway ... |
ORPHA:1827 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Upslanted palpebral fissure, Low-set ea... |
OMIM:613735 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Osteoarthritis, Brachy... |
ORPHA:666 |
Holoprosencephaly 7 |
|
Flat occiput, Synophrys, Hypoplastic nasal septum, Shallow orbits, Parietal bossing, Median cleft... |
OMIM:610828 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependent diabetes mel... |
ORPHA:96191 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Brachycephaly, Upslanted palpebral fissure, Wide mouth, Overfolded helix, Ptosis |
OMIM:616083 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Epicanthus, Frontal bossing, Micrognathia, Underdeveloped nasal alae, C... |
OMIM:619376 |
Tarp Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Optic atrophy, ... |
OMIM:311900 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Odontogenic keratocysts of the jaw, Large for gestational ... |
ORPHA:77301 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruption of permanent ... |
ORPHA:3238 |
Achondrogenesis Type 1A |
|
Short palm, Frontal bossing, Anteverted nares, Micromelia, Micrognathia, Short foot, Long philtru... |
ORPHA:93299 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Hypoplasia of the odontoid process,... |
OMIM:305400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Cyst of the ductus ... |
OMIM:619480 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla |
OMIM:156510 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... |
OMIM:119600 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Pancytopenia, Stomatitis, Dextrocardia, Megaloblastic anemia, Thrombocy... |
OMIM:277380 |
Achondrogenesis Type 1B |
|
Frontal bossing, Anteverted nares, Micromelia, Micrognathia, Short foot, Long philtrum, Short nos... |
ORPHA:93298 |
Lathosterolosis |
|
Epicanthus, Prominent metopic ridge, Anteverted nares, Hearing impairment, Micrognathia, Bulbous ... |
ORPHA:46059 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Aplasia/Hypoplasia of the distal phala... |
ORPHA:1234 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Dental crowding, Facial palsy, Cranial hyperosto... |
OMIM:123000 |
Monosomy 22Q13.3 |
|
Epicanthus, Palpebral edema, Dental crowding, Hearing impairment, Bulbous nose, Dental malocclusi... |
ORPHA:48652 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Prominent nasal bridge, Prominent nose, Dental malocclusion, Bifid uvula, Downslanted ... |
OMIM:601552 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... |
OMIM:608670 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Sensorineural hea... |
ORPHA:3241 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Abnormal midface morphology, Aganglionic megacolon, Carious teeth, Patent d... |
ORPHA:1051 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia, H... |
OMIM:620157 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Genu recurvatum, Anteverted nares, Optic atrophy, ... |
ORPHA:1185 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Posteriorly rotated ears, Ventricular septal defect, Abno... |
ORPHA:3047 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Anteverted nares, Depressed nasal bridg... |
OMIM:608013 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Midface retrusion, Congenital hip dislocation, Frontal bossing, Dolicho... |
ORPHA:457279 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Hypoplasia of the thymus, D... |
OMIM:617241 |
Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:171881 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Protruding ear |
ORPHA:85279 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Multiple joint dislocation, High palate, Microdontia, Antever... |
ORPHA:536467 |
Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Shallow orbits, Conductive hearing impairment, Hypoplastic ce... |
OMIM:150250 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Dental crowding, Brachycephaly |
ORPHA:320385 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Protruding ear, Abnormal tricuspid valve morp... |
ORPHA:192 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Retinitis Pigmentosa |
|
Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Obesity, Wide nasal bridge, Co... |
ORPHA:791 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Unilateral ptosis, Dental crowding, Synophrys, Brachycephaly, High palate,... |
ORPHA:3063 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Opsismodysplasia |
|
Short palm, Frontal bossing, Short metacarpal, Posteriorly rotated ears, Anteverted nares, Depres... |
OMIM:258480 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Depressed nasal bridge, Trigonocephaly, Bilateral... |
ORPHA:404448 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Optic... |
OMIM:617303 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Widely space... |
OMIM:618268 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cupped ear, Everted lower l... |
OMIM:617101 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Alkuraya-Kucinskas Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Upslanted palpe... |
OMIM:617822 |
Lig4 Syndrome |
|
Epicanthus, Small for gestational age, Prominent nose, Asthma, Wide nasal bridge, Brachycephaly, ... |
OMIM:606593 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Short metatarsal, Oligodontia, Conductive hearing impairmen... |
ORPHA:1826 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the dentition, High, narrow palate,... |
ORPHA:1642 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Frontal bossing, Tented upper lip vermilion, Dental crowdi... |
OMIM:620369 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... |
OMIM:614613 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Depressed nasal bridge, Pneum... |
ORPHA:309282 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Secundum atrial septal defect, Bila... |
OMIM:616268 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Micrognathia, Prominent nose, Long nose, Prominent metopic ridge, Highly arched eyebrow, Optic di... |
ORPHA:2995 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment,... |
OMIM:122880 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, High palate, Short... |
OMIM:618332 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Microtia, first degree, Anteriorly placed anus, Short upper lip, Wide mou... |
OMIM:200110 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Brachycephaly |
OMIM:615031 |
2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Macrodontia, Highly arched eyebrow, Synophrys, Brachycephaly, Everted... |
ORPHA:228402 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Frontal bossing, Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Short nose, He... |
OMIM:256600 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Frontal bossing, Epicanthus, Prominent nose, Wide nasal bridge, Brac... |
ORPHA:1292 |
Blau Syndrome |
|
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Dyspnea, Xerostomia, Large ves... |
ORPHA:90340 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... |
OMIM:618021 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft... |
ORPHA:1784 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Posteriorly rotated ears, Apnea, Microg... |
OMIM:617527 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Frontal bossing, Epicanthus, Abnormal pinna morphology, Multiple pterygia, Nar... |
OMIM:177980 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... |
ORPHA:353277 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwanno... |
ORPHA:252164 |
Fraser Syndrome |
|
Anophthalmia, Cleft ala nasi, Dental crowding, Orofacial cleft, Malformed lacrimal duct, High pal... |
ORPHA:2052 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Alg12-Cdg |
|
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Abnormal pinna morphology... |
ORPHA:79324 |
Dermotrichic Syndrome |
|
Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, EEG abnormality, Blepharophimosis... |
ORPHA:99688 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Interictal EEG abnormality, Narrow nasal bridge, Sensorineural hearing impa... |
ORPHA:544503 |
Noonan Syndrome 1 |
|
Epicanthus, Failure to thrive in infancy, Hearing impairment, Micrognathia, High, narrow palate, ... |
OMIM:163950 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Failure to thrive, Anophthalmia, Dela... |
ORPHA:90321 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Short palpebral fissure, Conductive hearing impairment, Sensorineural h... |
OMIM:611962 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Wide nose, Apnea, Sen... |
ORPHA:79330 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficiency... |
ORPHA:93274 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Pat... |
OMIM:601005 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Anteverte... |
OMIM:600373 |
Trisomy 18 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Epicanthus, Camptodactyly of finger, Cachex... |
ORPHA:3380 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ... |
OMIM:609945 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Optic atrophy, Brachycephaly, Low-set ears, Microphthalmia, Failure to th... |
OMIM:612379 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,... |
ORPHA:66627 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Micrognathia, Narro... |
OMIM:601680 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Underdev... |
OMIM:616007 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Hypsarrhythmia, Choreoathetosis, Athetosis, Failure to thrive |
OMIM:309541 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... |
ORPHA:3092 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Apla... |
ORPHA:2970 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft pala... |
OMIM:614749 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Cryptorchidism... |
ORPHA:83617 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Choanal atresia, Micrognathia, Brachycephaly, Knee flexion contracture, Choanal ... |
OMIM:156400 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Retrognathia, M... |
OMIM:614753 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, High pala... |
OMIM:170100 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Depressed nasal bridge, Apnea, Anteverted nares, Micromelia, Wide ... |
OMIM:610015 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Epicanthus, Short femur, Posteriorly rotated ears, Accessory oral frenulum, Mic... |
OMIM:277170 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Posteriorly rotated ears, Large fontanelles, Depressed nasal ridge, Wide nasal brid... |
ORPHA:2211 |
Ctcf-Related Neurodevelopmental Disorder |
|
Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set, posteriorly... |
ORPHA:363611 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Narrow nasal bridge, Frontal bo... |
OMIM:259600 |
Lig4 Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Wide nasal bridge, Brachycephaly, Upslanted palpebral fiss... |
ORPHA:99812 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... |
ORPHA:2260 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Dental crowding, Micrognathia, Premature osteoarthritis, Pn... |
OMIM:154700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Brachycephaly, Protruding ear, Posterior plagiocephaly, High palate, Bifid... |
OMIM:620330 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Microretrognathia, Telecanthus, Thin upper lip vermilion, Posteriorly rotated ... |
OMIM:601776 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition... |
OMIM:608328 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... |
ORPHA:2538 |
Osteogenesis Imperfecta, Type Xiii |
|
Triangular face, Hearing impairment, Protruding ear, Long philtrum, Limitation of knee mobility, ... |
OMIM:614856 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Mandibular prognathia, Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Short phil... |
OMIM:617864 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Small fo... |
OMIM:245570 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Bulbous... |
OMIM:603736 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal pinna morphology, Underfolded helix, Camptodactyly of finger, Short neck, Hypoplasia of ... |
ORPHA:178303 |
Localized Scleroderma |
|
Abnormality of the nose, Abnormality of the dentition, Abnormality on pulmonary function testing,... |
ORPHA:90289 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Respiratory failure requiring assisted ventilation, Epi... |
ORPHA:576 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Full cheeks |
OMIM:137550 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose, Protruding ear |
OMIM:177990 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s... |
ORPHA:436003 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology, Posteriorly rotated ears |
ORPHA:228396 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... |
ORPHA:166100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Smooth tongue, Short tibia, Purse... |
OMIM:601559 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... |
OMIM:239850 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Patent ductus arteriosus, Orofacial cleft, High pa... |
ORPHA:65286 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Abnormal respiratory system physiology, Glossoptosis, Delayed ossifi... |
ORPHA:93346 |
Gabriele-De Vries Syndrome |
|
Posteriorly rotated ears, Aortopulmonary collateral arteries, Facial hypotonia, Micrognathia, Abn... |
OMIM:617557 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials,... |
OMIM:125250 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Missing ribs, Brachycephaly, Choanal s... |
OMIM:619859 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Synophrys, Downturned corners of mouth, Short philtrum, Widel... |
OMIM:301044 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Abnormal dental enamel morphology, Spina bifida, Abnormal dental morph... |
ORPHA:2092 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Short neck, Low posterior hairline, Mitral ... |
OMIM:618000 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... |
OMIM:612394 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... |
ORPHA:210122 |
Myopia 23, Autosomal Recessive |
|
Increased axial length of the globe |
OMIM:615431 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, Orofacial cleft, High palate, Short philtrum, Microdontia, ... |
ORPHA:221120 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Brachyc... |
ORPHA:2062 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Depressed nasal ridge, Brachycephaly, Short palm, Low-set, posteriorly rotated ears, ... |
ORPHA:175 |
Cornelia De Lange Syndrome |
|
Micromelia, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, Widely spaced te... |
ORPHA:199 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cry... |
OMIM:616975 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr... |
OMIM:600920 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Synophrys, Genu valgum, Downturned corners of mouth, Microtia,... |
ORPHA:2983 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Craniosynostosis, Micrognathia, External ear malformation, Under... |
ORPHA:3103 |
Kabuki Syndrome |
|
Orofacial cleft, Protruding ear, High palate, Widely spaced teeth, Microdontia, Conductive hearin... |
ORPHA:2322 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Asplenia, Lobulated tongue... |
OMIM:249000 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Short hallux, Sm... |
ORPHA:93259 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Frontal bossing, Wide cranial sutures, Short femur, Depressed nasal bridge,... |
OMIM:618188 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphopenia |
OMIM:620210 |
Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Increa... |
ORPHA:84064 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Epicanthus, Narrow mouth, Thin vermilion border, Long philtrum... |
ORPHA:3307 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Obesity, Limb ... |
OMIM:105830 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory canal, Conductive hearing... |
ORPHA:2213 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Thickened helices,... |
OMIM:607872 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, ... |
OMIM:147791 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Anteverted nares, Micrognathia, Delayed eruption of permanent teeth,... |
OMIM:619356 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Brachycephaly, Protruding ear, EEG abnormality, High palate, Long philtru... |
OMIM:618798 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mo... |
OMIM:300868 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Epicanthus, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, ... |
ORPHA:2257 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Micrognathia, Low-set, posteriorly... |
ORPHA:536471 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Microtia, Thin verm... |
OMIM:301025 |
Specc1L-Related Hypertelorism Syndrome |
|
Preauricular pit, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofacial ... |
ORPHA:1519 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Frontal bossing, Dental crowding, Repeated pneumo... |
OMIM:617602 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Cleft upper lip, Cleft palate, Micrognathia |
OMIM:601076 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Peho Syndrome |
|
Epicanthus, Tented upper lip vermilion, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia, ... |
OMIM:260565 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Ventricular septal defect, Posteriorly r... |
OMIM:615948 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Frontal bossing, Dental crowding, Hearing impairment, Synoph... |
OMIM:616078 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Malar flattening, Micrognathia, Hiatus hernia... |
OMIM:208050 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Abnormal pinna morphology, Cryptorchidism, Patent... |
OMIM:607143 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment |
ORPHA:2662 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Externa... |
ORPHA:1896 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Wide cranial sutures, Turricephaly, Dentinogenesis imperfecta... |
OMIM:616294 |
Fanconi Anemia |
|
Micrognathia, Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu... |
ORPHA:84 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Achilles tendon contra... |
OMIM:618076 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Micrognathia, Hip dislocat... |
ORPHA:2484 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, High palate, Bifid u... |
OMIM:607932 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Epicanthus, Wide nose, Cleft upper lip, Synophrys, Brachycepha... |
ORPHA:1394 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Asthma, Retrognathia, Triangular mouth, Protruding ear, Keratoconjunct... |
OMIM:601675 |
Marbach-Rustad Progeroid Syndrome |
|
Midface retrusion, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Narrow mo... |
OMIM:619322 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Bra... |
ORPHA:96147 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Pneumonia, Carious teeth, Supernumerary tooth, Talon cusp, Dental m... |
ORPHA:353281 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Peripheral axonal neuropathy, Tented upper lip vermilion, Posteriorly rotated ... |
OMIM:618580 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... |
ORPHA:466943 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:619909 |
Noonan Syndrome 3 |
|
Atrial septal defect, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Ventricular sep... |
OMIM:609942 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Macr... |
ORPHA:2785 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Midface retrusion |
ORPHA:1540 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Depressed nasal bridge, Micromelia, Micrognathia, Hip dislocation, Cleft palate... |
OMIM:241800 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Conductive hearing impairment, Short ... |
OMIM:304120 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment |
OMIM:608154 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Short neck, Micrognathia, High, narrow palate, Cryptorch... |
ORPHA:96092 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
White-Sutton Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Sens... |
ORPHA:468678 |
Bartter Syndrome, Type 2, Antenatal |
|
Frontal bossing, Small for gestational age, Abnormally large globe, Macrotia, Failure to thrive, ... |
OMIM:241200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Mixed hearing impairment, Frontal bossing, Block vertebrae, Tarsal synostosis, ... |
OMIM:272460 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Posterior plagiocephaly, Eyelid coloboma, Oligod... |
OMIM:615873 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Highly arched eyebrow, Brachy... |
ORPHA:2988 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Wide mouth... |
OMIM:613398 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Prominent nose, Brac... |
OMIM:619244 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Short nose, Depressed nasal bridge, Craniosynostosis |
OMIM:614732 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micromel... |
ORPHA:2021 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Brachycephaly, Choanal stenosis, Conductive hearing impairment, Abnormality ... |
ORPHA:95699 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... |
OMIM:619178 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pneumonia, Dental malocclusion, Arthritis, Limb undergrowth, Juvenile ... |
ORPHA:1855 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi... |
OMIM:613610 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Wide anterior fo... |
OMIM:620099 |
Zttk Syndrome |
|
Absent gallbladder, Midface retrusion, Ventricular septal defect, Abnormality of the dentition, H... |
OMIM:617140 |
Degcags Syndrome |
|
Micrognathia, Prominent nose, Synophrys, High palate, Anteverted nares, Abnormal eyelash morpholo... |
OMIM:619488 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Concave nasal ridge, Dolichocephaly, Wormian bones, Dentinoge... |
ORPHA:166277 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus, Abnormal platelet morphology,... |
ORPHA:2978 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge... |
OMIM:614105 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Failure to thrive |
OMIM:618603 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Thick vermilion border, Macrodontia of permanent maxillary central ... |
OMIM:620114 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Mal... |
OMIM:613038 |
Cohen Syndrome |
|
Facial hypotonia, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia... |
OMIM:216550 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, Abnormal aortic valve morph... |
ORPHA:86818 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Protruding ear, High palate, Low-set, posteriorly ... |
ORPHA:235 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Apnea, Micrognathia, Cryptorchid... |
ORPHA:2886 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Microdontia, Sensorineural hearing impairment, Patent ductus arteriosus, Hypodontia, Atrial septa... |
OMIM:602482 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Pulmonary embolism, Pa... |
ORPHA:90308 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Cough, Atrial septal defect, Microdontia, Hypothyroidism,... |
OMIM:620005 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ears, Depressed nasal brid... |
OMIM:618590 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Distal lower limb amyotrophy, Facial hypotonia, ... |
OMIM:300534 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Small for gestational age, Anteverted nares, Micrognathia, ... |
OMIM:146390 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Otitis media, Aspiration pneumonia, Thickened hel... |
ORPHA:581 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Optic atrophy, Perimembranous ventricular septal defect, High palate, ... |
OMIM:606812 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Aplasia/Hypoplasia of the ribs,... |
ORPHA:319182 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal... |
ORPHA:357058 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Open mouth, Downturned corners of mouth, Widely sp... |
OMIM:617865 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect, Aortopulmona... |
OMIM:620025 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Optic atrophy, Wide nasal brid... |
ORPHA:2510 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Re... |
ORPHA:79329 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtr... |
OMIM:136140 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... |
ORPHA:2847 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Hearing impairment, Micr... |
ORPHA:284160 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Optic atrophy, Brachycephaly, Plagiocephaly, EEG abnormality, Dolichocep... |
ORPHA:272 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arc... |
OMIM:619124 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Highly arched eyebrow, Trichiasis, Epiblepharon, Del... |
OMIM:618460 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin verm... |
OMIM:619869 |
Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Bilateral ptosis, Hypsarrhythmia, Downturned corners o... |
ORPHA:79134 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Patent ductus arteriosus, Hypoxemia,... |
ORPHA:2282 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Intestinal polyposis, Patent ductus arteriosus, Breast aplasia, Tricuspid valv... |
ORPHA:276413 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Splenomegaly, Patent ductus arte... |
OMIM:617088 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, A... |
OMIM:263650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cupped ear, Low-set ears |
OMIM:167730 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, High palate, Shallow orbit... |
ORPHA:740 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Abnormal heart m... |
OMIM:601499 |
Seckel Syndrome |
|
Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cachexia, Convex nasal ridge, ... |
ORPHA:808 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology... |
ORPHA:141127 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Small hand, Short nose, Midface retrusion, Inspiratory stridor |
OMIM:618618 |
3M Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Midface retrusion, Congenital hip dislocation, Anteve... |
ORPHA:2616 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Short tibia, Humeroradial sy... |
OMIM:251230 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose, Midfac... |
OMIM:614524 |
Xia-Gibbs Syndrome |
|
Depressed nasal bridge, Uplifted earlobe, Micrognathia, Protruding ear, Upslanted palpebral fissu... |
OMIM:615829 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Short metacarpal, Anteverted nares, Depressed nasal bridge, Aplastic cl... |
ORPHA:50945 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Thin calvarium, Worm... |
ORPHA:85184 |
Menke-Hennekam Syndrome 2 |
|
Narrow nasal bridge, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Micrognathia, ... |
OMIM:618333 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Micrognathia, Weakness of f... |
OMIM:254940 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Situs inversus totalis, Abnormal cranial... |
ORPHA:990 |
Weaver Syndrome |
|
Mandibular prognathia, Diastasis recti, Cryptorchidism, Patent ductus arteriosus, Retrognathia, H... |
OMIM:277590 |
Robinow-Sorauf Syndrome |
|
Craniosynostosis, Long nose, Bilateral ptosis, Plagiocephaly, Pansynostosis, Shallow orbits, Mala... |
OMIM:180750 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the o... |
OMIM:300232 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Short palpebra... |
ORPHA:1200 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical verte... |
OMIM:609053 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Cachexia, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Monosomy 13Q34 |
|
Epicanthus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Micrognathia, Prominent ... |
ORPHA:96168 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Cleft palate, Conotruncal defect, Anotia, Microtia |
OMIM:243440 |
Native American Myopathy |
|
Submucous cleft soft palate, Micrognathia, Bilateral ptosis, Respiratory insufficiency, Cleft pal... |
ORPHA:168572 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Epicanthus, Dental crowding, Micrognathia, Tremor, Abnormality of the dentition, Syno... |
ORPHA:476126 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... |
ORPHA:363618 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Genu varum, Microretrognathia, Abse... |
OMIM:613803 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Abnormality of the ear, Increased size of na... |
ORPHA:457395 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus... |
OMIM:300863 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Aortic root aneurysm, Mitral valve prolapse |
OMIM:130000 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Underdeveloped nasal alae, Abnormality of the... |
ORPHA:2315 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cleft palate, Low-set ears, Microphthalmia,... |
OMIM:613885 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Short metatarsal, Brachycephaly, High palate, Short metacarpal, Anteverted nares... |
OMIM:617157 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment, Premature loss of teeth, Fragile teeth |
OMIM:174810 |
Faciocardiomelic Syndrome |
|
Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestationa... |
OMIM:612731 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Failure to thrive, Congenita... |
ORPHA:456312 |
Short Syndrome |
|
Short palm, Telecanthus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnorma... |
ORPHA:3163 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... |
OMIM:153400 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Limb hypertonia, Respiratory fa... |
OMIM:620327 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, High palate, Simple ear, Anteverted nares, Facial palsy,... |
OMIM:619325 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Small hand, Cleft pa... |
ORPHA:93260 |
3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Slender nose, Thin upper lip vermilion, Dental crowding, Convex nasal ridg... |
ORPHA:397695 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Tarsal synostosis, Highly arched eyebrow, Diastema, Synophrys, Talon cusp, Opti... |
OMIM:605282 |
Deeah Syndrome |
|
Epicanthus, Neonatal respiratory distress, Narrow mouth, Narrow palate, EEG abnormality, Long phi... |
OMIM:619004 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Micrognath... |
OMIM:614921 |
Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, Tremor, Optic atrophy, Triangular mouth... |
OMIM:617988 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Limb hyp... |
ORPHA:481152 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Micrognathia, Tremor, EEG with burst suppre... |
OMIM:615574 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Anosmia, Bronchiectasis, Immotile cilia, Chro... |
OMIM:244400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Peripheral axonal neuropathy, Decreased muscle mass, Abnormal pinna morphol... |
ORPHA:1900 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... |
ORPHA:2396 |
D-Bifunctional Protein Deficiency |
|
Frontal bossing, Epicanthus, Failure to thrive, Depressed nasal bridge, Micrognathia, Decreased n... |
OMIM:261515 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Midface retrusion, Micrognathia |
OMIM:108721 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Tachypnea, Left ventricular noncompaction, Hypertrophic cardiomyopathy,... |
OMIM:616501 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Rhizomelia, Wide nasal ... |
OMIM:258315 |
Mosaic Trisomy 1 |
|
Microretrognathia, Ventricular septal defect, Abnormal pinna morphology, Congenital diaphragmatic... |
ORPHA:1692 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Patent ductus arteriosus |
ORPHA:1952 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognat... |
OMIM:609192 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Patellar apl... |
OMIM:613805 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Long eyelashes,... |
OMIM:617523 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Low-s... |
OMIM:619895 |
Acromelic Frontonasal Dysostosis |
|
Telecanthus, Optic nerve hypoplasia, Broad nasal tip, Bifid nasal tip, Cleft upper lip, Parietal ... |
OMIM:603671 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micromelia, Micrognathia, Wide nasal bridge, Respiratory insufficiency,... |
ORPHA:1865 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Widely spaced teeth, Atrial septal defect, Pulmonary artery sling, Cryptorchidi... |
OMIM:235730 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorch... |
OMIM:603467 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Short femur, Brachycephaly, Genu valgum, Wide mouth, EEG abnormality, Posterior plagi... |
OMIM:617798 |
Schilbach-Rott Syndrome |
|
Epicanthus, Posteriorly rotated ears, Micrognathia, Prominent nose, Long nose, Submucous cleft ha... |
OMIM:164220 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ... |
OMIM:614450 |
Miller-Dieker Syndrome |
|
Epicanthus, Anteverted nares, EEG abnormality, Abnormal upper lip morphology, Short nose |
ORPHA:531 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P... |
ORPHA:1465 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the neck, Conductive hearing impairment, Hypothyroidism... |
ORPHA:1606 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Optic atroph... |
OMIM:615663 |
Fetal Valproate Spectrum Disorder |
|
Epicanthus, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mou... |
ORPHA:1906 |
Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persiste... |
OMIM:265800 |
Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtrum, High palate, Sha... |
OMIM:613406 |
Aneurysm Of Sinus Of Valsalva |
|
Stroke, Dilatation of the sinus of Valsalva, Bacterial endocarditis |
ORPHA:1054 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Micrognathia, Dyspnea, Patent ductus arteriosus, Thick lower lip vermilion... |
ORPHA:555877 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Abnormal pattern of respiration, Long philtrum |
ORPHA:833 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Accessory oral f... |
ORPHA:434179 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Low-set ears, Narrow mouth, Short nose, Flat face |
OMIM:616459 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Frontal bossing, Epicanthus, Failure to thrive, Posteriorly rotated ears, Anteverted nares, Highl... |
OMIM:613563 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Knee dislocation, Vertebral hypoplasia, Short metacarpal, Depress... |
OMIM:108720 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Atrial septal defect, Advanced eruptio... |
ORPHA:818 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Increased nuchal translucency, Patent ductus arteriosus, Respiratory insu... |
ORPHA:1860 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Peters Plus Syndrome |
|
Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely sp... |
ORPHA:709 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Telecanthus, Anteverted nares, Uplifted earlobe, Micrognathia, Broad na... |
OMIM:618548 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... |
ORPHA:324410 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse eyebr... |
OMIM:250410 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Widely spaced tee... |
OMIM:601358 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Epicanthus, Craniosynostosis, Brachycephaly, Upslanted palpebral fissure, Plagiocephaly, Hypoplas... |
ORPHA:2163 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Thrombocytopenia, Patent ductus arteriosus, Flexion contracture... |
ORPHA:505248 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Brachy... |
OMIM:601701 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Aplasia of the thymus, Short neck, Schwannoma, Hypochromic mic... |
ORPHA:96123 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Exaggerated startle response, Dystonia, Depressed nasal bridge, Broad nasal tip,... |
ORPHA:79255 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Dental crowding, Knee dislocation, High palate, Small earlobe, Highly arch... |
OMIM:620083 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Thickened calvaria, Abnormal ... |
ORPHA:191 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Cleft soft palate, Short hallux, No permanent dentition, Bilateral ... |
OMIM:216300 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, Mediastinal ly... |
OMIM:181000 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shor... |
OMIM:224690 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Postural tremor, Gingival overgrowth, Alveolar ridge overgrowth, Brach... |
OMIM:301072 |
Immunodeficiency 49 |
|
Natal tooth, Posteriorly rotated ears, Micrognathia, Upslanted palpebral fissure, Short philtrum,... |
OMIM:617237 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Micrognathia, Prominent nose, Sensori... |
OMIM:618971 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Upslanted palpebral f... |
ORPHA:496790 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... |
ORPHA:261311 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Gingival overgrowth, Se... |
OMIM:230600 |
Juvenile Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal heart morphology, Hepatosplenomeg... |
ORPHA:93399 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears |
ORPHA:250977 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Posteriorly rotated ears, Patent ductus arteriosus, Full cheeks, Wide mouth, High palate, Joint c... |
OMIM:619934 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Small for gestational age, Depressed nasal bridge, Hearing impairment, Convex nasal r... |
OMIM:300661 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Hypoplasia of teeth, ... |
OMIM:608612 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Failure to thrive, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Met... |
OMIM:269150 |
Ivic Syndrome |
|
Hypoplasia of deltoid muscle, Intestinal malrotation, Thrombocytopenia, Patent ductus arteriosus,... |
OMIM:147750 |
Tenorio Syndrome |
|
Mandibular prognathia, Telecanthus, Thick eyebrow, Apnea, Anteverted nares, Wide nose, Recurrent ... |
OMIM:616260 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, P... |
ORPHA:261250 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, High palate, Neutropenia, Atrial septal defect, Joint contracture, Retr... |
OMIM:618005 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Sparse eyebrow, Underd... |
OMIM:619127 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Myocarditis, Cervical lymphadenopathy, Vasculitis, Thrombocytopenia,... |
ORPHA:50918 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Patent ductus arteriosus, Mitral valve prolapse, High palate, Low-set ears, Umbili... |
OMIM:104350 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Cleft ala nasi, Short metatarsal, Oligodontia, Foot oli... |
OMIM:305600 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid... |
ORPHA:2554 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Dental crowding, Cachexia, Micro... |
ORPHA:813 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Anteverted nares, Trigonocephaly, Micrognathia, Prominent nose, Sensorineur... |
OMIM:154230 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... |
ORPHA:96129 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr... |
ORPHA:534 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion, Hearing impairment |
ORPHA:782 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid... |
ORPHA:1752 |
Silver-Russell Syndrome 1 |
|
Frontal bossing, Small for gestational age, Micrognathia, Short distal phalanx of the 5th finger,... |
OMIM:180860 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Uplifted earlobe, Mi... |
OMIM:619841 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Anteverted nares, Micrognathia, Submucous cleft hard palate, Prominent occiput, Darwi... |
OMIM:619122 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Midface retrusion |
OMIM:619142 |
Hardikar Syndrome |
|
Atrial septal defect, Patent foramen ovale, Preauricular pit, Cleft soft palate, Vertigo, Patent ... |
OMIM:301068 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Spin... |
ORPHA:1393 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal polyposis, Apnea, Rhabdomyosarcoma, Micrognathia, I... |
ORPHA:1052 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Short lingual frenulum, Bulbous nose, Brachycephaly, Widely-spaced maxi... |
OMIM:608980 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Respiratory failure, Limb undergrowth, Depressed nasal ridge |
ORPHA:1861 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Skeleta... |
OMIM:211530 |
Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly, Wide nasal bridge, Microtia, Small earlobe |
OMIM:236400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Flat occiput, Small for gestational age, Anteverted nares, Tremor, Wide nasal ... |
OMIM:614052 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Hearing ... |
ORPHA:3440 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Asymmetry of the ears, Optic atrophy, Brachycephaly, Microphthalmia, Shor... |
OMIM:614225 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Exag... |
ORPHA:261236 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Protruding ear, High palate, Low-set... |
ORPHA:3132 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Hypoplastic cervical vertebrae, Short metacarpal, Rhizomelia, Rhizomeli... |
ORPHA:56304 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Mic... |
OMIM:274000 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Bulbous nose, Deep philtrum, Wide nasal bridge, ... |
ORPHA:1237 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Irregular dentition, Depressed nasal bridge, Abnormal auditory evoked potentia... |
OMIM:619260 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Patent ductus arteriosus, Death in childhood |
OMIM:618961 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Adenomatous co... |
ORPHA:79076 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Camptodactyly of finger, Malar flattening, Arterial tortuosity, Patent ductu... |
ORPHA:284984 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the toes, Wid... |
OMIM:113000 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Prominent nose, Brachycephaly, Abnormal periodo... |
ORPHA:480880 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, High palate, Biparietal narrowing, Dislocated radial... |
ORPHA:1308 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... |
ORPHA:464738 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Conductiv... |
ORPHA:94080 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Uplifted earlobe, Recurrent pneumonia, Cle... |
OMIM:616449 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Choanal atresia, Sagittal craniosyn... |
OMIM:610199 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Camptodactyly... |
OMIM:614815 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Long philtrum, Tented upper lip vermilion, Brachycephaly, Ptosis |
OMIM:619972 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Short neck, Rectal atresia, Respiratory failure, Hypoplasia of the thymus... |
OMIM:617666 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermi... |
OMIM:613804 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Abnormal zygomatic bone morphology, Dyspnea, Hip dislocat... |
ORPHA:3342 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Neonatal respiratory distress, Optic ... |
OMIM:220120 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Limb undergrowth, Atresia of the external ... |
OMIM:601356 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Abnormal midface morphology, Congenital diaphragmatic hernia, Cardiomegaly... |
ORPHA:116 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tracheoe... |
ORPHA:77298 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Opitz-Kaveggia Syndrome |
|
Frontal bossing, Epicanthus, Dental crowding, Choanal atresia, Delayed closure of the anterior fo... |
OMIM:305450 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im... |
OMIM:194190 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Micrognathia, Synophrys, Short palm, Microdontia, Depressed nasal bridge, Wide ... |
OMIM:616734 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu... |
ORPHA:268249 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Sensorineural hearing impairment, Cleft palate, Conductive hearing impa... |
OMIM:118100 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop... |
ORPHA:124 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Pa... |
OMIM:600268 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Posteriorly rotated ears, Asthma, Broad chin, Prominent antihelix, Wide... |
ORPHA:466950 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Crypt... |
ORPHA:2519 |
Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierr... |
ORPHA:1358 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Adrenal hypoplasia, Micrognathia, Wide anterior fontanel, Pa... |
OMIM:275210 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Prominent nose, Underdeveloped nasal alae, Supernumerary tooth, Synophrys, Sensorin... |
ORPHA:90024 |
Congenital Heart Block |
|
Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff... |
ORPHA:60041 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... |
OMIM:615108 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Congenital hip dislocation, Micrognathia, Synophrys, Dislocated wrist, Hip dislocatio... |
ORPHA:536545 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Neonatal respiratory distress, Tented upper lip vermilion, Facial hypotonia, Patent ductus arteri... |
ORPHA:589821 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:672 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, M... |
ORPHA:1106 |
Cadds |
|
Sensorineural hearing impairment, Dystonia, Short nose, Micrognathia |
ORPHA:369942 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hamartoma of tongue, Subvalvular aortic stenosis |
ORPHA:1338 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Preauricular pit, Sensorineural hearing impairment, Preauricular skin tag, Commis... |
OMIM:608389 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Atrial septal defect, Bifid uvula, Microretrognathia, Death in inf... |
OMIM:270400 |
Osteogenesis Imperfecta, Type V |
|
Triangular face, Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limi... |
OMIM:610967 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Microdontia, Atrial ... |
OMIM:135900 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Wide mouth, Thick vermilion border, Brachycephaly |
ORPHA:85290 |
Lathosterolosis |
|
Thick upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Gingiva... |
OMIM:607330 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High pal... |
OMIM:268300 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Proxima... |
OMIM:254300 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Exaggerated startle response, Tented upper lip vermilion, Prominent nose, Optic ... |
OMIM:617281 |
Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Dentinogenesis imperfecta, Hearing impairment |
OMIM:619795 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Dolichocephaly, Patellar apla... |
OMIM:613800 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art... |
ORPHA:2041 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Trigonocephaly, Protruding tongue, Recurrent pneumonia, Prominent eyelash... |
OMIM:619179 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Frontal bossing, Small for gestational age, Dental crowding, De... |
ORPHA:96182 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficiency anemia, Lym... |
ORPHA:1667 |
Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Camptodactyly of finger, Micromelia, Elbow dislocation, Brachycephaly, Genu va... |
ORPHA:2633 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Short neck, Micrognathia,... |
ORPHA:96334 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Persistence... |
ORPHA:37553 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Decreased distal sensory nerve action potential, Tongue atrophy, Tremor, ... |
ORPHA:99956 |
Cole-Carpenter Syndrome 1 |
|
Frontal bossing, Midface retrusion, Micrognathia, Shallow orbits, Wormian bones, Microdontia, Cor... |
OMIM:112240 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Abnormality of the elbow, Small hand, Thin vermili... |
ORPHA:3121 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ear... |
OMIM:614294 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
Carpenter Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Polysplenia, Cryptorchidism |
ORPHA:65759 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Allergic rhinitis, Asthma, Recurrent pneumonia, Sensorineur... |
ORPHA:443811 |
Macrocephaly/Autism Syndrome |
|
Frontal bossing, Epicanthus, Depressed nasal bridge, Large for gestational age, Obesity, High pal... |
OMIM:605309 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Oligodon... |
OMIM:609460 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Patent ductus arteriosus, Anemia |
ORPHA:2123 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Action tremor, Small hand, Brachycephaly, Short foot, Ath... |
OMIM:615273 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Short neck, Micrognathia, Hypoplasia of the maxilla... |
OMIM:261540 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe... |
ORPHA:769 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... |
OMIM:615109 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Opisthotonus, Short metacarpal, Cloverleaf skull... |
ORPHA:508533 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Ly... |
ORPHA:449395 |
X Small Rings |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root... |
ORPHA:96201 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Micrognathia, Synophrys, Dental malocclusion, Wide nasal bridge, Localized hypoplasia... |
ORPHA:73223 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Cleft upper lip... |
OMIM:264480 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Abnormal calcification... |
OMIM:271665 |
Prune Belly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Xerostomia, Aplasia of the abdominal wall musculature, ... |
OMIM:100100 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Myelomeni... |
OMIM:311200 |
Craniofrontonasal Syndrome |
|
Frontal bossing, Telecanthus, Cleft upper lip, Bifid nasal tip, Abnormality of the dentition, Wid... |
OMIM:304110 |
Rapp-Hodgkin Syndrome |
|
Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, V... |
OMIM:129400 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, C... |
ORPHA:2588 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Asthma, Small hand, Brachycephaly, Plagiocephaly, Short foot, Failure to thrive, Hear... |
ORPHA:500055 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Arterial tortuosity, Micrognathia, Patent ductus arteriosus, Orofacial c... |
ORPHA:60030 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Rhizomelia, Abn... |
OMIM:271510 |
Campomelic Dysplasia |
|
11 pairs of ribs, Depressed nasal bridge, Small abnormally formed scapulae, Micrognathia, Hip dis... |
ORPHA:140 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depr... |
ORPHA:313855 |
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm |
|
Celiac artery compression |
OMIM:116870 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Upslanted ... |
OMIM:618437 |
Rhombencephalosynapsis |
|
Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolo... |
ORPHA:59315 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of paro... |
ORPHA:79078 |
Rhyns Syndrome |
|
Sensorineural hearing impairment, Short femoral neck, Conductive hearing impairment, Thickened ca... |
OMIM:602152 |
Mccune-Albright Syndrome |
|
Nasal congestion, Dental malocclusion, Abnormal facial skeleton morphology, Hearing impairment |
ORPHA:562 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Almond-sha... |
ORPHA:522077 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Frontal bossing, Failure to thrive, Lacrimal duct stenosis, Choanal atresi... |
OMIM:151050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Brachyturricephaly, Dec... |
ORPHA:314621 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Posteriorly rotated ears, Aplasia/Hypoplasia o... |
ORPHA:2759 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Obesity, Upslanted palpebral fissure, Wide mouth, Long ear, Short ... |
ORPHA:293948 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Micrognathia, Decreased nerve conduction velocity, Cleft palate, C... |
OMIM:618356 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Low-set ears |
ORPHA:2399 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Everted upper lip vermilion, Frontal bossing, Sparse eyelas... |
OMIM:305100 |
Williams-Beuren Syndrome |
|
Microdontia, Medial flaring of the eyebrow, Anteverted nares, Depressed nasal bridge, Obesity, Bl... |
OMIM:194050 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge, Low-set ears |
OMIM:617127 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Abnormal dental enamel morphology, Micr... |
ORPHA:2050 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Increased axial length of the globe |
OMIM:602499 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal heart morphology, Hepatosplenomeg... |
ORPHA:93400 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Short philtrum, Conductive he... |
ORPHA:2044 |
Menkes Disease |
|
Wormian bones, Brachycephaly, Hypsarrhythmia |
OMIM:309400 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Brachycephaly, Knee flexion contracture, Downturned corners... |
OMIM:259050 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Abnormal salivary gland morphology |
ORPHA:31 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition... |
OMIM:277600 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Lymphatic Malformation 13 |
|
Chronic lung disease, Unilateral deafness, Patent ductus arteriosus, Hydrocele testis, Neonatal d... |
OMIM:620244 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Small hand, Cleft palate, Knee flexion contracture, Upslanted... |
ORPHA:488642 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Aplasia of the nasal bone, Acrania, Micrognathia, Short nose, Protruding ear, Upslant... |
OMIM:618820 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Hypoplastic facial bones |
OMIM:619793 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Open mouth, Upslanted palpebral fissure, Short philtrum... |
ORPHA:228384 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Delayed eruption of permanent teeth, Microtia |
OMIM:620370 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, 11 pairs of ribs, Palpebral edema, Micromelia, EEG abnormality, Long philtr... |
ORPHA:50810 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Ventricular septal defect, Anterior pituitary hyp... |
ORPHA:464306 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Intestinal malrot... |
ORPHA:2166 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Smooth phil... |
OMIM:278250 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditi... |
OMIM:158350 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Micr... |
DECIPHER:81 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Prominent superficial veins, Dental crowding, Hypoplasia of the maxilla, B... |
OMIM:617402 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Acrocephalopolydactylous Dysplasia |
|
Epicanthus, Abnormal pinna morphology, Craniosynostosis, Micromelia, Oxycephaly, Upslanted palpeb... |
OMIM:200995 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Entropion, Macrotia, Pneumothorax, Hip dislocation, Wide nasal bridge, Bulbous... |
OMIM:617403 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating leptin concentrati... |
ORPHA:2298 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Death in infancy, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of t... |
ORPHA:570 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Opsismodysplasia |
|
Frontal bossing, Flat occiput, Depressed nasal bridge, Large fontanelles, Respiratory insufficien... |
ORPHA:2746 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Cachexia, Micrognathia, Dolichocephaly, Narrow pala... |
ORPHA:109 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Optic atrophy |
ORPHA:216873 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Short neck, Cardiomegaly, Patent ductus arteriosus, Low posterio... |
ORPHA:1517 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Op... |
OMIM:610505 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Decreased calvarial ossification, Short lower limbs, Dentinogenesis imperfecta |
OMIM:259440 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent d... |
ORPHA:464311 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weakness, Foot... |
OMIM:616155 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Icf Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, ... |
ORPHA:2268 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Short distal phalanx of finger, ... |
OMIM:302950 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Cohen-Gibson Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Flexion contracture, Retrognathia, Chin with horizontal... |
OMIM:617561 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Micrognathia, Sparse eyebrow, B... |
ORPHA:495875 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Humeroradial synostosis, Hypo... |
ORPHA:2879 |
Analbuminemia |
|
Patent ductus arteriosus |
OMIM:616000 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Mixed hearing impairment, Thickened calvaria |
OMIM:126550 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... |
ORPHA:3240 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Turricephaly, Depressed nasal bridge, Anteverted nares, Micromelia, Pro... |
OMIM:200600 |
Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
Galloway-Mowat Syndrome 3 |
|
Micrognathia, Hiatus hernia, Coarctation of aorta, High palate, Low-set ears, Narrow mouth, Midfa... |
OMIM:617729 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d... |
OMIM:617397 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Elbow contracture, Patent ductus... |
OMIM:618162 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Protruding ear, Upslanted palpebral fissure, Downturned corners of mouth,... |
OMIM:301030 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Narrow nose, Carious teeth, Keratoconjunctivitis sicca, Adult onset sensorineu... |
ORPHA:90324 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Abnormality of the thyroid gland, Xerostomia, Enlarged lacrimal glands, Abnormal pa... |
ORPHA:449432 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Failure to thrive, Short humerus, Hypoplasti... |
OMIM:309350 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Bilateral ptosis, Sensorineural hearing impairment, Optic at... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy... |
ORPHA:101085 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Anteverted nares, Blepharophimosis, Abnormality o... |
ORPHA:3339 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormality of the tonsils, Malabsorption, Thrombocytopenia, Sensorineural hearing imp... |
ORPHA:47 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Posteriorly rotated ears, Pulmonary artery sling, Coronary sinus enlargement, ... |
OMIM:619268 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema... |
ORPHA:500150 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus arteriosus, Eso... |
OMIM:617053 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Short philtrum, High palate, Otitis media, Intent... |
OMIM:619475 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Thickened calvaria, Abnormal nasolacrimal system morphology, Abnormal dent... |
ORPHA:2658 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Cleft palate, ... |
ORPHA:3320 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge |
OMIM:200130 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Epicanthus, Wide nose, Depressed nasal bridge, Synophrys, Bulbous nose, Thick lower lip vermilion... |
OMIM:610442 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Small earlobe, Anteverted nares, Short thumb... |
OMIM:619522 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Frontal bossing, Posteriorly rotated ears, Prominent nasal bridge, Large f... |
OMIM:617011 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal bridge, Brachycep... |
ORPHA:500 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Midface retrusion, Genu recurvatum, Phalangeal dislocation, Craniosynostosis, ... |
OMIM:130070 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, Optic nerve hypopl... |
OMIM:206900 |
Orofaciodigital Syndrome Iv |
|
Accessory oral frenulum, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Triangular face, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:616503 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Venous insufficiency, Open bite, Abnormality of the pa... |
ORPHA:2969 |
Lymphedema-Distichiasis Syndrome |
|
Diabetes mellitus, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Webbe... |
ORPHA:33001 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Short palm, Microdont... |
ORPHA:93357 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion co... |
OMIM:601803 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... |
OMIM:149730 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Esophagea... |
OMIM:227646 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Abnormal pinna morphology, Symblepharon, Broad nasal tip, Small hand, Broad columell... |
ORPHA:488434 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
Isolated Exencephaly |
|
Low-set ears, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone |
ORPHA:563612 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Tall chin, Atrial septal defect, Conductive hearing ... |
ORPHA:821 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... |
OMIM:612290 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Smooth philtrum, Dental crowding, Micrognathia, Varicose veins, Thin vermilion border, Short phil... |
OMIM:618343 |
Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Splenomegaly, Patent ductus arteriosus, Anemia |
ORPHA:30 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... |
ORPHA:466791 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Slender build, Prominent nasal bridge, ... |
ORPHA:457359 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Retrognathia, Cleft palate, Pierre-Robin sequence |
OMIM:620269 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Advanced ossification of carpal bones, Cleft palate, Flat acetabular roof, ... |
OMIM:269250 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Hypoplasia of the ulna, Aganglionic megacolon, Short humerus, Short... |
ORPHA:959 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing i... |
ORPHA:529808 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Sensorineural hearing impairment, Upper airway obstruction, Cleft palate, Glossopto... |
ORPHA:440354 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing i... |
ORPHA:529799 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Tongue fasc... |
OMIM:608800 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Sinusitis, Miscarriage, Cost... |
OMIM:245150 |
Solar Urticaria |
|
Dyspnea, Vertigo, Abnormal tongue morphology, Wheezing, Abnormal lip morphology |
ORPHA:97230 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Pancreatic... |
OMIM:208540 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... |
ORPHA:2152 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Oral u... |
OMIM:602450 |
Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, High palate, Conductive hearing ... |
OMIM:166780 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Absent ossification of calvaria, Large fontanelles, Respiratory insuff... |
OMIM:166210 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Coarcta... |
OMIM:614300 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anteverted nares, Depressed nasal bridge, Dolichocephaly, Sensorineural hearing impairment, EEG a... |
ORPHA:2719 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Atrial septal defect, Hypothyr... |
ORPHA:438213 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Smooth philtrum, Epicanthus, Ectropion, Anteverted nares, Fron... |
ORPHA:2308 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Mater... |
ORPHA:1199 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Synophrys, Short nose, Midface retrusion |
DECIPHER:52 |
Melioidosis |
|
Pneumonia, Abnormality of the spleen, Acute infectious pneumonia, Abnormal parotid gland morpholo... |
ORPHA:31202 |
Cutis Marmorata Telangiectatica Congenita |
|
Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacial cleft, Arteriovenous malform... |
ORPHA:1556 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Frontal bossing, Micrognathia, Anteverted ears, Bulbous nos... |
OMIM:613884 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Micrognathia, Short metatarsal, Protruding ear, Abnorma... |
OMIM:216340 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Low-set... |
ORPHA:2752 |
Otospondylomegaepiphyseal Dysplasia |
|
Posteriorly rotated ears, Micrognathia, Short neck, Sensorineural hearing impairment, Cleft palat... |
ORPHA:1427 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Torticollis, Abnormal pinna morphology, Symblepharon, Retrognathia, Malar flattening... |
OMIM:611929 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Micrognathia, Prominent nose, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia... |
OMIM:268305 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing en... |
OMIM:619991 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... |
ORPHA:261552 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Highly arched eyebrow, Short thumb, ... |
OMIM:616728 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Micrognathia, Abnormality of the dentition, Large fontanelle... |
ORPHA:90154 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Obesity |
OMIM:615985 |
Fucosidosis |
|
Abnormality of the dentition, Failure to thrive, Brachycephaly, Hearing impairment |
ORPHA:349 |
Bruck Syndrome |
|
Wormian bones, Pterygium, Triangular face, Respiratory insufficiency |
ORPHA:2771 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Ileal atresia, Pate... |
OMIM:619351 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... |
ORPHA:1101 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairm... |
OMIM:614207 |
Proteus Syndrome |
|
Narrow internal auditory canal, Anteverted nares, Abnormal dental enamel morphology, Craniosynost... |
ORPHA:744 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ankle clonus, Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Prominent nasal bridge, Trigonocephaly, Micrognathia... |
ORPHA:1587 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, Hemolytic anemia, Hyperthyr... |
ORPHA:797 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Posteriorly rotated ears, Anteverted nares, Synophrys, Tented philtru... |
OMIM:618479 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, Protruding ear, High palate, Atrial septal defect, Recurrent a... |
OMIM:147920 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... |
ORPHA:466768 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Osteogenesis Imperfecta, Type Xviii |
|
Abnormality of the dentition, Micrognathia, Wide nasal bridge, Long eyelashes, Wormian bones |
OMIM:617952 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2834 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Abnormal pa... |
ORPHA:141099 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosi... |
ORPHA:258 |
Osteopetrosis, Autosomal Recessive 3 |
|
Optic nerve compression, Dental malocclusion, Cranial hyperostosis |
OMIM:259730 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Lym... |
ORPHA:51636 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age, EEG with multifocal slow activity |
ORPHA:289266 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Low-set, posteriorly rotated ears, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism... |
ORPHA:1772 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Optic nerve dysplasia, Brachycephaly, Obesity, Plagiocephaly, S... |
OMIM:617296 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity, Genu valgum, Short foot, Recurrent otitis media, Short ribs, Short palm, Conductive hear... |
OMIM:250420 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Epicanthus, Posteriorly rotated ears, Limited elbow movement, Missing ribs... |
OMIM:151100 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, High palate, Neutropenia, Atrial septal defect, Spin... |
OMIM:105650 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Respiratory... |
OMIM:620285 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosplenomegaly, Bile duct... |
OMIM:267010 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Wide nose, Cloverleaf skull, Small for gestational age, Tarsal synostosis, Crani... |
OMIM:201750 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Upslanted palpebral fissure, Wide mouth, S... |
OMIM:231050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Optic atrophy, Cleft palate, Buphthalmos, ... |
OMIM:236670 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato... |
OMIM:608643 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Congenital diaphragmatic hernia, Situs inversus to... |
ORPHA:991 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Failure to thrive in infancy, Prominent nasal bridge, Underdeveloped n... |
ORPHA:268261 |
Ataxia-Telangiectasia |
|
Sinusitis, Diabetes mellitus, Female hypogonadism, Bronchiectasis, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Micromelia, Micrognathia, C... |
OMIM:211350 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Synophrys, Bulbous no... |
OMIM:615803 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Conductiv... |
ORPHA:276621 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Frontal bossing, Short nose, Depressed nasal bridge, Midface retrusion |
ORPHA:210548 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Decreased muscle mass, Micrognathia, Short neck, Elbow flexion contracture, Cleft... |
OMIM:615065 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Congenital hip dislocation, Low-set, posteri... |
ORPHA:373 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tented upper lip vermilion, Apnea, Tremor, Truncal titubation, Thin... |
OMIM:618056 |
Cutis Laxa, Autosomal Dominant 3 |
|
Hip dislocation, Protruding ear, Low-set ears, Wormian bones, Triangular face, Delayed cranial su... |
OMIM:616603 |
Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Short nose, Micrognathia |
OMIM:266810 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Prominent nose, Widely spaced teeth, Sensorineural hearing impairment |
OMIM:604804 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Decreased proportion of naive T cells, Pneumonia, Malabsorption... |
ORPHA:83471 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Synophrys, Plagiocephaly, Conductive h... |
ORPHA:3042 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth |
ORPHA:50814 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Conductiv... |
ORPHA:29072 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:231070 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Sensorineural hearing impairment, Hypopnea, Re... |
OMIM:617248 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Dilated cardiom... |
ORPHA:79282 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the odontoid process, Brac... |
OMIM:250250 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea, Hip dislocation |
OMIM:149400 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormality of the dentition, Carious teeth, Wide nasal bridge, Gingival o... |
ORPHA:93 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Protru... |
OMIM:619534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Micrognathia... |
OMIM:220111 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Neonatal respiratory distress, Thymus hyperplasia, Micrognathia, Type 1 muscle ... |
OMIM:619036 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular septal defect, Increased pulmonary vascular resistance, Vertigo... |
ORPHA:97214 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ... |
ORPHA:2167 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/... |
ORPHA:564 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Abnormal pulmonary valve morphology, External ear malformation, Cryptorchi... |
ORPHA:857 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... |
ORPHA:3201 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Sensorineural hearing impairment, Hip dislocation, Brachycephaly, Failu... |
OMIM:616263 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Inflammation of the large i... |
ORPHA:99413 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Pneumonia, Bronchiectasis, Brachycephaly, Restrictive ventilatory d... |
ORPHA:1572 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Antecubital pterygium, Short foot, Recurrent otitis media, Short femoral neck, Short palm, Conduc... |
ORPHA:2502 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Inflammation of the large i... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Inflammation of the large i... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Inflammation of the large i... |
ORPHA:881 |
Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Micrognathia, Short neck, Thic... |
OMIM:619297 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Patent ductus arteriosus, High palate |
OMIM:259100 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Respiratory insufficiency, Tongue f... |
OMIM:614678 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Micrognathia, Flexion contracture, Knee flexion contracture, Short philtrum, Death in... |
OMIM:210710 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Lymphangioma, ... |
ORPHA:1571 |
Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Xerostomia, Cardiomyopathy, Abnormal spleen morphology, Orthostatic... |
ORPHA:85448 |
Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Abnormality of the seventh cranial... |
ORPHA:548 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Esophageal stenosis, Diabetes mellitus, Abnormality of neutrophils, Abn... |
ORPHA:1775 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Apnea |
OMIM:614618 |
Wiedemann-Rautenstrauch Syndrome |
|
Thickened calvaria, Tremor, Synophrys, Abnormality of the ear, Downturned corners of mouth, Hypop... |
ORPHA:3455 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Micrognathia, Protruding tongue, Cupped ear, Abnormal heart morphology,... |
OMIM:617062 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Large placenta, Increased nuchal translucency, Costal ca... |
OMIM:215140 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Frontal bossing, Epicanthus, Highly arched eyebrow, Obesity, Narrow palpebral fi... |
OMIM:618653 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... |
OMIM:609136 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Ankle clonus, Aspiration pneumonia, Dystonia... |
ORPHA:845 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the clavicles, Abnormality of the dentition, A... |
ORPHA:90153 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Small for gestational age, Narrow nasal ridge,... |
OMIM:606721 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal eyelid morpholog... |
ORPHA:909 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Hamartomatous pol... |
ORPHA:2930 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short neck, Abnormal respiratory system physiology, Cleft palate, Glossoptosis, Lar... |
ORPHA:94068 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Brachycephaly |
ORPHA:1173 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Ventricular septal defect, Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary tooth... |
OMIM:619525 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure |
OMIM:613435 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Abnormal internal carotid artery morphology, Elevated circulating para... |
ORPHA:97685 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response |
OMIM:618201 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Pulsatile tinnitus |
OMIM:168000 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Apnea, Micrognathia, Protruding tongue, Weakness of facial musculatu... |
ORPHA:98889 |
Knobloch Syndrome 2 |
|
Encephalocele, Micrognathia, Pyloric stenosis, Patent ductus arteriosus, Enamel hypoplasia |
OMIM:618458 |
Osteogenesis Imperfecta, Type Vii |
|
Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Micromelia, Wide anterior fontanel, Hearin... |
OMIM:610682 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Protruding ear, Periodontitis, Micro... |
ORPHA:286 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Fanconi Anemia, Complementation Group U |
|
Unilateral facial palsy, Patent ductus arteriosus |
OMIM:617247 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Vertigo, Tongue fasciculations, Hearing impairment |
ORPHA:276198 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Elbow dislocation, Hypoplasia of the radius, Hip dislocation, ... |
ORPHA:2557 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti... |
OMIM:616682 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations, Hearing impairment |
OMIM:614153 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology |
ORPHA:531151 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion |
ORPHA:140936 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Hartsfield Syndrome |
|
Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Gonadotropin deficie... |
OMIM:615465 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Optic disc pallor, Pyloric stenosis, Patent ductus arteriosus, Peripapil... |
OMIM:267750 |
Singleton-Merten Syndrome 1 |
|
Smooth philtrum, Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth ge... |
OMIM:182250 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Cleft palate, Abnormality of the... |
ORPHA:90354 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Posteriorly rotated ears, Secundum atrial septal defect, Patent ductus art... |
OMIM:613355 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hearing impairment |
OMIM:265050 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, Abnormal autonomic nervo... |
ORPHA:2483 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Rhinorrhea, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale... |
OMIM:158310 |
Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Short femur, Bilateral conductive hearing impairment |
OMIM:602080 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Joint hemorrhage, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Papilledema, Cachexia, Sensorineural hearing impairment, Brachy... |
ORPHA:2072 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Optic disc pallor, Mixed hearing impairment, Pneumonia |
ORPHA:309288 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palat... |
ORPHA:261537 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Cleft... |
ORPHA:563609 |
Tay-Sachs Disease |
|
Aspiration, Exaggerated startle response |
OMIM:272800 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe... |
OMIM:100300 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Neutr... |
ORPHA:79284 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Wide anterior fontanel, Decreased calvarial ossification, Wormian bones, Dentin... |
OMIM:610915 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Exaggerated startle response, Dystonia |
OMIM:272750 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Wide anterior fontanel, Dermatochalasis, Pneumothorax, Hip dislocation, Recurrent pneumonia, Resp... |
ORPHA:90349 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Mixed hearing impairment, Recurrent pneumonia |
OMIM:620012 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Optic atrophy, Buphthalmos, EEG abnormality, Everted lower lip vermilion, Microphth... |
OMIM:253280 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Apl... |
OMIM:102700 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Stroke, Renal artery stenos... |
OMIM:118450 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of aorta, ... |
ORPHA:90348 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic facial bones |
OMIM:607326 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... |
ORPHA:287 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Protruding ear |
ORPHA:50 |
Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Respiratory insufficiency, Short foot, Long philtrum, Pulmo... |
OMIM:614185 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Highly arched eyebrow, Micrognathia, Short hallux, Sensorineural hearin... |
OMIM:620305 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell ... |
ORPHA:653 |
Acromesomelic Dysplasia 1 |
|
Frontal bossing, Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromes... |
OMIM:602875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Respiratory failure |
OMIM:616538 |
Neuroocular Syndrome |
|
Scapular winging, Unilateral deafness, Short uvula, Cupped ear, Submucous cleft hard palate, Ante... |
OMIM:619539 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Epicanthus, Apnea, Abnormality of the dentition, Elbow dislocation, Decreased ... |
ORPHA:285 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Hypothyroidism, Preauricular pit, Cryptorchidism, Microtia, Umbilical herni... |
OMIM:107480 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi... |
ORPHA:54028 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Hypoplastic facial bones |
OMIM:223800 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Trismus, Asth... |
ORPHA:3206 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Brachycephaly, Cleft palate, Disproportionate shortening o... |
OMIM:263520 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t... |
OMIM:148210 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Short nose |
OMIM:614863 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Sandhoff Disease |
|
Macroglossia, Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 8 |
|
Trigonocephaly, Exaggerated startle response |
OMIM:300607 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard ... |
OMIM:157170 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Opisthotonus, Thick vermilion border, Long philtrum, Short nose |
OMIM:252160 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis, Anemia |
OMIM:175500 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Opisthotonus, Thick vermilion border, Long philtrum, Short nose |
OMIM:252150 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Optic nerve hypoplasia, Cleft soft palate, Optic atrophy, Genu valgum, Down... |
OMIM:619321 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, ... |
ORPHA:90045 |
Microsporidiosis |
|
Myositis, Sinusitis, Pneumonia, Myocarditis, Abnormality of the parathyroid gland, Abnormality of... |
ORPHA:2552 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Norrie Disease |
|
Buphthalmos, Microphthalmia, Sensorineural hearing impairment, Optic atrophy |
OMIM:310600 |
Aspartylglucosaminuria |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic frontal sinuses, Thick lower lip vermilion,... |
OMIM:208400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Aicardi Syndrome |
|
Prominence of the premaxilla |
OMIM:304050 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Buphthalmos, High palate, Abnormality of the dentition |
OMIM:251750 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Goiter, Abnormality of the thyroid gla... |
ORPHA:201 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, EEG with focal spike waves |
ORPHA:370997 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck, Abnormal cardiac se... |
ORPHA:3310 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Persistent cloaca |
ORPHA:1112 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Anemia |
ORPHA:79396 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Plague |
|
Respiratory distress, Chapped lip, Lymphadenitis, Splenomegaly, Enterocolitis, Endocarditis, Enla... |
ORPHA:707 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Epiblepharon, Thick eyebrow, EEG with g... |
OMIM:618367 |
Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia, Geographic tongue, Cheilitis |
ORPHA:247353 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Decreased response to growth hormone stimulation test, H... |
OMIM:180500 |
Glucagonoma |
|
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Stomatitis, Elevated circula... |
ORPHA:97280 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos |
OMIM:231300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Penile Agenesis |
|
Depressed nasal bridge, Posteriorly rotated ears, Short nose |
ORPHA:49 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Micrognathia, Cryptorchidism, Esophageal atresia, Respiratory insufficiency, Ect... |
ORPHA:93271 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Cystic Fibrosis |
|
Sinusitis, Hearing impairment, Reduced forced expiratory volume in one second, Asthma, Pneumothor... |
ORPHA:586 |
Sturge-Weber Syndrome |
|
Buphthalmos |
OMIM:185300 |
Migraine With Or Without Aura, Susceptibility To, 1 |
|
|
OMIM:157300 |