| 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, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... |
ORPHA:3145 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Malar ... |
ORPHA:2972 |
| Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Apnea, Abnormal pinna morphology, Dental malocclusion... |
OMIM:614669 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Abnormal pinna morphology, Low-set ears, Cleft palate, Glossoptosis... |
OMIM:616145 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Thymic Aplasia With Fetal Death |
|
Truncus arteriosus |
OMIM:274210 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Wide anterior fontanel, Absent paranasal sinuses, Malar flattening, Abnormally large... |
OMIM:269300 |
| X-Linked Mandibulofacial Dysostosis |
|
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Abn... |
ORPHA:1131 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Protruding ear, Atrial septal defect, Cryptorchidism,... |
ORPHA:3304 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Narrow mouth, Low-set, posteriorly rotated ears, Carious teeth, Hypop... |
ORPHA:1110 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Delayed cranial s... |
ORPHA:1832 |
| Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Midface... |
ORPHA:1327 |
| Diabetic Embryopathy |
|
Abnormality of the neck, Cleft palate, Microtia, Micrognathia, Aplasia/Hypoplasia of the abdomina... |
ORPHA:1926 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft palate, Broad nasal tip, Short philtrum, Athetosis, Short nose, Tented upper lip vermilion,... |
OMIM:239300 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
| Emanuel Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Anal atresia, Micrognathia, Long philtrum, ... |
OMIM:609029 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Bulbous nose, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Retrognathi... |
OMIM:613792 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Plagiocephaly, Upslanted palpebral fissure, Overfolded helix, Wide cranial s... |
OMIM:619149 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
| Mcdonough Syndrome |
|
Dental malocclusion, Protruding ear, Short palpebral fissure, Open bite, Cachexia, Micrognathia, ... |
ORPHA:2471 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrogn... |
OMIM:613684 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Downsla... |
OMIM:257850 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Conductive hearing impairment, Everted lower lip vermilion, Pulmonic stenosis, Anter... |
OMIM:617877 |
| Seckel Syndrome 1 |
|
High palate, Abnormal pinna morphology, Cleft palate, 11 pairs of ribs, Downslanted palpebral fis... |
OMIM:210600 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Sensorineural hearing impairment, High palate, Plagiocephaly, Decreased body weight, Abnormally l... |
OMIM:300749 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... |
ORPHA:861 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
| Fetal Trimethadione Syndrome |
|
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Tet... |
ORPHA:1913 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Auriculocondylar Syndrome 1 |
|
Cleft at the superior portion of the pinna, Apnea, Dental malocclusion, Narrow mouth, Cleft palat... |
OMIM:602483 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1727 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Thickened nucha... |
OMIM:618164 |
| Pierpont Syndrome |
|
Broad nasal tip, Short nose, Microphthalmia, Midface retrusion, Decreased body weight, Prominent ... |
OMIM:602342 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Bulbous nose, Micrognathia, Prominent metopic ridge, Bifid nose, Bifid nasal tip, Brachycephaly, ... |
OMIM:275595 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Ventricular septal defect, Midface retrusion, Thick lower lip vermi... |
OMIM:179613 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Failure to thrive, Thick eyebrow, Malar flattening, Micrognathia, Abnormality of the... |
ORPHA:217340 |
| Myopathy, Congenital, Bailey-Bloch |
|
High palate, Conductive hearing impairment, Short palpebral fissure, Cleft palate, Micrognathia, ... |
OMIM:255995 |
| Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... |
ORPHA:1695 |
| Bent Bone Dysplasia Syndrome 1 |
|
Gingival overgrowth, Short clavicles, Malar flattening, Coronal craniosynostosis, Micrognathia, A... |
OMIM:614592 |
| Larsen-Like Syndrome |
|
Conductive hearing impairment, Wide anterior fontanel, Dental malocclusion, Joint dislocation, Ma... |
OMIM:608545 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Short neck, Optic atrophy, Ventricular septal defect, Hyp... |
OMIM:201000 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Prominent metopic ridge, Long philtrum, Short nose, Flat occiput, Anteverted nares... |
ORPHA:46 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Respiratory insufficiency, Neonatal death, Ventricular s... |
OMIM:228940 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Long eyelashes, Short distal phalanx of ... |
OMIM:619293 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Low-set ears, Abnormal cardiac septum morphology, Cryptorchidism, Congenital diaphra... |
ORPHA:251071 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Abnormal pinna morphology, Bicuspid aortic valve, Atrial septal de... |
ORPHA:477817 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Pneumonia, Anteverted ... |
OMIM:614069 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide mouth, Narrow mouth, Prominent nasal tip, Thick eyebrow, Short palpebral fissure, Upslanted ... |
OMIM:615834 |
| Branchiooculofacial Syndrome |
|
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Short neck, P... |
OMIM:113620 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... |
ORPHA:96170 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Craniosynostosis And Dental Anomalies |
|
High palate, Dental malocclusion, Stapes ankylosis, Narrow palate, Supernumerary tooth, Conductiv... |
OMIM:614188 |
| Pierpont Syndrome |
|
Uplifted earlobe, Short toe, Brachycephaly, Microphthalmia, Long upper lip, Malar flattening, Sma... |
ORPHA:487825 |
| Potocki-Lupski Syndrome |
|
High palate, Sleep apnea, Failure to thrive, Dental malocclusion, Wide mouth, EEG abnormality, Pr... |
OMIM:610883 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Trisomy 18-Like Syndrome |
|
Abnormal pinna morphology, Micrognathia, Telecanthus, Narrow palpebral fissure, Low-set ears, Ble... |
OMIM:601161 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Failure to thrive, Protruding ear, Dental malocclusion, Wide mouth, Curly eyelashes,... |
OMIM:249630 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Abnormality of cartilage of exte... |
ORPHA:3426 |
| Velocardiofacial Syndrome |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Umb... |
OMIM:192430 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Dental malocclusion, Short distal phalanx of finger, Depressed nasal bridge, Short... |
OMIM:155050 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, High palate, Plagiocephaly, Capitate-hamat... |
OMIM:602849 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Epicanthus, Short nose, Anteverted... |
ORPHA:2015 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Optic atrophy, Hearing impairment, Broad jaw, Thickened calvaria, Facial palsy,... |
ORPHA:178377 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, High palate, Narrow palate, Overriding aorta, Micrognathia, Hypoplasia of the thymus... |
OMIM:617022 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Low-set, pos... |
ORPHA:261120 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:3074 |
| Achondroplasia |
|
Conductive hearing impairment, Malar flattening, Depressed nasal bridge, Genu varum, Limited elbo... |
OMIM:100800 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
| Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Hypoplasia of the maxilla, Tented upper lip vermilion, Midf... |
OMIM:615546 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Microtia, Upslanted palpebral fissure, Micrognathia, ... |
OMIM:248910 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft pala... |
ORPHA:137888 |
| Holoprosencephaly |
|
Abnormal antihelix morphology, Short neck, Optic atrophy, Ventricular septal defect, Median cleft... |
ORPHA:2162 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Midf... |
ORPHA:207 |
| Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Malar flattening, Cleft palate, Micrognathia, Respiratory failure ... |
OMIM:618939 |
| Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Broad nasal tip, Depressed nasal bridge, Downslanted palpebral fissures,... |
OMIM:249420 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Overfolded helix, Underdeveloped tragus, Short nose,... |
ORPHA:79113 |
| Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Hypoplasia of the maxilla, Tented upper lip vermilion, Midf... |
OMIM:601390 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner syndrome,... |
OMIM:141300 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Malar flattening, Craniosynostosis, Microtia, Micrognathia, Thin vermilion border, Depressed nasa... |
ORPHA:171839 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Low-set ears, Macroglossia, Everted lower lip vermilion, Short neck, Macrotia, Transp... |
OMIM:616789 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Epicanth... |
ORPHA:90646 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Attached earlobe, Upslanted palpebral fissure, Micrognathi... |
ORPHA:436245 |
| Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Abnormal helix morphology, Macroglossia,... |
ORPHA:61 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, 11 pairs of ribs, Microdontia, Radioulnar... |
OMIM:245600 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Malar flatte... |
OMIM:158170 |
| Craniosynostosis 3 |
|
Dental malocclusion, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syno... |
OMIM:615314 |
| Cohen Syndrome |
|
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Neutropenia, Aplasia/Hypop... |
ORPHA:193 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal antihelix morphology, Narrow mouth, High, narrow palate, Malar flattening, Micrognathia,... |
ORPHA:1968 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Low-set ears, Tooth agenesis, Micrognathia, Camptodactyly of finger, D... |
ORPHA:2863 |
| Sandestig-Stefanova Syndrome |
|
High palate, Angulated antihelix, Muscular ventricular septal defect, Retrognathia, Short neck, O... |
OMIM:618804 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Thickened helices, Narrow mouth, Tooth agenesis, Narrow palate, Malar flatt... |
ORPHA:1555 |
| Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Plagiocephaly, High, narrow palate, Cleft palate, Retrognathia, Mi... |
OMIM:617808 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Anemia, Short neck, Long philtrum, Neonatal death, Camptodactyly, Hypothyroidism, P... |
OMIM:608104 |
| Otofacioosseous-Gonadal Syndrome |
|
Sensorineural hearing impairment, Carpal synostosis, Protruding ear, Malar flattening, Depressed ... |
OMIM:601976 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Bulbous nose, Upslanted palpebral fissure, Micrognathia, Depressed nasal bridge, L... |
OMIM:615761 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
| Cornelia De Lange Syndrome 5 |
|
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Long eyelashes, Retrognathia,... |
OMIM:300882 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Abnormal helix morphology, Short p... |
ORPHA:217017 |
| Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thick eyebrow, Tooth malposition, Upslanted palpebral fissure, Micrognathia, Short 5th finger, He... |
OMIM:618608 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Retrognathia, Micrognathia, Ventricular septal defect, Hearing impairment, Patent d... |
OMIM:617516 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... |
OMIM:619519 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Oxycephaly, Cleft palate, Cranio... |
OMIM:201050 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose, Synophrys, Macrotia, Anteverted ears |
OMIM:615541 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Failure to thrive, Dental malocclusion, Anodontia, Supernumerary tooth, Narrow palat... |
OMIM:264475 |
| Cebalid Syndrome |
|
High palate, Abnormal pinna morphology, Plagiocephaly, Thick eyebrow, Depressed nasal ridge, Plat... |
OMIM:618774 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Pseudopapilledema, Downslanted palpebral fissures, Wide nasal base, Hi... |
ORPHA:2980 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... |
ORPHA:95430 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... |
OMIM:619717 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Protruding ear, Hypoplasia of the zygomatic bone |
ORPHA:319171 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Ath... |
ORPHA:231160 |
| Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Overfolded helix, Tracheoesophageal fistula, De... |
ORPHA:138 |
| 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 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Microphthalmia, Syndromic 9 |
|
Low-set ears, Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmo... |
OMIM:601186 |
| Chromosome 16Q22 Deletion Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Wide anterior fontanel, Failure to thrive, High p... |
OMIM:614541 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Nager Syndrome |
|
Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Atre... |
ORPHA:245 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Anal atresia, Velopharyngeal insufficiency, Atria... |
ORPHA:363444 |
| Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... |
OMIM:603463 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Sweeney-Cox Syndrome |
|
High palate, Wide anterior fontanel, Narrow mouth, Short clavicles, Cleft palate, Microtia, Overf... |
OMIM:617746 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Sensorineural hearing impairment, Conductive hearing impairment, Plagiocephaly, Malar flattening,... |
OMIM:618672 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve ... |
OMIM:218000 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Sensorineural hearing impairment, Micrognathia, Facial palsy, Depressed nasal bridge, Midface ret... |
OMIM:614744 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Dental malocclusion, Fatigable weakness, Mandibular prognathia, Facial palsy, Respir... |
OMIM:608931 |
| Cleidocranial Dysplasia |
|
Sleep apnea, Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glosso... |
ORPHA:1452 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... |
OMIM:615502 |
| Toluene Embryopathy |
|
Micrognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone |
ORPHA:1920 |
| Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Depressed nasal bridge, Brachyturricep... |
OMIM:613849 |
| Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... |
OMIM:185800 |
| Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... |
OMIM:601853 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... |
OMIM:220210 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone |
ORPHA:1778 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Low-set ears, Atrial septal defect, Tetralogy of Fallot, Pulmonary... |
OMIM:618316 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Horizontal eyebrow, Short nose, Op... |
ORPHA:369891 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Protruding ear, Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of low... |
ORPHA:1166 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Hallermann-Streiff Syndrome |
|
High palate, Sparse eyebrow, Thin calvarium, Optic disc coloboma, Downslanted palpebral fissures,... |
OMIM:234100 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Hypogonadotr... |
OMIM:147770 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| 20Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Tented upper lip vermilion, M... |
ORPHA:363659 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Radioulnar synostosis, Short nose, Enamel agenesis, Thick eyebrow, Long philtrum, A... |
OMIM:614701 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Broad nasal ti... |
OMIM:136760 |
| Clark-Baraitser Syndrome |
|
Large earlobe, High palate, Wide mouth, Brachycephaly, Low hanging columella, Upslanted palpebral... |
OMIM:617752 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Micrognathia, Abnormality of the dentition, D... |
OMIM:616901 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,... |
OMIM:616331 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Brachycephaly, Slender nose, Micrognathia, Decreased motor nerve conduction velocity,... |
OMIM:615419 |
| Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Low-set ears, Protruding ear, Bicuspid aortic valve, Microtia, Overfold... |
OMIM:618619 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Bulbous nose, Micrognathia, Downslanted palpebral fissures, Epicanthus, Hearing impa... |
OMIM:613604 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Lacrimal duct atresia, Aplasia/Hypoplasia involvi... |
ORPHA:1529 |
| Potocki-Shaffer Syndrome |
|
Parietal foramina, Short philtrum, Wormian bones, Downslanted palpebral fissures, Epicanthus, Tel... |
OMIM:601224 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Depressed nasal bridge, W... |
ORPHA:1513 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Sensorineural hearing impairment, Malar flattening, Patent ductus arteriosus, Low-set ears, Midfa... |
OMIM:122430 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Convex nasal ridge, Malar flattening, Respiratory insufficiency, O... |
ORPHA:93262 |
| Short Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Hypodontia, Small for gestational age, Mic... |
OMIM:269880 |
| Variant Abeta2M Amyloidosis |
|
Abnormality of the tongue, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, Amy... |
ORPHA:314652 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... |
OMIM:600987 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, High, narrow palate, Retrognathia, Micrognathia, Flat oc... |
ORPHA:2780 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Decreased body weight, Joint contracture of the hand, Cleft palate, Micrognathia, Ol... |
OMIM:600325 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Microtia, Atrioventricular canal defect, Micrognathia, Hypoplas... |
ORPHA:40366 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Retrognathia, Convex nasal ridge, Abnormally large globe, Ptosis |
OMIM:210700 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Upslanted palpebral fissure, Retrognathia, Epicanthus, Microphthalmia,... |
ORPHA:2528 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased body weight, Small for gestational age, Upslanted palpebral fissure, Hypoplasia of the ... |
ORPHA:93950 |
| Cleft Lip/Palate |
|
Conductive hearing impairment, Dental malocclusion, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Cleft palate, Anterior plagiocephaly, Micrognathia, Long pal... |
ORPHA:163649 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Microtia, Prominent crus of helix, ... |
OMIM:101400 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Short metacarpal, Cleft palate, Coronal craniosynostosis, Micrognathia, ... |
OMIM:614078 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Camptodactyly o... |
ORPHA:1388 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Malar flattening, Microtia, Cleft palate, Micrognathia, Downslante... |
OMIM:248390 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Abnormal oral cavity morphology, Stenosis of the external auditory canal, Micrognathia, Short phi... |
ORPHA:1516 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Ververi-Brady Syndrome |
|
High palate, Wide mouth, Everted lower lip vermilion, Cupped ear, Transposition of the great arte... |
OMIM:617982 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... |
ORPHA:794 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Malar prominence, Hypoplasia of the zygomatic bone, Macrotia, Mandibular prognathia |
ORPHA:2715 |
| Kabuki Syndrome 2 |
|
High palate, Cleft palate, Broad nasal tip, Depressed nasal tip, Long eyelashes, Sparse lateral e... |
OMIM:300867 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Craniosynostosis, Microtia, ... |
ORPHA:2145 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of the ear, Malar flattening, Delayed cranial suture closure, Narrow nasal bridge, He... |
ORPHA:2511 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Sleep apnea, Coronal craniosynostosis, Shallow orbits, Atresia of ... |
OMIM:123500 |
| Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Upper airway obstruction, Neonatal respi... |
OMIM:261800 |
| Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... |
OMIM:609166 |
| Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygoma... |
ORPHA:1790 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Atrial septal defect, High, narrow palate, Cleft ... |
ORPHA:261330 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Abnormal pinna morphology, Craniosynostosis, Shallow orbits, Brachyturricephaly, Dow... |
OMIM:182212 |
| Marcus-Gunn Syndrome |
|
Cleft palate, Cleft lip, Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnorm... |
ORPHA:91412 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Conductive hearing impairment, Trigonocephaly, Malar flattening, Upslanted ... |
OMIM:610536 |
| Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... |
OMIM:615706 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Downslanted palpebral fissures, Epicanthus, Anteverted nares, M... |
OMIM:618292 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... |
OMIM:615415 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Frontal bossing, Long philtrum, Short nose, Microretrognathia |
OMIM:218010 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Long phi... |
ORPHA:2563 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sleep apnea, Sparse eyebrow, Cleft palate, Small hand, Micrognathia, Depressed nasal bridge, Down... |
ORPHA:459061 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Scaphocephaly, Cleft palate, Dolichocephal... |
OMIM:300209 |
| Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Microretrognathia, Cryptorchidism, Abnormality of the dentition, Preauricular pit... |
ORPHA:1786 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Conductive hearing impairment, Narrow nasal bridge, Atresia of... |
ORPHA:3236 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short palpebral fissure, Abnormally large globe, Downslanted palpebral fissures, Sh... |
OMIM:611936 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... |
OMIM:157980 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Protruding ear, Bulbous nose, Short toe, Malar flattening, Upslanted palpebral fissure, Short nos... |
OMIM:613458 |
| Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Low-set ears, Mitral stenosis, Atrial septal defect, Cleft palate,... |
ORPHA:2008 |
| Perlman Syndrome |
|
High, narrow palate, Retrognathia, Micrognathia, Dolichocephaly, Wide nasal bridge, Abnormality o... |
ORPHA:2849 |
| Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, ... |
ORPHA:949 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Cleft palate, Small for gestational age, Short ribs, Micrognathia, Short femur... |
OMIM:616897 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Recurrent o... |
OMIM:618254 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Dental crowding, Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Cry... |
ORPHA:435938 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Br... |
OMIM:619736 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Low-set ears, Narrow mouth, Abnormal pinna morphology, Micrognathia, Long philtrum, ... |
OMIM:613457 |
| Radio-Tartaglia Syndrome |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Downslanted palpeb... |
OMIM:619312 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
High palate, Failure to thrive, Abnormal pinna morphology, Protruding ear, Decreased body weight,... |
OMIM:617452 |
| Monosomy 18P |
|
Abnormal antihelix morphology, Protruding ear, Microphthalmia, Tooth malposition, Cleft palate, H... |
ORPHA:1598 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Short philtrum, Upper limb undergrowth, Short nose, Hypoplasia of the max... |
ORPHA:439822 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Optic nerve hypoplasia, Depressed nasal bridge, Downslanted palpebral fissures, Tel... |
OMIM:618828 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Wide anterior fontanel, Convex nasal ridge, Retrognathia, Micrognathia, Teleca... |
OMIM:263210 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Short neck, Long philtrum, ... |
ORPHA:1340 |
| Bangstad Syndrome |
|
Retrognathia, Convex nasal ridge, Abnormally large globe, Small for gestational age |
OMIM:210740 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Protruding ear, Hypodontia, Micrognathia, Abnormality of the dentitio... |
ORPHA:3253 |
| Hajdu-Cheney Syndrome |
|
Cleft palate, Abnormality of the dentition, Short neck, Ventricular septal defect, Umbilical hern... |
ORPHA:955 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Abnormal pinna morphology, Microretrognathia, Microtia, Short philtrum, Downslanted palpebral fis... |
OMIM:613603 |
| Cornelia De Lange Syndrome 2 |
|
High palate, Brachycephaly, Thick eyebrow, Small hand, Micrognathia, Limited elbow movement, Down... |
OMIM:300590 |
| Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Abnormal fift... |
ORPHA:353253 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... |
OMIM:184460 |
| Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Attached earlobe, Limb ... |
OMIM:616920 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Protruding ear, Narrow mouth, Short palpebral fis... |
OMIM:608572 |
| Intellectual Disability And Myopathy Syndrome |
|
Sleep apnea, Dental malocclusion, Broad nasal tip, Congenital hip dislocation, Limited elbow exte... |
OMIM:619719 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Telecanthus, Anteverted nares, Low-set ears, Brachycephaly, Midface retrus... |
ORPHA:1532 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Three M Syndrome 2 |
|
High palate, Dental malocclusion, Protruding ear, Prominent nasal tip, Malar flattening, Small fo... |
OMIM:612921 |
| Cri-Du-Chat Syndrome |
|
High palate, Abnormal pinna morphology, Microretrognathia, Small for gestational age, Stenosis of... |
OMIM:123450 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Midface retrusion, Absen... |
OMIM:211910 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... |
ORPHA:1387 |
| Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Sparse eyelashes, Stenosis... |
OMIM:616367 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviation of the wrist,... |
OMIM:618577 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Cleft Velum |
|
Conductive hearing impairment, Hypoplasia of the maxilla, Recurrent otitis media |
ORPHA:99772 |
| Kbg Syndrome |
|
EEG abnormality, Thick eyebrow, Cleft palate, Long palpebral fissure, Oligodontia, Bilateral cond... |
ORPHA:2332 |
| Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Downslanted palpebral fissur... |
OMIM:613717 |
| Chung-Jansen Syndrome |
|
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Sho... |
OMIM:617991 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Keppen-Lubinsky Syndrome |
|
High palate, Failure to thrive, High, narrow palate, Abnormally large globe, Micrognathia, Short ... |
OMIM:614098 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Narrow mouth, Thin vermilion border, Micrognathia, Respiratory insufficiency, ... |
ORPHA:1895 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Large earlobe, Low-set ears, Hypodontia, Retrognathia, Optic nerve... |
OMIM:301056 |
| Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Upper eyelid c... |
ORPHA:398156 |
| Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Branchial fistula,... |
ORPHA:52429 |
| Mandibuloacral Dysplasia |
|
High palate, Dental crowding, Short clavicles, Abnormally large globe, Delayed cranial suture clo... |
ORPHA:2457 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Downslanted palpebral fis... |
OMIM:305620 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Co... |
OMIM:157800 |
| 2Q32Q33 Microdeletion Syndrome |
|
High palate, Narrow mouth, Convex nasal ridge, Cleft palate, Thin vermilion border, Micrognathia,... |
ORPHA:251019 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Abnormality of the ear, EEG abnormality, Retrognathia, Open mouth, Broad nasal... |
ORPHA:391372 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Stillbirth, Multiple unerupted teeth |
OMIM:183300 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, High palate, EEG abnormality, Aspiration pneumonia, Micrognathia, Pr... |
ORPHA:314655 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Ventricular septal defect, Umbilical hernia, Mandibular prognathia, Widely-spaced maxillary centr... |
OMIM:301040 |
| Myasthenic Syndrome, Congenital, 19 |
|
High palate, Retrognathia, Micrognathia, Respiratory insufficiency, Facial palsy, Low-set ears, P... |
OMIM:616720 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Peripheral pulmonary artery stenosis, Conductive hearing impairment, Joint contractur... |
OMIM:280000 |
| Hao-Fountain Syndrome |
|
Central sleep apnea, Delayed cranial suture closure, Large fontanelles, Low-set ears, Trigonocephaly |
OMIM:616863 |
| Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Malar flattening, Cleft palate, Esophageal atre... |
OMIM:101200 |
| Potocki-Shaffer Syndrome |
|
Parietal foramina, Micrognathia, Short philtrum, Broad nasal tip, Depressed nasal tip, Downturned... |
ORPHA:52022 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Downslanted... |
ORPHA:251028 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Protruding ear, Narrow mouth, Micrognathia, Camptodactyly of finger, Optic atrophy, Short nose, R... |
ORPHA:1495 |
| Grant Syndrome |
|
Joint dislocation, Open bite, Micrognathia, Depressed nasal bridge, Wormian bones, Frontal bossin... |
ORPHA:2097 |
| Hamamy Syndrome |
|
High palate, Wide mouth, Sparse eyebrow, Craniosynostosis, Sparse lateral eyebrow, Micrognathia, ... |
OMIM:611174 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Apnea, Cleft palate, Overfolded helix, Delayed closure of the anterior fontanelle, T... |
OMIM:300373 |
| Zimmermann-Laband Syndrome |
|
Sensorineural hearing impairment, Large fleshy ears, High palate, Wide mouth, Thick eyebrow, Supe... |
ORPHA:3473 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Congenital hip dislocat... |
OMIM:300280 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Bulbous nose, Plagiocephaly, Cachexia, Short philtrum, Downslanted palpebral fissu... |
OMIM:616801 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High palate, Decreased body weight, High, narrow palate, Depressed nasal bridge, Long palpebral f... |
OMIM:608027 |
| Al Kaissi Syndrome |
|
Torticollis, Brachycephaly, Abnormal pinna morphology, Decreased body weight, High, narrow palate... |
OMIM:617694 |
| Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
| Trisomy 13 |
|
Abnormal antihelix morphology, Low-set ears, Sensorineural hearing impairment, Abnormal helix mor... |
ORPHA:3378 |
| Apert Syndrome |
|
Cleft palate, Depressed nasal bridge, Brachyturricephaly, Micromelia, Delayed eruption of teeth, ... |
ORPHA:87 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abn... |
OMIM:182290 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Abnormally large globe, Micrognathia, Broad nasal tip, Do... |
ORPHA:1655 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Sensorineural hearing impairment, Dental malocclusion, Wide mouth, Malar flattening, Everted lowe... |
ORPHA:85321 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Wide mouth, Short philtrum, Microdontia, Optic atrophy, Abnormal lip morpho... |
ORPHA:2707 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Cleft palate, Overfolded helix, Abnormality of the dentition, ... |
ORPHA:567 |
| Antley-Bixler Syndrome |
|
Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostosis, Delayed cranial suture closure, Ca... |
ORPHA:83 |
| Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Wide anterior fontanel, High palate, Upslanted palpebral... |
ORPHA:3309 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Abnormal helix morphology, Joint contracture of the hand, Cleft palate, Stippled chondral ... |
OMIM:214110 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
High palate, Bulbous nose, Cleft palate, Depressed nasal bridge, Microdontia, Long eyelashes, Del... |
OMIM:610759 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Short philtrum, Downslanted palpebral fissures, Tremor, Open mouth, Thick lower lip ... |
OMIM:618342 |
| Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Macrodontia, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, S... |
OMIM:300577 |
| Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Dolichocephaly, Depressed nasal bridge, Enamel hypoplasia, Hypop... |
OMIM:253250 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Biparietal narrowing, Open bite, Abnormality of dental morpholo... |
ORPHA:3079 |
| Halperin-Birk Syndrome |
|
High palate, Congenital diaphragmatic hernia, Flexion contracture, Micrognathia, Death in childho... |
OMIM:618651 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Macrotia, Crypto... |
OMIM:619797 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Conductive hearing impairment, Protruding ear, Bulbous nose, Thick eyebrow, Joint dislocation, Su... |
ORPHA:502 |
| Orofaciodigital Syndrome Vi |
|
High palate, Failure to thrive, Conductive hearing impairment, Cleft upper lip, Accessory oral fr... |
OMIM:277170 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Micrognathia, Tra... |
ORPHA:958 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Mi... |
OMIM:206920 |
| Distal Monosomy 17Q |
|
Abnormal cardiac septum morphology, Narrow mouth, Microtia, Respiratory insufficiency, Aplasia/Hy... |
ORPHA:1597 |
| Brooke-Spiegler Syndrome |
|
Salivary gland neoplasm, Abnormality of the neck, Abnormality of the auditory canal, Abnormality ... |
ORPHA:79493 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Microtia, Limb undergrowth, Epicanthus, Short nose, Oxyce... |
ORPHA:221054 |
| German Syndrome |
|
High palate, Abnormal eyebrow morphology, Everted lower lip vermilion, Dolichocephaly, Micrognath... |
ORPHA:2077 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, EEG abnormality, Abnormality of the dentitio... |
ORPHA:1858 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Upslanted palpebral fissure, Coronal craniosynostosis, Abnormality of the... |
ORPHA:228390 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Short palm, Sleep apnea, Abnormal pinna morphology, Bulbous nose, Microretrognathia, Long nose, C... |
ORPHA:261211 |
| Silver-Russell Syndrome 3 |
|
Retrognathia, Low-set ears, Cryptorchidism, Patent ductus arteriosus |
OMIM:616489 |
| Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Malar flat... |
OMIM:610253 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Sparse eyelashes, Micrognathia, Downslanted palpebral fi... |
OMIM:300946 |
| Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Malar flattening, Cle... |
ORPHA:921 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Short neck, Optic atrophy, Ventricular septal defect, Umbilical her... |
OMIM:601808 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Conductive hearing impairment, Thick eyebrow, Supernumerary tooth, Overfolded helix,... |
OMIM:617412 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Malar flatteni... |
OMIM:608257 |
| Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... |
ORPHA:776 |
| Chromosome 5P13 Duplication Syndrome |
|
High palate, Bulbous nose, Short palpebral fissure, Upslanted palpebral fissure, Craniosynostosis... |
OMIM:613174 |
| Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Sensorineural hearing impairment, Malar flattening, Cleft... |
ORPHA:560 |
| Recombinant 8 Syndrome |
|
Cleft palate, Abnormality of the dentition, Ventricular septal defect, Abnormality of the outer e... |
ORPHA:96167 |
| Cree Mental Retardation Syndrome |
|
Micrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ribs, Triangular face, La... |
OMIM:606851 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Frontal bossing, Low-set ears, Brachyce... |
OMIM:264470 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Failure to thrive, Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Micrognathi... |
OMIM:619941 |
| Digeorge Syndrome |
|
Hydrocele testis, High palate, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... |
OMIM:188400 |
| Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Short nose, Delayed closure o... |
OMIM:311300 |
| Orofaciodigital Syndrome Type 1 |
|
High palate, Accessory oral frenulum, Hypodontia, Cleft palate, Open bite, Lip pit, Micrognathia,... |
ORPHA:2750 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Failure to thrive, Brachycephaly, Decreased body weight, Retrognathia, Long palpebra... |
ORPHA:505237 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Bulbous nose, Cleft palate, Abnormality of canine, Short nose, Tented upper lip vermilion, Microp... |
ORPHA:364577 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia |
OMIM:301200 |
| Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Upslanted palpe... |
OMIM:617883 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Upslanted palpebral fissure, Aplasi... |
ORPHA:3082 |
| Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Branchial fistula, Microdontia, Euthyroid goiter, Microtia, Cupped ear... |
OMIM:113650 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Low-set ears, Sensorineural hearing impairment, Retrognathia, Cupped ear, Short neck... |
OMIM:300472 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, Depressed nasal bridge, Downslanted palpebral fissures, Short palpebral fissure, Hig... |
OMIM:612513 |
| Osteogenesis Imperfecta, Type Xx |
|
High palate, Bulbous nose, Narrow palate, Plagiocephaly, Retrognathia, Highly arched eyebrow, Age... |
OMIM:618644 |
| Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Micrognathia, Depressed nasal bridge, Long philtrum, Micromelia, Mesomelia, Sho... |
ORPHA:93329 |
| Prolidase Deficiency |
|
Abnormality of the middle ear, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Hea... |
ORPHA:742 |
| Baraitser-Winter Syndrome 1 |
|
Sensorineural hearing impairment, Failure to thrive, Wide mouth, Cleft upper lip, Trigonocephaly,... |
OMIM:243310 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Abnormal helix morphology, Cleft palate, Atrioventricular canal defect, Ventricular ... |
ORPHA:453499 |
| Meacham Syndrome |
|
