| Verheij Syndrome |
|
Wide nasal bridge, Broad nasal tip, Branchial cyst, Anteverted nares, Truncus arteriosus, Ventric... |
OMIM:615583 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Wide intermamillary distance, Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular ... |
ORPHA:2516 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism, Ventricular... |
ORPHA:401935 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Transposition of the... |
OMIM:231060 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Decreased response to grow... |
OMIM:220210 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... |
OMIM:300845 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Microform Holoprosencephaly |
|
Choanal atresia, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, ... |
ORPHA:280200 |
| Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Sparse lateral eyebrow, Anteverted nares, Right aortic arch, Ventricular ... |
OMIM:617616 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... |
OMIM:609637 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Ventricular septal defect, Underdeveloped nasal alae, Truncus arteriosus |
OMIM:601355 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Tetralogy of Fa... |
ORPHA:3426 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Highly arched eyebrow, Wide nasal bridge, Wide intermamillary distance, D... |
OMIM:618316 |
| Stankiewicz-Isidor Syndrome |
|
Prominent nose, Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Abnormal optic dis... |
OMIM:617516 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... |
ORPHA:185 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Wide nasal bridge, Right aortic arch with mirror image branching, Multil... |
OMIM:601186 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Kyphosis, Sacral dimple, Cryptorchidism, Inguinal hernia, Ventricular sept... |
OMIM:609029 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Verte... |
OMIM:618845 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Complete a... |
OMIM:264480 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Spondylolisthesis, Perimembranous ventricular septal defect, Transposition of t... |
OMIM:617877 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Highly arched eyebrow, Underdeveloped nasal alae, Truncus arteriosus |
OMIM:611867 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Encephalocele, Atrial septal defect, Hydrocephal... |
ORPHA:93274 |
| Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Tetralogy of Fallot, Anteverted nares, Cryptorchidism, Ventricular septal... |
OMIM:179613 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Right aortic arch, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Dextrocardia |
OMIM:617577 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... |
OMIM:620294 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Cryptorchidism, Ventricular septal defect, Agenesis of corpus call... |
ORPHA:77298 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Hypogonadism, Sacral dimple, Cryptorchidism, Inguinal hernia, Agenesis of ... |
ORPHA:96170 |
| Snijders Blok-Campeau Syndrome |
|
Wide nasal bridge, Umbilical hernia, Prominent nose, Inguinal hernia, Perimembranous ventricular ... |
OMIM:618205 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Ventricular septal defect, Coloboma, Omphalocele, Holoprosencephaly, Scol... |
OMIM:601357 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Wide nasal bridge, Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele,... |
ORPHA:1908 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic hemivertebrae, Agenesis of corpus callosum, Ventricular septal defect, Abnormal optic di... |
ORPHA:508498 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Abnormality of the spleen, Cryptorchidism, Encephalocele, Ventricular sep... |
ORPHA:2162 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... |
ORPHA:1457 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Dysplastic corpus callosum, Cardiomegaly, Perimembra... |
OMIM:620135 |
| Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Wide intermamillary distance, Sparse medial eyebrow, Mu... |
OMIM:618804 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
| Distal Deletion 13Q |
|
Optic atrophy, Iris coloboma, Abnormal form of the vertebral bodies, Primary adrenal insufficienc... |
ORPHA:1590 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Breast aplasia, Atrioventricular canal defect, Anteverted nares, Tricuspi... |
ORPHA:276413 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Right aortic arch, Scimitar anomal... |
OMIM:608978 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Broad nasal tip, Kyphosis, Underdeveloped nasal alae, Decreased response t... |
ORPHA:268261 |
| Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal heart morphology, Fused thoracic vertebrae, Holoprosencephaly, D... |
ORPHA:1445 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Overriding aorta, Atrial sept... |
OMIM:601927 |
| Chromosome 9P Deletion Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Choanal atresia, Wide intermamillary distance, Depresse... |
OMIM:158170 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Abnormal heart morp... |
ORPHA:502430 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Secundum atrial septal defect, Ven... |
OMIM:600987 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Cryptorchidism, Neonatal death, Perimembranous ventricula... |
OMIM:608104 |
| Meier-Gorlin Syndrome 7 |
|
Choanal atresia, Breast aplasia, Thin eyebrow, Complete atrioventricular canal defect, Cryptorchi... |
OMIM:617063 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Abnormal form of the vertebral bodies, Mitral valve prolapse, Polycysti... |
ORPHA:371428 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persi... |
OMIM:620642 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
High anterior hairline, Abnormal heart morphology, Muscular ventricular septal defect, Dysplastic... |
ORPHA:363444 |
| Sotos Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, High anterior hairline, Broad nasal tip, Enlarged naris, ... |
OMIM:117550 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overr... |
ORPHA:3304 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Sparse eyebrow, Multiple muscular ventricular septal defects, Sparse eyelashes... |
OMIM:620070 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Thoracic hemiverte... |
OMIM:301043 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... |
ORPHA:3044 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Optic atrophy, Dilated cardiomyopathy, Encephalocele, Agenesis of corpus callosu... |
OMIM:253800 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Thick eyebrow, Cryptorchidism, Long nasal bridge |
OMIM:620071 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Underdeveloped nasal alae... |
OMIM:192430 |
| Acrocardiofacial Syndrome |
|
Wide nasal bridge, Tetralogy of Fallot, Long eyelashes, Cryptorchidism, Mitral stenosis, Truncus ... |
ORPHA:2008 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Benign Schwannoma |
|
Nasal polyposis, Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular... |
ORPHA:252164 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... |
OMIM:306955 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Splenomegaly, Truncus arteriosus |
OMIM:616589 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Kyphosis, Vas... |
OMIM:603387 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Broad nasal tip, Supernumerary nipple, Anteverted nares, ... |
OMIM:612530 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
| Incontinentia Pigmenti |
|
Optic atrophy, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hyp... |
OMIM:308300 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Aplasia/Hypoplasia of the... |
ORPHA:1727 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Distal Monosomy 7Q36 |
|
Optic atrophy, Wide intermamillary distance, Bulbous nose, Cryptorchidism, Short neck, Holoprosen... |
ORPHA:1636 |
| Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Atrial se... |
OMIM:618354 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Abnormal cranial nerve morphology,... |
ORPHA:990 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale, Decreased n... |
ORPHA:477817 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... |
OMIM:600001 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, A... |
ORPHA:2326 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Cervical C2/C3... |
ORPHA:268882 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Choanal atresia, Depressed nasal bridge, Decreased response to growth hormone... |
OMIM:146510 |
| Hoxha-Aliu Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, High anterior hairline, Abnormal vertebral morphology, ... |
OMIM:620662 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Highly arched eyebrow, Wide intermamillary distance, Tetralogy of Fallot... |
OMIM:300887 |
| 3C Syndrome |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the nipples, Chorioretinal coloboma, Abnormal mitral... |
ORPHA:7 |
| Triploidy |
|
Cryptorchidism, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, Omphalocele, Menin... |
ORPHA:3376 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Choanal atresia, Branchial fistula, Underdeveloped nasal alae, Prominent n... |
ORPHA:261330 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1913 |
| Phaver Syndrome |
|
Depressed nasal bridge, Abnormal form of the vertebral bodies, Myelomeningocele, Butterfly verteb... |
ORPHA:2876 |
| Barber-Say Syndrome |
|
Wide nasal bridge, Breast aplasia, Bulbous nose, Anteverted nares, Sparse or absent eyelashes, Ge... |
ORPHA:1231 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Chorioretinal coloboma, Abnorma... |
ORPHA:284169 |
| 14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Depressed nasal bridge, Sparse lateral eyebrow, Ventricular septal defect,... |
ORPHA:261120 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Frontal upsweep of hair, Cryptorchidism, Mitral valve prolapse, Agenesis o... |
OMIM:180849 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Hypoparathyroidism, ... |
ORPHA:567 |
| Ulnar-Mammary Syndrome |
|
Breast aplasia, Cryptorchidism, Ventricular septal defect, Hypoplastic nipples, Delayed puberty, ... |
ORPHA:3138 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Proboscis, Partial agenesis of the corpus callosum, Anteverted nares, V... |
OMIM:619895 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Hypertrichosis, Muscular ventricular septal defect, Butterfly vertebrae, Low pos... |
OMIM:619227 |
| Scalp-Ear-Nipple Syndrome |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the nipples, Sparse pubic hair, Lateral ventricle d... |
OMIM:181270 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Anteverted nares, Short nose, Short neck |
ORPHA:2015 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Ventricular septal defect, Agenesis of ... |
ORPHA:261236 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Monosomy 18P |
|
Wide nasal bridge, Alopecia, Wide intermamillary distance, Kyphoscoliosis, Low posterior hairline... |
ORPHA:1598 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Vertebral segmentation defect, Overriding aorta, Omphalo... |
ORPHA:3186 |
| Halperin-Birk Syndrome |
|
Optic atrophy, Semilobar holoprosencephaly, Umbilical hernia, Long eyelashes, Inguinal hernia, Ag... |
OMIM:618651 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Polysplenia, Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abn... |
ORPHA:244 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Omphalocele |
ORPHA:945 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, S... |
OMIM:615415 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Short nose |
ORPHA:2370 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Patent foramen ovale, Agenesis of ... |
OMIM:616854 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Agenesis of corpus callosum,... |
OMIM:615433 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Cholelithiasis, Abnormality of the hairline, Prominent nose, Double outlet rig... |
OMIM:614886 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... |
ORPHA:755 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... |
OMIM:147250 |
| Femoral-Facial Syndrome |
|
Absent vertebra, Underdeveloped nasal alae, Dysplastic sacrum, Cryptorchidism, Encephalocele, Tru... |
OMIM:134780 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Ventricular septal de... |
OMIM:301040 |
| Charge Syndrome |
|
Chorioretinal coloboma, Abnormal cranial nerve morphology, Cryptorchidism, Aqueductal stenosis, H... |
ORPHA:138 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Charge Syndrome |
|
Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, Hypoparathyroi... |
OMIM:214800 |
| Fliedner-Zweier Syndrome |
|
Bulbous nose, Ventricular septal defect, Bicuspid aortic valve, Meningocele, Hypoplastic aortic a... |
OMIM:620511 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Wide nasal bridge, Highly arched eyebrow, Tetralogy of Fallot, Anteverted nares, Thick eyebrow, V... |
OMIM:614701 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, High anterior hairline, Hydrocele testis, Sparse scalp hair |
OMIM:620062 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Ventricular septal defect, Atrial septal defect, Patent ductus ar... |
ORPHA:79345 |
| Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Muscular ventricular se... |
ORPHA:79324 |
| Short-Rib Thoracic Dysplasia 12 |
|
Wide intermamillary distance, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Ingu... |
OMIM:269860 |
| Holoprosencephaly 11 |
|
Polysplenia, Thick eyebrow, Agenesis of corpus callosum, Holoprosencephaly, Synophrys |
OMIM:614226 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Broad nasal tip, Kyphosis, Decreased response to growth hormone stimulati... |
OMIM:618223 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secondary growth hormone deficiency, Depressed nasal bridge, Secundum atri... |
ORPHA:1600 |
| Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Alobar holoprosencephaly, Agenesis of corpus callosum, Bifid nose, Holo... |
OMIM:610828 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Butterfly vertebrae, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Hirs... |
OMIM:301056 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Inverted nipples, Ventricular septal defect, Bicuspid aortic valve, Short ... |
OMIM:618164 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... |
ORPHA:2306 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Agenesis of corpus callosum, Holoprosencep... |
OMIM:202650 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Dysplastic ao... |
ORPHA:508488 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Thick eyebrow, Generalized hirsutism, Delayed puberty, Short nose, Synophrys |
ORPHA:217340 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Wide nasal bridge, High anterior hairline, Depressed nasal bridge, Bulbou... |
OMIM:301022 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Breast aplasia, Trichorrhexis nodosa, Aplasia/Hypoplasia of... |
ORPHA:238468 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... |
ORPHA:980 |
| Jacobsen Syndrome |
|
Optic atrophy, Depressed nasal bridge, Annular pancreas, Chorioretinal coloboma, Anteverted nares... |
OMIM:147791 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism, Abnormality o... |
ORPHA:1926 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Decreased nerve conduction velocity, Ventricular septal defect, Bicuspid ao... |
OMIM:616652 |
| Cardiospondylocarpofacial Syndrome |
|
Wide nasal bridge, Muscular ventricular septal defect, Decreased testicular size, Bulbous nose, A... |
OMIM:157800 |
| Ogden Syndrome |
|
Flared nostrils, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Short neck, At... |
OMIM:300855 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Gillespie Syndrome |
|
Aniridia, Truncus arteriosus |
OMIM:206700 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Aplasia/Hypoplasia of the breasts, Ectopic anterior pituitary gland,... |
ORPHA:95494 |
| Digeorge Syndrome |
|
Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Patent ductus arterios... |
OMIM:188400 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal def... |
OMIM:210710 |
| Fryns Syndrome |
|
Wide nasal bridge, Abnormal aortic arch morphology, Aplasia/Hypoplasia of the nipples, Wide inter... |
ORPHA:2059 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Bicuspid aortic valve, Short neck, Atrial septal defect, Patent ductus arteriosu... |
OMIM:612474 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Abnormal heart morphology, Right aortic arch, Cryptorchidism, Kyphoscoliosis, Bicuspid aortic val... |
OMIM:301111 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism, Abnormality of the pulmonary art... |
ORPHA:1166 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Hypertrichosis, Inverted nipples, Splenomegaly, Low anterior hairl... |
OMIM:608779 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Abnormal heart morphology, Anteve... |
ORPHA:2209 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Cryptorchidism, Ventricular septal defect, Peripheral axonal neuropathy, Thor... |
OMIM:619503 |
| Lambotte Syndrome |
|
Semilobar holoprosencephaly, Convex nasal ridge, Ventricular septal defect |
OMIM:245552 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Scoliosis, Inguinal hernia, Short nose |
OMIM:618379 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
| Congenital Tracheomalacia |
|
Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Tetralogy of ... |
ORPHA:95430 |
| Gapo Syndrome |
|
Sparse hair, Optic atrophy, Alopecia, Sparse eyebrow, Depressed nasal bridge, Umbilical hernia, R... |
OMIM:230740 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Dextrot... |
OMIM:619995 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Wide nasal bridge, Dry hair, Muscular ventricular septal defect, Low anterior hairline, Dysplasti... |
OMIM:618569 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Highly arched eyebrow, Wide nasal bridge, Chorioretinal coloboma, Antevert... |
OMIM:243310 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Wide nasal bridge, Wide intermamillary distance, Tetralogy of Fallot, Hyp... |
ORPHA:251071 |
| Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Umbilical hernia, Supernumerary nipple, Bulbous nose, Cryptorchidism, Pat... |
OMIM:613884 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Preductal coarctation of the aorta, Abnormal vertebral morphology, Stillb... |
OMIM:215045 |
| 49,Xxxxy Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Hypogonadism, Decreased testicular size, Type II d... |
ORPHA:96264 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Cryptorchidism, Convex nasal ridge, Scoliosis, Short nose |
ORPHA:1695 |
| Phace Syndrome |
|
Iris coloboma, Ectopic thyroid, Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphol... |
ORPHA:42775 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Hydrocephalus, Atrial septal defect, Hypoplastic aortic arch, Patent ductus arter... |
OMIM:614846 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Thoracic platyspondyly, Anteverted nares, Increased intervertebral space,... |
OMIM:618961 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Depressed nasal bridge, Ectopic anterior pituitary gland, Sandwich appearance of vertebral bodies... |
OMIM:620558 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... |
ORPHA:1200 |
| Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell |
ORPHA:570 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly |
OMIM:300706 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Lo... |
ORPHA:449400 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Proteus Syndrome |
|
Depressed nasal bridge, Venous malformation, Splenomegaly, Kyphoscoliosis, Lymphangioma, Spinal c... |
OMIM:176920 |
| Pierpont Syndrome |
|
Abnormal peripheral nervous system morphology, High anterior hairline, Wide intermamillary distan... |
OMIM:602342 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Peripheral pulmonary artery stenosis, Wide intermamillary distance, Lumbar h... |
ORPHA:163956 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Wide anterior fontanel, Umbilical hernia, Ventricular septal defect, Omph... |
ORPHA:2143 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Long eyelashes, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum,... |
OMIM:618577 |
| Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Holoprosencephaly, Scoliosis, Alobar holoprosencephaly, Semilobar ho... |
OMIM:157170 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Prominent nasal bridge, Overriding a... |
ORPHA:1110 |
| 8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Pul... |
ORPHA:251076 |
| Trisomy 18 |
|
Iris coloboma, Choanal atresia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:3380 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Cryptorchidism, Absent nares, Adrenal hypoplasia, Abnormal cardi... |
ORPHA:2166 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Wide nasal bridge, Bulbous nose, Cryptorchidism, Inguinal hernia, Agenes... |
ORPHA:250989 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Short nose, Anteverted nares, Cryptorchidism, Low posterior hairline... |
ORPHA:2701 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Absence of the sacrum, Atrioventricular canal defect, De... |
OMIM:270100 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Abnormal he... |
OMIM:184705 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Alopecia, Coarse hair, Wide intermamillary distance, Anteverted nares, Na... |
ORPHA:75389 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Wide intermamillary distance, Umbilical hernia, Anteverted nares, Short c... |
ORPHA:171839 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Anterior basal enc... |
OMIM:136760 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... |
OMIM:605376 |
| Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Optic atrophy, Choanal atresia, Wide intermamillary distance, Kyphosis, Abnorm... |
ORPHA:818 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Holoprosencephaly, Hydrocephalus |
OMIM:617967 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Prominent nasal bridge, Ventricular septal defect, Aganglionic megacolon, Atrial se... |
OMIM:613870 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Dextrotransposition of the great arteries, Anteverted nares, Ventricular s... |
OMIM:618619 |
| Pallister-Hall Syndrome |
|
Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Atrial... |
ORPHA:672 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick eyebrow, Low posterior hairline, Thick hair, Scoliosis, Kyphosis, Short nose, Synophrys |
ORPHA:2429 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly, Short neck |
ORPHA:2570 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Abnormal eyebrow morphology, Alopecia, Absent eyelashes |
ORPHA:90153 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Patchy distortion of vertebrae, Vertebral clefting, Shor... |
OMIM:155050 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
| Alg3-Cdg |
|
Abnormality of the nose, Cardiomyopathy, Inverted nipples, Coarctation of the descending aortic a... |
ORPHA:79321 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Holoprosencephaly, Abnormal cerebral vascular morphology |
ORPHA:2165 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia of the nipples, Highly arched eyebrow, ... |
ORPHA:261311 |
| Muscle-Eye-Brain Disease |
|
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Low posterior hairline, Short ne... |
OMIM:617506 |
| Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Choanal atresia, Broad nasal tip, Depressed nasal bridge, Single nar... |
OMIM:610829 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Optic disc coloboma, Supernumer... |
OMIM:618454 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Aortic root aneurysm, Anteverte... |
OMIM:145420 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defe... |
ORPHA:66634 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defect,... |
ORPHA:2248 |
| Giant Cell Arteritis |
|
Optic atrophy, Vasculitis, Alopecia, Epistaxis, Aortic dissection, Double outlet right ventricle ... |
ORPHA:397 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Patchy distortion of vertebrae, V... |
ORPHA:1248 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Highly arched eyebrow, Tetralogy of Fallot, Anteverted nares, Conotruncal ... |
ORPHA:96147 |
| Rhiny |
|
Anteverted nares, Inguinal hernia, Short nose |
OMIM:180360 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Hypertrichosis, Bulbous nose, Abnorma... |
OMIM:300968 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Holoprosencep... |
ORPHA:250999 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Arachnoid Cyst |
|
Sciatica, Cranial nerve compression, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holop... |
ORPHA:2356 |
| Hartsfield Syndrome |
|
Depressed nasal bridge, Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
| Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Anteverted nares, Punct... |
ORPHA:1914 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Depressed nasal ridge, Abnormal aortic morphology, Coarctation of aorta, Hypothyroidism, Subvalvu... |
ORPHA:1052 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Hypoplastic nipple... |
ORPHA:69085 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Wide nasal bridge, Depressed nasal bridge, Horizontal eyebrow, Umbilical hernia, Abnormal heart m... |
ORPHA:369891 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Hypopigmentation of hair, Anteverted nares, Short nose |
ORPHA:1355 |
| Frank-Ter Haar Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Secundum atrial septal defect, Anteverted nares, Mitral ... |
OMIM:249420 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Sparse hair, Highly arched eyebrow, Peripheral pulmonary artery stenosis, Wide nasal bridge, Depr... |
OMIM:280000 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Umbilical hernia, Bilateral cryptorchidism, Sacral dimple, Prominent nasal bridg... |
OMIM:613544 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Narrow nose, Cryptorchidism, Ventricular septal defect, Coarctation of aort... |
OMIM:617602 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Kyphosis, Bulbous nose, Thick eyebrow, Frontal upsweep... |
OMIM:617061 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Ventricular... |
OMIM:616920 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Abnormality of the autonomic nervous system, Pulmonic s... |
OMIM:611376 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity, Long eyelashes, Abnormal eyebrow morphology, Bulbous nose, A... |
ORPHA:969 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:218000 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Laterall... |
OMIM:300166 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Ventricular septal defect... |
OMIM:619534 |
| Distal Triplication 15Q |
|
Kyphosis, Abnormal heart morphology, Atrial septal defect, Hydrocephalus, Hypoplastic aortic arch... |
ORPHA:314588 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Low posterior hairline, Short nose |
OMIM:300577 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Short nose, Ventricular septal defect |
OMIM:618506 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Dysplastic sacrum, Anteverted nares, Cardiomegaly, Short neck, Severe pla... |
OMIM:613320 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Delayed puberty, Scoliosis, Kyphosis, Short nose |
ORPHA:2598 |
| Codas Syndrome |
|
Depressed nasal bridge, Abnormal form of the vertebral bodies, Anteverted nares, Midline defect o... |
ORPHA:1458 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
| Wrinkly Skin Syndrome |
|
Sparse hair, Wide nasal bridge, Short nail, Umbilical hernia, Muscular ventricular septal defect,... |
OMIM:278250 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Anteverted nares, Short nose, Short neck |
ORPHA:1832 |
| Fumarase Deficiency |
|
Depressed nasal bridge, Optic atrophy, Anteverted nares, Agenesis of corpus callosum, Perimembran... |
OMIM:606812 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Hypertrophic cardiomyopathy, Antev... |
OMIM:270400 |
| You-Hoover-Fong Syndrome |
|
Double aortic arch, Coarctation of aorta, Vascular ring, Kyphoscoliosis |
OMIM:616954 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Anteverted nares, Short neck, Single ventricle, Holoprosencephaly |
OMIM:619879 |
| Kleefstra Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Tetralogy of Fallot, Anteverted nares, Cryptorchidis... |
ORPHA:261494 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Kyphosis, Breast hypoplasia, Narrow nasal tip, Prominent nasal bridge, Cry... |
ORPHA:464306 |
| Odontochondrodysplasia |
|
Platyspondyly, Depressed nasal bridge, Scoliosis, Patent ductus arteriosus, Short nose |
ORPHA:166272 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Short nose, Short neck |
ORPHA:221054 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Scoliosis, Short nose |
OMIM:617183 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Bulbous nose, Cryptorchidism, Patent foramen ovale, Short neck, Coloboma,... |
OMIM:616789 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Bilateral cryptorchidism, Atrioventricular canal defect, Inguinal hernia, Coarct... |
ORPHA:2409 |
| Toriello-Carey Syndrome |
|
Wide anterior fontanel, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Agen... |
ORPHA:3338 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnormality of... |
ORPHA:221098 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Umbilical hernia, Prominent nasolabial fold, Cryptorchidism, Inguinal h... |
ORPHA:2962 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Hypoplasia of the frontal bone, Agenesis of corpus callosum, Maternal dia... |
ORPHA:563612 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... |
ORPHA:391641 |
| Ring Chromosome 8 Syndrome |
|
Low posterior hairline, Anteverted nares, Short nose |
ORPHA:1450 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Wide nasal bridge, Optic atrophy, Broad columella, Hypertrophic cardiomyopathy, Facial hirsutism,... |
OMIM:619383 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Depressed nasal ridge, Aplasia/Hypoplasia of the breasts, Ectopic an... |
ORPHA:90695 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Cryptorchidism, Slender nose, Scoliosis... |
OMIM:615419 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Venous malformation, Spinal arteriov... |
ORPHA:90307 |
| Down Syndrome |
|
Atlantoaxial instability, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventr... |
OMIM:190685 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, Wide nose |
OMIM:125700 |
| Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Breast hypoplasia, Long eyelashes, Cryptorchidism, Inguinal hernia, Hydro... |
ORPHA:1272 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Scoliosis, Short nose |
OMIM:618218 |
| Intellectual Disability-Strabismus Syndrome |
|
Highly arched eyebrow, Depressed nasal bridge, Decreased response to growth hormone stimulation t... |
ORPHA:363528 |
| Craniofrontonasal Syndrome |
|
Wide nasal bridge, Bifid nasal tip, Umbilical hernia, Breast hypoplasia, Cryptorchidism, Agenesis... |
OMIM:304110 |
| Proboscis Lateralis |
|
Choanal atresia, Optic disc coloboma, Chorioretinal coloboma, Proboscis, Abnormal eyebrow morphol... |
ORPHA:141099 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Sparse lateral eyebrow, Anteverted nares, Right aortic arch, Ventricular ... |
ORPHA:513456 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Hypertrophic cardiomyopathy, Cryptorchidism, Peripheral axonal neuropathy, Delayed... |
ORPHA:496790 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Abnormal vertebral epiphysis morphology, Mitral valve prolapse, Short nose |
ORPHA:90653 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Optic atrophy, Depressed nasal bridge, Polysplenia, Umbilical hernia, Tetralo... |
OMIM:201000 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Choanal atresia, Semilobar holoprosencephaly, Narrow nose, Anteverted nare... |
OMIM:301044 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Agenesis of corpus callosum, Hiatus hernia, Truncus arteriosus, Atrial... |
ORPHA:2538 |
| Chops Syndrome |
|
Optic atrophy, Coarse hair, Short nose, Long eyelashes, Thick eyebrow, Anteverted nares, Cryptorc... |
OMIM:616368 |
| 17P13.3 Microduplication Syndrome |
|
Short neck, Inguinal hernia, Short nose, Wide nose |
ORPHA:217385 |
| Periventricular Nodular Heterotopia 7 |
|
Anteverted nares, Cryptorchidism, Ventricular septal defect, Optic disc pallor, Short nose |
OMIM:617201 |
| Ear-Patella-Short Stature Syndrome |
|
Breast aplasia, Cryptorchidism |
ORPHA:2554 |
| Coffin-Siris Syndrome |
|
Wide nasal base, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Atrial s... |
ORPHA:1465 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Ventricular septal defect, Agenesis of... |
OMIM:222448 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Wide intermamillary distance, Splenomegaly, Inverted nipples, Short neck,... |
OMIM:608776 |
| Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Wide nasal bridge, Depressed nasal bridge, Kyphosis, Sacral dimple, Long eyelashes, Anteverted na... |
OMIM:616894 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Arteriovenous malformation, Abnormal heart morphology, Abnormality of the lymphatic sy... |
ORPHA:137667 |
| Distal Duplication 18Q |
|
Progressive intervertebral space narrowing, Choanal atresia, Anteverted nares, Prominent nasal br... |
ORPHA:1716 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Short neck, Pericardial effusion, ... |
OMIM:613885 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Tetralogy of Fallot, Bulbous nose, Ventricular septal defect, Dysplastic corpus... |
ORPHA:2328 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Supernumerary nipple, Abnormal heart morphology, Patent foramen ova... |
ORPHA:457279 |
| Peho-Like Syndrome |
|
Optic atrophy, Short nose |
OMIM:617507 |
| Endocrine-Cerebroosteodysplasia |
|
Wide nasal bridge, Wide intermamillary distance, Depressed nasal tip, Cryptorchidism, Agenesis of... |
OMIM:612651 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Wide anterior fontanel, Cardiomyopathy, Anteverted nares, Cryptorchidism,... |
OMIM:217980 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Vent... |
OMIM:614114 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Cryptorchidism, Ventricular septa... |
OMIM:615948 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Craniodigital-Intellectual Disability Syndrome |
|
Long eyelashes, Thick eyebrow, Narrow nasal bridge, Generalized hirsutism, Abnormal hair pattern,... |
ORPHA:1514 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Dystrophic toenail, Breast hypoplasia, Lumbar hyperlordosis, Crypt... |
ORPHA:1439 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Bulbous nose, Anteverted nares, Ventricular septal defect, Agenesis of corpu... |
ORPHA:1780 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Wide nasal bridge, Annular pancreas, Broad columel... |
ORPHA:2308 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Highly arched eyebrow, Short nose |
ORPHA:438178 |
| Miller-Dieker Syndrome |
|
Sacral dimple, Anteverted nares, Omphalocele, Short nose |
ORPHA:531 |
| Cardiac-Urogenital Syndrome |
|
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Wi... |
OMIM:618280 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Trichorrhexis nodosa, Anteverted nares, Nail dystrophy, Sparse eyelashes, Ventricu... |
OMIM:234050 |
| Foxp1 Syndrome |
|
Recurrent upper respiratory tract infections, Broad nasal tip, Abnormal heart morphology, Frontal... |
ORPHA:391372 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose |
OMIM:613670 |
| Waardenburg Syndrome Type 1 |
|
Wide nasal bridge, White hair, Premature graying of hair, Abnormal hair morphology, Underdevelope... |
ORPHA:894 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Anteverted nares, Inguinal hernia, Agenesis of corpus callosum, Hydrocephalu... |
ORPHA:457284 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Cryptorchidism, Agenesis of corpus callosum, Dysplastic corpus callosum, Aplasia of... |
OMIM:618820 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Underdeveloped nasal alae,... |
ORPHA:83617 |
| Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Type I diabetes mellitus, Aplasia/Hypoplasia of the nipples, Sparse hair |
ORPHA:2036 |
| Autosomal Recessive Robinow Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Alopecia, Umbilical hernia, Tetralogy of Fallot, Sacra... |
ORPHA:1507 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Scoliosis, Unilateral breast hypoplasia |
OMIM:604919 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cryptorchidism, Agenesis of corpus ... |
OMIM:602535 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Low posterior hairline, Short neck, Beaking of vertebral bodies, Atrial sep... |
OMIM:213980 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Depressed nasal bridge, Atlantoaxial dislocation, Aortic root aneurysm, Congenital... |
ORPHA:536467 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Abnormality of the nose, Proboscis, Short columella, Central diabetes ins... |
OMIM:142945 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Abnormal hair whorl, Patent foramen ovale, Ventricular septal defect, Atrial septa... |
OMIM:614261 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesi... |
ORPHA:2255 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Elevated circulating thyroid-stimulatin... |
OMIM:613457 |
| Perlman Syndrome |
|
Wide nasal bridge, Abnormal pancreas morphology, Hyperinsulinemia, Anteverted nares, Inguinal her... |
ORPHA:2849 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Branchial anoma... |
OMIM:164210 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Highly arched eyebrow, Abnormal form of the vertebral bodies, Sacral dimp... |
ORPHA:1327 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Sparse pubic hair, Adrenocorticot... |
ORPHA:91355 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Bicu... |
ORPHA:353281 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Alopecia, Sparse pubic hair, Sparse eyebrow, Ab... |
ORPHA:2232 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Depressed nasal bridge, Anisospondyly, Anteverted nares, Ovoid vertebral bodies, S... |
ORPHA:163649 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Prominent eyelashes, Prominent nasal bridge, Patent foramen ovale, Dysplastic ... |
OMIM:619179 |
| Ring Chromosome 7 Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Narrow naris, Hypogonadism, Anteverted nares, Prominent... |
ORPHA:1449 |
| Trisomy 20P |
|
Cryptorchidism, Low posterior hairline, Short neck, Short nose, Inguinal hernia, Low anterior hai... |
ORPHA:261318 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatosplenomegaly, Large placenta, Cryptorchidism, Inverted nipples, Ventricular septal defect, ... |
ORPHA:96334 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Broad nasal tip, Double outlet right ven... |
ORPHA:1596 |
| Robinow Syndrome |
|
Flared nostrils, Depressed nasal bridge, High anterior hairline, Broad nasal tip, Fused thoracic ... |
ORPHA:97360 |
| Ververi-Brady Syndrome |
|
Broad nasal tip, Bulbous nose, Prominent nose, Transposition of the great arteries, Scoliosis, Wi... |
OMIM:617982 |
| Holt-Oram Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus,... |
OMIM:142900 |
| Trigonocephaly 1 |
|
Wide nasal bridge, Lumbar hemivertebrae, Omphalocele, Short nose, Synophrys |
OMIM:190440 |
| Developmental And Epileptic Encephalopathy 75 |
|
Wide nasal bridge, Optic atrophy, Cardiomyopathy, Anteverted nares, Optic disc pallor, Short nose |
OMIM:618437 |
| C Syndrome |
|
Wide nasal bridge, Anteverted nares, Cryptorchidism, Ventricular septal defect, Omphalocele, Scol... |
OMIM:211750 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Holoprosencephaly |
ORPHA:2163 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Depressed nasal bridge, Optic nerve hypoplasia, Sacral dimple, Bulbous nos... |
OMIM:618828 |
| Achondrogenesis |
|
Umbilical hernia, Anteverted nares, Inguinal hernia, Short neck, Short nose |
ORPHA:932 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Sparse hair, Pulmonic stenosis, Reduced circulating... |
OMIM:615508 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Wide intermamillary distance, Hypogonadism, Low posterior hairline, Abnormal hair pattern, Short ... |
ORPHA:2983 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Abnormal vertebral morphology, Prominent scalp veins, Cryptorchidism, Beak... |
ORPHA:536471 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Aortic dissection, Umbilical hernia, Inguinal he... |
ORPHA:1900 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Platyspondyly, Hypertrophic cardiomyopathy, Anteverted nares, Ventricular sept... |
OMIM:616897 |
| Pentalogy Of Cantrell |
|
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... |
ORPHA:1335 |
| Down Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Atlantoaxial dislocation, Secundum atrial septal d... |
ORPHA:870 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Semilobar holopr... |
ORPHA:556955 |
| Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Encephalocele, Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose |
OMIM:200130 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art... |
ORPHA:3342 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hypothyroidism, Double outl... |
ORPHA:1667 |
| Iniencephaly |
|
Spinal dysraphism, Absent vertebra, Myelomeningocele, Encephalocele, Spina bifida, Omphalocele, H... |
ORPHA:63259 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Scoliosis, Short nose |
OMIM:615042 |
| Dermotrichic Syndrome |
|
Abnormal vertebral morphology, Depressed nasal bridge, Nail dystrophy, Aganglionic megacolon, Sho... |
ORPHA:99688 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Occipital encephalocele, Hypothalamic hamartoma, Hydrocephalus, Anterior ... |
OMIM:241800 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Choanal atresia, Umbilical hernia, Prominent nose, Frontal upsweep of hair... |
ORPHA:93932 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Scoliosis, Fine hair, Anteverted nares, Wide nose, Low anterior hairline, Kyphoscoliosis, Short n... |
ORPHA:391408 |
| Giant Axonal Neuropathy |
|
Pili canaliculi, Facial palsy, Woolly hair, Scoliosis, Diffuse axonal swelling, Abnormal pituitar... |
ORPHA:643 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Elevated circulating luteinizing hormone level, Cervical spine hypermobility, ... |
OMIM:305400 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Ventricular septal defect, Ovoid verteb... |
OMIM:244450 |
| 9q subtelomeric deletion syndrome |
|
Abnormal heart morphology, Anteverted nares, Short nose, Synophrys |
DECIPHER:52 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Sparse lateral eyebrow, Short nose |
OMIM:601224 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... |
ORPHA:52901 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Horizontal eyebrow, Retinal coloboma, Abnormal heart morphology, Bulbous nose,... |
OMIM:618571 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Semilobar holoprosencephaly |
OMIM:601370 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Long nose, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous ... |
ORPHA:2184 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Thick eyebrow, Cryptorchidism, Short nose, Synophrys |
OMIM:617991 |
| Distal Deletion 10Q |
|
Wide nasal bridge, Lateral ventricle dilatation, Prominent nose, Prominent nasal bridge, Facial d... |
ORPHA:96148 |
| 16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Abnormal heart m... |
ORPHA:485405 |
| Methimazole Embryofetopathy |
|
Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal... |
ORPHA:1923 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Fine hair, Long eyelashes, Thoracic kyphosis, Agenesis of corpus callosum, Sho... |
OMIM:620250 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Proboscis, Aplasia of the nose, Agenesis of corpus callosum, Adrenal hy... |
OMIM:236100 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Optic atrophy, Depressed nasal bridge, Long eyelashes, Thick eyebrow, Colpocephaly, Hydrocephalus... |
OMIM:619833 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Fair hair, Spinal canal stenosis, Congenital hypothyroidism, Anteverted n... |
OMIM:614613 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, T... |
ORPHA:210122 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... |
ORPHA:353277 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Ventri... |
ORPHA:3078 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Inguinal hernia, Mitral valve prolapse, Short nose |
OMIM:615539 |
| Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Inguinal hernia, Cryptorchidism, Generalized hirsutism, ... |
ORPHA:3121 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Anteverted nares, Atrial septal defect, Short nose |
OMIM:619356 |
| Trisomy 8P |
|
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract i... |
ORPHA:264450 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Wide intermamillary distance, Underdeveloped nasal alae... |
ORPHA:163979 |
| Fibrochondrogenesis 1 |
|
Platyspondyly, Depressed nasal bridge, Anteverted nares, Patent foramen ovale, Short neck, Omphal... |
OMIM:228520 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... |
ORPHA:3097 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilater... |
OMIM:619859 |
| Femoral-Facial Syndrome |
|
Cryptorchidism, Inguinal hernia, Vertebral segmentation defect, Maternal diabetes, Abnormal sacru... |
ORPHA:1988 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Male hypogonadism, Wide intermamillary distance, Sparse body hair, Absenc... |
ORPHA:432 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Restrictive cardiomyopathy, Anteverted nares, Inverted nipples, Scoliosis... |
OMIM:615398 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke... |
OMIM:175050 |
| Edinburgh Malformation Syndrome |
|
Choanal atresia, Anteverted nares, Hirsutism, Low posterior hairline, Generalized hirsutism, Hydr... |
ORPHA:1895 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, Hirsutism, Kyphoscoliosis, Hypothyroidism, Atrial septal defect, Patent ductus... |
OMIM:618005 |
| Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle hair, Sparse ha... |
ORPHA:1340 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Omphalocele, Short nose |
ORPHA:1906 |
| Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Neonat... |
OMIM:610015 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Wide nasal bridge, Sacrococcygeal pilonidal abnormality, Prominent nasal bridge, Cryptorchidism, ... |
ORPHA:468631 |
| Au-Kline Syndrome |
|
Bifid nasal tip, Wide intermamillary distance, Aortic root aneurysm, Sparse lateral eyebrow, Unde... |
OMIM:616580 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Abnormal form of the vertebral bodies, Hyperlordosis, Short nose, Wide nose |
ORPHA:2831 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cryptorchi... |
OMIM:615465 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Distichiasis, Varicose veins, Peripheral arterial stenosis, Patent duc... |
OMIM:126320 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... |
ORPHA:261183 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Breast hypoplasia, Long eyelashes, Cryptorchidism, Absent axillary hair, ... |
OMIM:601353 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Sacral dimple, Ventricular septal defect, Pulmonary artery stenosis, Hypo... |
OMIM:301030 |
| Fontaine Progeroid Syndrome |
|
Cryptorchidism, Neonatal death, Low posterior hairline, Bicuspid aortic valve, Atrial septal defe... |
OMIM:612289 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Low hanging columella, Short nose |
OMIM:617752 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hypertrichosis, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosple... |
ORPHA:505248 |
| Townes-Brocks Syndrome 1 |
|
Choanal atresia, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Cryptorchidism, V... |
OMIM:107480 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Optic atrophy, Short nose |
ORPHA:1495 |
| Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation, Supernumerary nipple, Cryptorchidism, Sparse hair, Short nose, Prec... |
OMIM:615485 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Abnormal cranial nerve morphology, Venous insufficiency, Intracranial... |
ORPHA:624 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Depressed nasal bridge, Abnormality of the vertebral column, Hypogonadism, Short nasal s... |
OMIM:302950 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ... |
OMIM:613038 |
| Meckel Syndrome |
|
Accessory spleen, Optic atrophy, Depressed nasal ridge, Situs inversus totalis, Encephalocele, Cr... |
ORPHA:564 |
| Achondrogenesis Type 1B |
|
Short neck, Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93298 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose |
OMIM:300558 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Aganglionic megacolon, ... |
OMIM:614749 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Accessory spleen, Wide nasal bridge, Annular pancreas, Polysplenia, Depr... |
OMIM:164280 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Type I diabetes mellitus, Semilobar holoprosencephaly, Absent gallbladder... |
OMIM:618500 |
| Frontofacionasal Dysplasia |
|
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Absent inner eye... |
ORPHA:1791 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Hypertrophic cardiomyopathy, Short nose, Bulbous nose, Anteverted nares, ... |
OMIM:115150 |
| Prader-Willi Syndrome Due To Translocation |
|
Broad nasal tip, Lateral ventricle dilatation, Decreased response to growth hormone stimulation t... |
ORPHA:177907 |
| Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Aortic valve stenosis, Alopecia, Abnormal aortic morphology, Agenesis of... |
ORPHA:2396 |
| Alg9-Cdg |
|
Depressed nasal bridge, Wide anterior fontanel, Underdeveloped nasal alae, Hypertrichosis, Abnorm... |
ORPHA:79328 |
| Achondrogenesis Type 1A |
|
Short neck, Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93299 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Decreased testicular size, Lumbar hyperlordosis, Prominent nasal bridge, Cryptorchidis... |
ORPHA:251028 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Wide nasal bridge, Sparse eyebrow, Wide intermamillary distance, Underdeveloped nasal alae, Antev... |
OMIM:613026 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Platyspondyly, Depressed nasal bridge, Thoracic platyspondyly, Patent foramen ovale, Kyphoscolios... |
ORPHA:457395 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation, Short nose |
OMIM:613443 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Gynecomastia, Inverted nipples, Scoliosis, Short nose |
OMIM:618430 |
| Cornelia De Lange Syndrome 6 |
|
Highly arched eyebrow, Sparse eyebrow, Atrioventricular canal defect, Anteverted nares, Frontal u... |
OMIM:620568 |
| Micro Syndrome |
|
Wide nasal bridge, Optic atrophy, Retinal coloboma, Anteverted nares, Cryptorchidism, Generalized... |
ORPHA:2510 |
| Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma, Anteverted nares, Choanal stenosis, Atrial septal defect, Patent ductus arte... |
ORPHA:1790 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Short nose |
ORPHA:2547 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Anteverted nares, Thyroid carcinoma, Wide nose, Hashimoto thyroiditis... |
ORPHA:109 |
| Fetal Alcohol Syndrome |
|
Anteverted nares, Vertebral segmentation defect, Generalized hirsutism, Atrial septal defect, Sho... |
ORPHA:1915 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... |
OMIM:619656 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Depressed nasal bridge, Sacral dimple, Abnormal eyelash morphology, Interrupted ... |
OMIM:206920 |
| Arthrogryposis, Distal, Type 2A |
|
Wide nasal bridge, Abnormal auditory evoked potentials, Underdeveloped nasal alae, Cryptorchidism... |
OMIM:193700 |
| Nicolaides-Baraitser Syndrome |
|
Wide nasal base, Dry hair, Umbilical hernia, Sparse medial eyebrow, Hypertrichosis, Long eyelashe... |
OMIM:601358 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Agenesis of corpus callosum, Scoliosis, Kyphosis, Short nose |
ORPHA:261144 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Hypoplasia of the odontoid process, Underdeveloped nasal alae, Cervical s... |
OMIM:616007 |
| Kallmann Syndrome |
|
Anosmia, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased tes... |
ORPHA:478 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Short nose |
OMIM:616459 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Wide intermamillary distance, Absent gallbladder, Crypt... |
OMIM:300712 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Broad nasal tip, Hypoplastic sacrum, Breast hypoplasia, Prominent nose, Low hanging columella, Sp... |
OMIM:614813 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Stillbirth, Umbilical hernia, Narrow vertebral interpedicular distance, Short neck... |
OMIM:269250 |
| Desmosterolosis |
|
Depressed nasal bridge, Abnormality of the nose, Splenomegaly, Agenesis of corpus callosum, Hydro... |
ORPHA:35107 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sacral dimple, Tetralogy of Fallot, Bulbous nose, Ante... |
OMIM:613458 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose |
ORPHA:1529 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Neoplasm of the thyroid gland, Venous insufficiency, Lymphangioma, Ne... |
ORPHA:137608 |
| Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Venous insufficiency, A... |
ORPHA:90308 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Highly arched eyebrow, Wide intermamillary distance, Underdeveloped nasal alae, Prominent nasal b... |
ORPHA:2083 |
| Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... |
OMIM:610168 |
| Doors Syndrome |
|
Wide nasal base, Optic atrophy, Wide nasal bridge, Broad nasal tip, Bulbous nose, Congenital hypo... |
ORPHA:79500 |
| Adult Syndrome |
|
Wide nasal bridge, Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Prominent nasal bridge,... |
ORPHA:978 |
| Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Thick eyebrow, Short nose, Wide anterior fontanel |
OMIM:619736 |
| Peters Plus Syndrome |
|
Cryptorchidism, Short neck, Iris coloboma, Patent ductus arteriosus, Short nose, Hypoplastic left... |
ORPHA:709 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Agenesis of corpus callosum, Pulmonic s... |
OMIM:257300 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... |
OMIM:613834 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Choanal atresia, Sparse pubic hair, Sparse eyebrow, Broad nasal tip, Fair hair, Semilobar holopro... |
OMIM:129900 |
| Tick-Borne Encephalitis |
|
Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnormal myocardiu... |
ORPHA:297 |
| Simpson-Golabi-Behmel Syndrome |
|
Wide nasal bridge, Cardiomyopathy, Umbilical hernia, Supernumerary nipple, Polysplenia, Anteverte... |
ORPHA:373 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bod... |
ORPHA:819 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy, Sparse eyebrow, Depressed nasal bridge, Fine hair, Sparse eyelashes, Brittle hair,... |
OMIM:617988 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Short nose |
OMIM:616910 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Unossified sacrum, Inguinal hernia, Absent in uter... |
OMIM:608022 |
| Oculodentodigital Dysplasia |
|
Optic atrophy, Abnormality of the nose, Fine hair, Umbilical hernia, Underdeveloped nasal alae, B... |
ORPHA:2710 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidism, Mitral v... |
OMIM:609942 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Hydrocephalus, Chorioretinal coloboma, Short nose |
ORPHA:163961 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Scoliosis, Inguinal hernia, Short nose |
ORPHA:544503 |
| Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Butterfly vertebrae, Prominent nasal... |
OMIM:607330 |
| Cebalid Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Anteverted nares, Thick eye... |
OMIM:618774 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Hypoplastic nasal bridge, Anteverted nares, Hydrocephalu... |
OMIM:602398 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Anteverted nares, Inguinal hernia, Brittle hair, Abnormality of hair texture, Scolio... |
OMIM:219200 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nares, Conotruncal defect, Hy... |
ORPHA:40366 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Depressed nasal bridge, Short neck, Hyperlordosis, Concave nasal ridge, Scoliosis,... |
OMIM:251450 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Highly arched eyebrow, Aortic root aneurysm, Decreased response to... |
ORPHA:444077 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Fine hair, Supernumerary nipple, Cryptorchidism, Inguinal hernia, Agenesi... |
ORPHA:1812 |
| Acrodysostosis |
|
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Abnormal form of the vertebral ... |
ORPHA:950 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Coarse hair, Anteverted nares, Spina bifida occulta, Short nose |
ORPHA:1185 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Cervical kyphosis, Abnormal heart morphology, Abnormal heart valve morp... |
ORPHA:2953 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Short nose |
OMIM:615716 |
| Distal Duplication 5Q |
|
Chorioretinal coloboma, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Aplasi... |
ORPHA:96097 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Anteverted nares, Short nose, Wi... |
OMIM:601853 |
| Monosomy 13Q14 |
|
Wide nasal bridge, Prominent nasal bridge, Short neck, Holoprosencephaly, Iris coloboma |
ORPHA:1587 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Cryptorchidism, Curly hair, Wide anterior fontanel, Sho... |
OMIM:616638 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine system |
OMIM:129550 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Sparse hair... |
OMIM:614105 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Broad nasal tip, Aganglionic megacolon, Atrial septal defect, Scoliosis, Short... |
OMIM:614207 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Bcard Syndrome |
|
Platyspondyly, Coarse hair, Dilatation of the cerebral artery, Anteverted nares, Scoliosis, Short... |
OMIM:612394 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Wide nasal bridge, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Bulbou... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Umbilical hernia, Tetralogy of Fallot, Thick eyebrow, W... |
ORPHA:1519 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Bulbous nose, Anteverted nares, Short nose |
OMIM:613604 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Thick eyebrow, Short nose, Optic nerve hypoplasia |
ORPHA:228384 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Short nose, Intervertebral space narrowing |
OMIM:614078 |
| Kawasaki Disease |
|
Vasculitis, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventricula... |
ORPHA:2331 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Depressed nasal bridge, Hypoplasia of the odontoid process, Cervical spin... |
ORPHA:508533 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Depressed nasal ridge, Hydrocephalus, Short nose |
OMIM:300863 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Coarse hair, Dilation of Virchow-Robin spaces, Splenomegaly, Hydrocele te... |
OMIM:605309 |
| Zttk Syndrome |
|
Wide nasal bridge, Optic atrophy, Sparse eyebrow, Depressed nasal bridge, Kyphosis, Absent gallbl... |
OMIM:617140 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:610655 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Elevated circulating parathyroid hormone level, Prominent nose, Cryptorch... |
ORPHA:439822 |
| Trisomy 12P |
|
Wide nasal bridge, Supernumerary nipple, Thick eyebrow, Short neck, Short nose |
ORPHA:1699 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| Tetrasomy 18P |
|
Scoliosis, Short nose |
ORPHA:3307 |
| Omodysplasia 1 |
|
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Cryptorchidism, Ventricular septal d... |
OMIM:258315 |
| Zimmermann-Laband Syndrome 1 |
|
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Aortic root aneurysm, Cardiomyopathy, ... |
OMIM:135500 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Highly arched eyebrow, Depressed nasal bridge, Underdeveloped nasal alae, Hypertrichosis, Decreas... |
OMIM:615866 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Ad... |
OMIM:614732 |
| Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Trichiasis, Sacral dimple, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Atr... |
OMIM:312870 |
| Tetrasomy 12P |
|
Sparse eyebrow, Anteverted nares, Short neck, Sparse hair, Short nose |
ORPHA:884 |
| 3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Subvalvular aortic stenosis, Six lumbar vertebrae, Patent ductus arterios... |
ORPHA:65286 |
| Pterygium Colli, Isolated |
|
Low posterior hairline, Short nose |
OMIM:177990 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Broad nasal tip, Long eyelashes, Anteverted nares, Bicuspid aortic valve, Omph... |
OMIM:618529 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Abnormal heart morphology, Aganglionic... |
OMIM:239300 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
| Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Myelomeningocele, Abnormal heart valve morphology, Encephalocele, Hydroce... |
ORPHA:90652 |
| Holoprosencephaly 4 |
|
Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage, Semilobar holoprosenc... |
OMIM:142946 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Long eyelashes... |
OMIM:615803 |
| Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Decreased response to growth hormone stimulation test, Breast hypoplasia, Bulbous... |
ORPHA:506358 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Sacral dimple, Short columella, Aganglionic megacolon, Intraventricular hemorr... |
OMIM:613603 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Facial palsy, Short nose |
OMIM:614744 |
| Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the nipples, Fine hair, Umbilical hernia, Underdeve... |
ORPHA:920 |
| Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Thick eyebrow, Wide nose, Vertebral segmentation defect, Low posterior hairline, Abn... |
ORPHA:1394 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Wide intermamillary distance, Hypertrichosis, Decreased testicular size, Low anter... |
OMIM:614222 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Choanal atresia, Anteverted nares, Generalized hirsutism, Scoliosis, Short nose |
ORPHA:561 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Ganglioneuroma, Adrenocorticotropi... |
ORPHA:251937 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Underdeveloped nasal alae, Abnormal hair pattern, Abnormal cardiac septum morphology, D... |
ORPHA:2315 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Optic atrophy, Hypertrichosis, Hydrocephalus, Long nose, Scoliosis, Short... |
OMIM:618590 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Cryptorchidism, Ad... |
ORPHA:95699 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Wide nasal bridge, Bulbous nose, Short nose |
OMIM:620292 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Chorioretinal coloboma, Peripheral demyelination, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:619475 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Perlman Syndrome |
|
Interrupted aortic arch, Wide nasal bridge, Depressed nasal bridge, Cryptorchidism, Pancreatic is... |
OMIM:267000 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Lumbar scoliosis, Prominent nose, Bilateral breast hypoplasia |
ORPHA:319675 |
| Non-Distal Duplication 13Q |
|
Wide intermamillary distance, Thick eyebrow, Cryptorchidism, Abnormal eyelash morphology, Short n... |
ORPHA:1702 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Anteverted nares, Splenomegaly, Venous ... |
ORPHA:2969 |
| Gaucher Disease, Type Ii |
|
Double aortic arch, Splenomegaly |
OMIM:230900 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Anteverted nares, Short nose |
OMIM:614524 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Depressed nasal ridge, Hydrocephalus, Short nose |
ORPHA:163966 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Adult Syndrome |
|
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa... |
OMIM:103285 |
| Tetrasomy 5P |
|
Wide nasal bridge, Anteverted nares, Short neck, Hydrocephalus, Short nose, Wide anterior fontanel |
ORPHA:3309 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Broad nasal tip, Retinal coloboma, Prominent nasal bridge, Optic disc pallor, ... |
OMIM:300749 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Depressed nasal ridge, Bulbous nose, Long eyelashes, Thick eyebrow, Promin... |
OMIM:156200 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Breast h... |
OMIM:181450 |
| Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Anteverted nares, Low hanging columella, Ovoid vertebral bodies, Short neck, Abn... |
OMIM:601559 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Coarse hair, Broad nasal tip, Prominent veins on trunk, Anteverted nares, Inguinal hernia, Thick ... |
ORPHA:357074 |
| Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Narrow nose, Prominent nasal brid... |
OMIM:601812 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Choanal atresia, Anteverted nares, Ventricular septal defect, Atrial septal defect, Short nose |
OMIM:610536 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Aque... |
OMIM:616462 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Thyroid carcinoma, Hurthle cell thyroid adenoma, Short nose |
ORPHA:210548 |
| Acrocallosal Syndrome |
|
Wide nasal bridge, Optic atrophy, Umbilical hernia, Abnormal pulmonary valve morphology, Cryptorc... |
OMIM:200990 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Narrow nasal ridge, Prominent su... |
OMIM:608612 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... |
ORPHA:168563 |
| Atelosteogenesis, Type I |
|
Depressed nasal bridge, Stillbirth, Thoracic platyspondyly, Encephalocele, Cryptorchidism, Neonat... |
OMIM:108720 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Highly arched eyebrow, Broad nasal tip, Hypertrichosis, Sacral dimple, Long eyelashes, Thick eyeb... |
ORPHA:363611 |
| Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nare... |
OMIM:164200 |
| Syndromic Diarrhea |
|
Wide nasal bridge, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Abnormal heart morp... |
ORPHA:84064 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Optic atrophy, Scoliosis, Short nose, Wide nose |
OMIM:615851 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Optic atrophy, Scoliosis, Short nose, Low anterior hairline |
ORPHA:329178 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Depressed nasal bridge, Bulbous nose, Congenital hypothyroidism, Anteverted nares,... |
OMIM:271510 |
| Degcags Syndrome |
|
Premature graying of hair, Hepatosplenomegaly, Cryptorchidism, Ventricular septal defect, Agenesi... |
OMIM:619488 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose, Synophrys |
OMIM:300143 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose |
OMIM:137550 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
| Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy, Short nose |
OMIM:260565 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Pericardial effusion, Short nose |
OMIM:617822 |
| 20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sacral dimple, Anteverted nares, Inguinal hernia, Cryp... |
ORPHA:363659 |
| Ohdo Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Cryptorchidism, Shor... |
OMIM:249620 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Umbilical hernia, Cardiac fibroma, Ovarian fibroma, Short ne... |
ORPHA:77301 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Chromosome 3Q29 Duplication Syndrome |
|
Low posterior hairline, Bulbous nose, Short nose, Wide nasal bridge |
OMIM:611936 |
| Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Scoliosis, Kyphosis, Short nose, Synophrys |
ORPHA:476126 |
| Duplication Of The Pituitary Gland |
|
Abnormal odontoid process morphology, Encephalocele, Agenesis of corpus callosum, Abnormal hypoth... |
ORPHA:314621 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... |
OMIM:618748 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Fair hair, Anteverted nares, Right ve... |
ORPHA:280633 |
| Meier-Gorlin Syndrome 2 |
|
Breast hypoplasia, Underdeveloped nasal alae |
OMIM:613800 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Cryptorchidism, Inguinal hernia, Abnormal hair pattern, Spina bifida occulta, Short ... |
ORPHA:1786 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Prominent eyelashes, Short nose |
OMIM:616420 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplastic sacrum, Umbilical hernia, Abnormal heart m... |
OMIM:268310 |
| Neu-Laxova Syndrome 1 |
|
Depressed nasal ridge, Hydranencephaly, Small placenta, Cryptorchidism, Short umbilical cord, Age... |
OMIM:256520 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Chorioretinal coloboma, Anteverted nares, Meningocele, Short nose |
ORPHA:2031 |
| Miller-Dieker Lissencephaly Syndrome |
|
Wide nasal bridge, Abnormal heart morphology, Sacral dimple, Anteverted nares, Inguinal hernia, C... |
OMIM:247200 |
| Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Hypothyroidism, Convex nasal ridge, Scoliosis, Short nose |
ORPHA:3258 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short nose |
ORPHA:79113 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Umbilical hernia, Sacral dimple, Anteverted nares, Cryptorchidism, Kyphos... |
OMIM:616331 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Hepatosplenomegaly, Anteverted nares, Splenomegaly, Neonatal death, Cardi... |
OMIM:608013 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology |
ORPHA:60015 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Reduced... |
OMIM:616430 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Venous insufficiency |
ORPHA:33276 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Facial hirsutism, Splenomegaly, Low posterior hairline, Concave nasal rid... |
OMIM:170100 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Sparse lateral eyebrow, Abnormal heart morphology, Anteverted nares, Shor... |
ORPHA:314655 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Wide nasal bridge, Facial hypertrichosis, Depressed nasal bridge, Underdev... |
ORPHA:2729 |
| Meier-Gorlin Syndrome 3 |
|
Sparse pubic hair, Breast hypoplasia, Prominent nasal bridge, Cryptorchidism, Sparse axillary hair |
OMIM:613803 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... |
ORPHA:904 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Short nose |
ORPHA:2145 |
| Opsismodysplasia |
|
Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies, Short nose, Abnormally ossifi... |
ORPHA:2746 |
| Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Depressed nasal bridge, Anteverted nares, Coarctation of aorta, Short nose |
ORPHA:50945 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Short nose |
OMIM:619854 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Depressed nasal bridge, Short neck, Thoracolumbar scoliosis, Scoliosis, Short nose |
OMIM:616723 |
| Deeah Syndrome |
|
Wide intermamillary distance, Decreased response to growth hormone stimulation test, Panhypopitui... |
OMIM:619004 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... |
ORPHA:88628 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelopathy, Venous malformation, Low back pain, Arteriovenous fistula, Back ... |
ORPHA:79093 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Anteverted nares, Aganglionic megacolon, Hydrocephalus, Sep... |
ORPHA:59315 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... |
ORPHA:568051 |
| Nablus Mask-Like Facial Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Depressed... |
OMIM:608156 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Atrial septal defect, Hydrocele testis, Patent ductus a... |
OMIM:614080 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Coarse hair, Wide intermamillary distance, Cryptorchidism, Low posterior h... |
ORPHA:1912 |
| Helsmoortel-Van Der Aa Syndrome |
|
Wide nasal bridge, High anterior hairline, Broad nasal tip, Lateral ventricle dilatation, Decreas... |
OMIM:615873 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:745 |
| Otopalatodigital Syndrome, Type I |
|
Wide nasal bridge, Nail dystrophy, Omphalocele, Scoliosis, Short nose |
OMIM:311300 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Agenesis of corpus callosum, Generalized hirsutism, Pa... |
ORPHA:1606 |
| Geleophysic Dysplasia 2 |
|
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Ovoid vertebral bodies, Tricuspid ... |
OMIM:614185 |
| Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism |
OMIM:613804 |
| Meningioma |
|
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... |
ORPHA:2495 |
| Acromesomelic Dysplasia 1 |
|
Thoracolumbar kyphosis, Short nail, Lumbar hyperlordosis, Thoracolumbar interpediculate narrownes... |
OMIM:602875 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Abnormal cardiac septum morphology, Scoliosis, Short... |
ORPHA:1225 |
| Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Long eyelashes, Cryptorchidism, Hemivertebrae |
OMIM:224690 |
| Alagille Syndrome 1 |
|
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Bulbous nose, ... |
OMIM:118450 |
| Restrictive Dermopathy |
|
Choanal atresia, Sparse eyebrow, Short nail, Aplasia/Hypoplasia involving the nose, Small placent... |
ORPHA:1662 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Inguinal hernia, Short nose, Agenesis of corpus callosum |
OMIM:613735 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Wide nasal bridge, Optic atrophy, Sparse eyebrow, Depressed nasal bridge, Lateral ventricle dilat... |
ORPHA:500150 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Depressed nasal bridge, Underdeveloped nasal alae, Long eyelashes, Antever... |
OMIM:619005 |
| Achondrogenesis, Type Ia |
|
Depressed nasal bridge, Hypoplastic nasal bridge, Unossified vertebral bodies, Hypoplastic sacrum... |
OMIM:200600 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism, Abnormal glossopharyngeal nerve morphology, Facial diplegia |
ORPHA:268940 |
| Malan Syndrome |
|
Scoliosis, Short nose |
OMIM:614753 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Cryptorchidism, Short neck, Patent du... |
ORPHA:2282 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Horizontal eyebrow, Lumbar hyperlordosis, Prominent nasal tip, Abnormal location of the eyebrow, ... |
ORPHA:522077 |
| Opsismodysplasia |
|
Depressed nasal bridge, Hypoplasia of the odontoid process, Anteverted nares, Hypoplastic vertebr... |
OMIM:258480 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Short nose, Hirsutism |
OMIM:618087 |
| Schinzel-Giedion Syndrome |
|
Broad nasal tip, Central hypothyroidism, Annular pancreas, Umbilical hernia, Abnormal heart morph... |
ORPHA:798 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Microlissencephaly-Micromelia Syndrome |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Short neck, Generalized ... |
ORPHA:50810 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... |
ORPHA:17 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Hypoplasia of the odontoid process, Broad nasal tip, Anteverted nares, Inguinal ... |
OMIM:272460 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:743 |
| Diamond-Blackfan Anemia 8 |
|
Wide nasal bridge, Short nose |
OMIM:612563 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation, Scoliosis, Splenomegaly, Spinal dysraphism |
OMIM:612918 |
| Angioosteohypotrophic Syndrome |
|
Venous malformation, Prominent superficial veins |
ORPHA:75508 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Choanal atresia, Occipital encephalocele, Tetralogy of Fallot, Ven... |
OMIM:192350 |
| Monosomy 9P |
|
Highly arched eyebrow, Choanal atresia, Wide intermamillary distance, Depressed nasal bridge, Abn... |
ORPHA:261112 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal venous morphology, Abnormality of the lymphatic s... |
ORPHA:276280 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat... |
OMIM:600460 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Cryptorchidism, Short nose |
ORPHA:93328 |
| Tetrasomy 9P |
|
Umbilical hernia, Juxtaductal coarctation of the aorta, Bulbous nose, Absent gallbladder, Cryptor... |
ORPHA:3310 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:187300 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Sparse eyebrow, Sparse lateral eyebrow, Underdeveloped nasal alae, Nail d... |
OMIM:604173 |
| Milroy Disease |
|
Hydrocele testis, Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Depressed nasal bridge, Sacrococcygeal teratoma, Hypertrichosis, Anteverted nares, Hypoplastic ni... |
OMIM:269150 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Broad columella, Thick eyebrow, Short nose |
OMIM:617865 |
| Craniopharyngioma |
|
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cent... |
ORPHA:54595 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:194050 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus |
OMIM:243440 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... |
OMIM:613795 |
| Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Hydrocephalus, Omphalocele, Ectopia cordis, Anencephaly, Pat... |
OMIM:313850 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cranium bifidum occultum, Sparse eyebrow, Hypoplasia of the frontal bone, Unde... |
ORPHA:306542 |
| Hereditary Hemorrhagic Telangiectasia |
|
Epistaxis, Cholelithiasis, Arteriovenous malformation, Abnormal cerebral vascular morphology, Tra... |
ORPHA:774 |
| Autosomal Dominant Robinow Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Alopecia, Abnormal form of the vertebral bodies, Umbil... |
ORPHA:3107 |
| Chime Syndrome |
|
Depressed nasal ridge, Aplasia/Hypoplasia of the nipples, Fine hair, Retinal coloboma, Tetralogy ... |
ORPHA:3474 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose |
ORPHA:93329 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Long eyelashes, Short nose |
OMIM:617802 |
| Distal Deletion 9P |
|
Wide nasal bridge, Short neck, Wide intermamillary distance, Short nose |
ORPHA:1642 |
| Raine Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Choanal atresia, Neonatal death, Short neck, Choan... |
OMIM:259775 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Alopecia, Supernumerary nipple, Tetralogy of Fallo... |
OMIM:100300 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... |
ORPHA:402075 |
| Trisomy 10P |
|
Depressed nasal bridge, Abnormal auditory evoked potentials, Abnormality of the nose, Abnormal he... |
ORPHA:171929 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hydrocephalus, Short nose |
OMIM:101600 |
| Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Proboscis, Anteverted nares, Prominent nasal bridge, Encephalocele, Sparse eyelas... |
OMIM:605627 |
| Witteveen-Kolk Syndrome |
|
Flared nostrils, Type II diabetes mellitus, Iris coloboma, Short nose, Wide nose, Decreased respo... |
OMIM:613406 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Short nose, Synophrys |
ORPHA:1295 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Ventricul... |
ORPHA:141127 |
| Peho Syndrome |
|
Optic atrophy, Anteverted nares, Hydrocephalus, Short nose |
ORPHA:2836 |
| Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of th... |
ORPHA:1234 |
| Geleophysic Dysplasia 1 |
|
Aortic valve stenosis, Wide nasal bridge, Platyspondyly, Anteverted nares, Mitral stenosis, Ovoid... |
OMIM:231050 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
| Sponastrime Dysplasia |
|
Precocious puberty, Depressed nasal bridge, Platyspondyly, Abnormality of the vertebral column, D... |
ORPHA:93357 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Congenital hypothyroidism, Hirsutism, Kyphosis, Short nose |
OMIM:617527 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Facial palsy, Scoliosis, Short nose |
ORPHA:1358 |
| Congenital Myopathy 22B, Severe Fetal |
|
Wide nasal bridge, Thoracic scoliosis, Short neck, Synophrys, Scoliosis, Short nose, Spinal rigidity |
OMIM:620369 |
| Carpenter Syndrome 2 |
|
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Depressed... |
OMIM:614976 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Optic atrophy, Long eyelashes, Anteverted nares, Short nose, Optic nerve ... |
ORPHA:357001 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Short nose |
OMIM:256600 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Short nose, Cerebral hemorrhage |
OMIM:277450 |
| Meier-Gorlin Syndrome 6 |
|
Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Decre... |
OMIM:616835 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
| Bartsocas-Papas Syndrome 1 |
|
Alopecia, Wide intermamillary distance, Underdeveloped nasal alae, Bilateral cryptorchidism, Alop... |
OMIM:263650 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Umbilical hernia, Short columella, Cryptorchidism, Mitral valve prolapse, Hiatus hernia, Tricuspi... |
OMIM:601776 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Central hypothyroidism, Underdeveloped nasal alae, Anteverted nares, Prom... |
OMIM:300912 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Bulbous nose, Anteverted nares, Absent nasal bridge, Long nose, Short nose |
ORPHA:261211 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis,... |
OMIM:601675 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Wide nasal bridge, Total anomalous pulmonary venous return, Inguinal hernia, Cryptorchidism, Shor... |
OMIM:609945 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Sparse ey... |
OMIM:601803 |
| Juvenile Polyposis Syndrome |
|
Epistaxis, Depressed nasal bridge, Arteriovenous malformation, Transient ischemic attack, Pulmona... |
ORPHA:2929 |
| Warburg Micro Syndrome 2 |
|
Optic atrophy, Prominent nasal bridge, Cryptorchidism, Low anterior hairline, Short nose |
OMIM:614225 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Underdevelope... |
OMIM:305100 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Hy... |
OMIM:268400 |
| Marshall Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Sparse eyelashes, Sp... |
ORPHA:560 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Kyphosis, Short nose, Hirsutism |
ORPHA:521426 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Transient ischemic attack, Ischemic stroke, Gastrointestinal angiodysplasia, Spinal arteriovenous... |
OMIM:600376 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:2835 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Anomalous origin of left subclavian artery, High anterior hairline, Increased... |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Wide nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Cryptorchidism, Ventricular s... |
OMIM:619522 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Elevated circulating parathyroid hormone level, Short nose |
OMIM:618618 |
| Lathosterolosis |
|
Bulbous nose, Anteverted nares, Abnormal thoracic spine morphology, Meningocele, Short nose |
ORPHA:46059 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Aqueductal stenosis, Short nose |
ORPHA:93259 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
| Livedoid Vasculopathy |
|
Graves disease, Ischemic stroke, Venous insufficiency, Abnormality of the peripheral nervous syst... |
ORPHA:542643 |
| Wiedemann-Steiner Syndrome |
|
Wide nasal bridge, Decreased response to growth hormone stimulation test, Sacral dimple, Long eye... |
ORPHA:319182 |
| Acrocephalopolydactylous Dysplasia |
|
Polysplenia, Short neck, Omphalocele, Pancreatic fibrosis, Short nose |
OMIM:200995 |
| Osteoglophonic Dysplasia |
|
Platyspondyly, Choanal atresia, Depressed nasal bridge, Nasal congestion, Anteverted nares, Ingui... |
OMIM:166250 |
| Menkes Disease |
|
Umbilical hernia, Arterial stenosis, Inguinal hernia, Venous insufficiency, Woolly hair, Vascular... |
ORPHA:565 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Bulbous nose, Thin eyebrow, Prominent nasal bridge, Short columella, D... |
ORPHA:364577 |
| Clapo Syndrome |
|
Venous malformation, Lymphangioma, Ganglioneuroma, Varicose veins |
ORPHA:168984 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy, Short nose |
ORPHA:363417 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Aqueductal stenosis, Short nose |
ORPHA:93258 |
| Aspartylglucosaminuria |
|
Wide nasal bridge, Abnormal vertebral morphology, Umbilical hernia, Inguinal hernia, Splenomegaly... |
ORPHA:93 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Optic disc coloboma, Narrow naris, Sa... |
OMIM:617157 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Horizontal eyebrow, Underdeveloped nasal alae, Long eyelashes, Thick eyeb... |
OMIM:619426 |
| Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Inguinal hernia, Cryptorchidism, Hypopigmentation of ha... |
ORPHA:2719 |
| Adenylosuccinase Deficiency |
|
Anteverted nares, Short nose |
OMIM:103050 |
| Menke-Hennekam Syndrome 1 |
|
Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde... |
OMIM:618332 |
| Marshall Syndrome |
|
Platyspondyly, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:154780 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defe... |
OMIM:229400 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Anteverted nares, Short nose |
ORPHA:83 |
| Stickler Syndrome |
|
Platyspondyly, Depressed nasal bridge, Depressed nasal ridge, Abnormal form of the vertebral bodi... |
ORPHA:828 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Long eyelashes, Curly eyelashes, ... |
ORPHA:199 |
| Molybdenum Cofactor Deficiency, Type B |
|
Axonal loss, Peripheral demyelination, Short nose, Neonatal death |
OMIM:252160 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Short nose |
ORPHA:93260 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Coarse hair, Thick nasal septum, Broad columella, Thick nasal alae, Anteve... |
OMIM:303600 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Inguinal hernia, Cryptorchidism, Vertebral fusion, Wido... |
OMIM:227330 |
| Igg4-Related Kidney Disease |
|
Arteritis, Lymphadenitis, Abnormal breast morphology, Sialadenitis, Abnormal aortic morphology, A... |
ORPHA:449395 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Platyspondyly, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process,... |
OMIM:271665 |
| Mietens Syndrome |
|
Wide nasal bridge, Short nose, Wide nose |
ORPHA:2557 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Wide nasal bridge, Broad nasal tip, Umbilical hernia, Ventricular septal defect, Prominent nasal ... |
OMIM:620330 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Optic atrophy, Abnormal form of the vertebral bodies, Abnormal eyebrow mo... |
ORPHA:1106 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Epistaxis, Aortic root aneurysm, Umbilical hernia, Decreased nerve conductio... |
ORPHA:285 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Peripheral axonal neuropathy, Convex nasal ridge, Sparse ... |
OMIM:300661 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose |
OMIM:266810 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Sacral dimple, Long eyelashes, Antev... |
OMIM:180700 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Phocomelia, Schinzel Type |
|
Aplasia/Hypoplasia of the sacrum, Cryptorchidism, Short neck, Meningocele, Short nose |
ORPHA:2879 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Short nose, Agenesis of corpus callosum |
ORPHA:3339 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Optic atrophy, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Cryptorchidism, Low posteri... |
OMIM:309590 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Nail dystrophy, Delayed puberty, Convex nasal ridge, Short nose |
ORPHA:90154 |
| Cadds |
|
Adrenal hypoplasia, Short nose |
ORPHA:369942 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal ins... |
ORPHA:293978 |
| Occipital Horn Syndrome |
|
Platyspondyly, Coarse hair, Inguinal hernia, Abnormality of the sense of smell, Venous insufficie... |
ORPHA:198 |
| Proteus Syndrome |
|
Depressed nasal bridge, Thymus hyperplasia, Arteriovenous malformation, Diabetes insipidus, Chori... |
ORPHA:744 |
| Ayme-Gripp Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sparse scalp hair, Nail dystrophy, Broad eyebrow, Shor... |
OMIM:601088 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Pulmonary arteriovenous malformation, Narrow nasal ridge, Orthostatic h... |
OMIM:606721 |
| Glomuvenous Malformation |
|
Venous malformation, Arteriovenous malformation, Abnormal nasal cavity morphology, Gastrointestin... |
ORPHA:83454 |
| Molybdenum Cofactor Deficiency, Type A |
|
Axonal loss, Peripheral demyelination, Short nose |
OMIM:252150 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Adrenal insufficiency, Optic atrophy, Short nose |
OMIM:614863 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Alopecia, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus, Conve... |
OMIM:619321 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Anteverted nares, Prominent nasal bridge, Hypopigmentation of hair, Widow'... |
ORPHA:1974 |
| Dend Syndrome |
|
Anteverted nares, Short nose |
ORPHA:79134 |
| C Syndrome |
|
Depressed nasal bridge, Sacral dimple, Anteverted nares, Cryptorchidism, Abnormal hair pattern, S... |
ORPHA:1308 |
| Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation, Scoliosis, Neuroma |
ORPHA:221061 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Short nose, Narrow naris |
OMIM:122880 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Venous malformation, Varicose veins |
OMIM:613089 |
| Penile Agenesis |
|
Depressed nasal bridge, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Maternal... |
ORPHA:49 |
| Orofaciodigital Syndrome Type 4 |
|
Choanal atresia, Depressed nasal ridge, Decreased testicular size, Primary adrenal insufficiency,... |
ORPHA:2753 |
| Norrie Disease |
|
Optic atrophy, Narrow nasal bridge, Cryptorchidism, Venous insufficiency, Delayed puberty, Remnan... |
ORPHA:649 |
| Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Sialadenitis, Orchitis, Abnormality of the anterior pitu... |
ORPHA:449563 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Short nose |
ORPHA:293948 |
