| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Recurrent o... |
OMIM:618254 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular sep... |
OMIM:228940 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal... |
ORPHA:251076 |
| Mental Retardation Syndrome, Belgian Type |
|
Deeply set eye, Hypergonadotropic hypogonadism, Cleft ala nasi, Wide nose, Diabetes mellitus, Man... |
OMIM:249599 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia |
OMIM:218010 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Micrognathia, Hypospadias, Ventricular septal defect, Renal cyst, ... |
OMIM:231060 |
| 14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Pate... |
ORPHA:261120 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Hypertelorism, Promine... |
ORPHA:1200 |
| Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
| Alazami Syndrome |
|
Deeply set eye, Malar flattening, Depressed nasal bridge, Wide nose, Wide nasal bridge |
OMIM:615071 |
| Progressive Hemifacial Atrophy |
|
Micrognathia, Deeply set eye, Abnormal mandible morphology |
ORPHA:1214 |
| Forsythe-Wakeling Syndrome |
|
Deeply set eye, Prominent nasal bridge, Nephrotic syndrome, Thrombocytopenia |
OMIM:613606 |
| Cholesterol Pneumonia |
|
Cyanosis, Pneumonia, Cough, Tachypnea |
OMIM:215030 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism |
OMIM:614069 |
| Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Deeply set eye, Low hanging columella, Unilateral renal agenesis, Long nose,... |
OMIM:613680 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Bardet-Biedl Syndrome 7 |
|
Deeply set eye, Malar flattening, Depressed nasal bridge, Hypogonadism, Hypertelorism |
OMIM:615984 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Deeply set eye, Microretrognathia, Hypotelorism, Hypospadias, Tetralogy of Fallot |
ORPHA:276422 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Short nose, Vascul... |
OMIM:616430 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Deeply set eye, Retrognathia, Anteverted nares, Hypertelorism, Wide nasal bridge |
OMIM:615979 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus, Hyper... |
OMIM:125700 |
| Xq27.3Q28 Duplication Syndrome |
|
Bulbous nose, Deeply set eye, Small hand, Short foot, Decreased testicular size, Hypogonadism, Cr... |
ORPHA:261483 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... |
OMIM:220210 |
| Wilson-Turner Syndrome |
|
Deeply set eye, Small hand, Broad nasal tip, Micrognathia, Hypogonadotropic hypogonadism, Short f... |
ORPHA:3459 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Deeply set eye, Underdeveloped nasal alae, Truncus arteriosus |
OMIM:611867 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Silent Sinus Syndrome |
|
Deeply set eye |
ORPHA:71276 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Deeply set eye |
OMIM:617915 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... |
ORPHA:3426 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Cryptorchidism, Depressed nasal bridge, Micrognathia, Abnormality of the urin... |
ORPHA:1695 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Micrognathia, Proptosis, Short nose, Mandibular aplasia, Ant... |
ORPHA:1832 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... |
OMIM:618164 |
| 17Q21.31 Microduplication Syndrome |
|
Malar flattening, Micrognathia, Short nose, Delayed puberty, Anteverted nares |
ORPHA:217340 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypertelorism, Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Malar flattening, Hypospadias, Tetralogy of Fallot, Abnormal na... |
ORPHA:1919 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Deeply set eye, Cerebral hemorrhage, Decreased response to growth hormone stimul... |
ORPHA:280679 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Respiratory insufficiency, Scapular winging, Acrocyanosis |
ORPHA:2901 |
| Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... |
ORPHA:185 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Deeply set eye, Atrial septal defect, Cryptorchidism, Depressed na... |
OMIM:618316 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Deeply set eye, Nephrotic syndrome, Folate-unresponsive megaloblastic anemi... |
ORPHA:2575 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Malar flattening, Pulmonic s... |
OMIM:179613 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Abnormal renal morphology, Limb undergrowth, Short nos... |
ORPHA:221054 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Deeply set eye, Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Retro... |
OMIM:300845 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... |
ORPHA:141152 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1727 |
| Orofaciodigital Syndrome Xv |
|
Anteverted nares, Hypertelorism, Hydronephrosis, Wide nasal bridge |
OMIM:617127 |
| Perlman Syndrome |
|
Deeply set eye, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Retrognathia... |
ORPHA:2849 |
| Image Syndrome |
|
Depressed nasal bridge, Hypospadias, Micromelia, Adrenal hypoplasia, Hydronephrosis, Hypogonadism... |
ORPHA:85173 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... |
OMIM:155050 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... |
ORPHA:50251 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Short distal phalanx of finger, Truncus arteriosus |
OMIM:601355 |
| Autosomal Dominant Omodysplasia |
|
Cryptorchidism, Malar flattening, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Shor... |
ORPHA:93328 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology |
OMIM:218450 |
| Adams-Oliver Syndrome 6 |
|
Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus... |
OMIM:616589 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Low-set ears, Atrial septal defect, Cyanosis, Tetralogy of Fa... |
OMIM:617478 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Short thumb, Pulmonary artery atresia, Ventricular septal d... |
ORPHA:401935 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Recurrent otitis media, 2-3 toe syndactyly, Atrial septal defect, ... |
ORPHA:3304 |
| 1p36 microdeletion syndrome |
|
Deeply set eye |
DECIPHER:18 |
| 2q37 monosomy |
|
Deeply set eye |
DECIPHER:44 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Micrognathia, Short nose, Renal hypoplasi... |
OMIM:266810 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Short long bone, Neonatal death, Camptodactyly, Bowing of the long bones, P... |
OMIM:619751 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Tetralogy of Fallot, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Misalignment of the pulmonary veins, Neonatal respira... |
OMIM:265120 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defect, Aplas... |
ORPHA:40366 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Cyanosis, Abnormal... |
ORPHA:980 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Deeply set eye, Underdeveloped nasal alae |
OMIM:612138 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Hypertelorism, Enuresis |
OMIM:613670 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Short nose, Depressed nasal ridge |
ORPHA:1355 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose, Deeply set eye |
ORPHA:2429 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough... |
ORPHA:2302 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode |
OMIM:610992 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Deeply set eye, Prominent nose, Wide nasal bridge |
ORPHA:137831 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Respir... |
ORPHA:2299 |
| Galloway-Mowat Syndrome 5 |
|
Deeply set eye, Nephrotic syndrome, Proteinuria, Mandibular prognathia, Hypertelorism, Stage 5 ch... |
OMIM:617731 |
| Megalencephaly |
|
Deeply set eye, Atrial septal defect, Long penis, Wide nasal bridge, Macroorchidism |
ORPHA:2477 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Situs inversus totalis, Hypertrophic ca... |
OMIM:615415 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| 6P22 Microdeletion Syndrome |
|
Deeply set eye, Patent ductus arteriosus, Hydronephrosis, Hypotelorism |
ORPHA:251046 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Micrognathia, Proptosis, Short nose, Short foot, Short metacarpal, Wide nasal bridge |
OMIM:614078 |
| Primary Pulmonary Hypoplasia |
|
Low-set ears, Apnea, Asthma, Secundum atrial septal defect, Cyanosis, Tachypnea, Pneumothorax, De... |
ORPHA:2257 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Deeply set eye |
OMIM:614113 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Tetralogy Of Fallot |
|
Proptosis, Tetralogy of Fallot |
OMIM:187500 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Deeply set eye, Broad nasal tip, Broad columella, Hypothyroidism, Anteverted nares, Wide nasal base |
OMIM:617763 |
| Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Abnormal nasal morphol... |
ORPHA:93110 |
| Glycogen Storage Disease Iii |
|
Deeply set eye, Malar flattening, Broad nasal tip, Depressed nasal bridge, Ventricular hypertroph... |
OMIM:232400 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Cyanosi... |
ORPHA:2414 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Bulbous nose, Depressed nasal bridge, Short nose, Microphallu... |
OMIM:618454 |
| Cornelia De Lange Syndrome 5 |
|
Deeply set eye, Cryptorchidism, Micropenis, Retrognathia, Broad nasal tip, Depressed nasal bridge... |
OMIM:300882 |
| Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D... |
OMIM:617241 |
| Pierpont Syndrome |
|
Short toe, Deeply set eye, Cryptorchidism, Malar flattening, Micropenis, Broad nasal tip, Short n... |
OMIM:602342 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Deeply set eye, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Tetralogy Of Fallot |
|
Abnormal nasal morphology, Proptosis, Cryptorchidism, Tetralogy of Fallot |
ORPHA:3303 |
| Gand Syndrome |
|
Broad nasal tip, Hypertelorism, Deeply set eye, Wide nasal bridge |
OMIM:615074 |
| Rhyns Syndrome |
|
Hypopituitarism, Deeply set eye, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Bulbous nose, Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Small h... |
OMIM:300869 |
| X-Linked Intellectual Disability, Schimke Type |
|
Deeply set eye, Vesicoureteral reflux, Hydronephrosis, Narrow nasal bridge |
ORPHA:85285 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Deeply set eye, Malar flattening, Retrognathia, Broad nasal tip, Depressed nasal bridge, Antevert... |
OMIM:617157 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Respiratory failure, Ab... |
ORPHA:244 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Micrognathia, Hydroureter, Abnormality of the upper urinary tract, Short nos... |
ORPHA:2547 |
| Williams-Beuren Region Duplication Syndrome |
|
Deeply set eye, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,... |
OMIM:609757 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Deeply set eye |
OMIM:619058 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Frontalis muscle weakness, Dilated cardiomyopathy, Facial palsy, Respirator... |
OMIM:300580 |
| Mental Retardation, X-Linked 91 |
|
Small hand, Short nose, Short 5th finger, Short foot |
OMIM:300577 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypotelorism, Hand oligodactyly, Absent thumb, Hypoplasia of the ... |
OMIM:602418 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Deeply set eye, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Wide... |
OMIM:613457 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Malar flattening, Micropenis, Renal agenesis, Depressed nasal bridge, Micrognathi... |
ORPHA:171839 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short distal phalanx of finger, Abnormal aortic morphology, Truncus ar... |
ORPHA:2516 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Perching Syndrome |
|
Respiratory distress, Camptodactyly |
OMIM:617055 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Bulbous nose, Deeply set eye, Hypoplastic left heart, Depressed nasal bridge, Micrognathia, Multi... |
OMIM:618829 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, Bulbous nose, Deeply set eye, Low hanging columella, Renal ag... |
OMIM:618494 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Anterior hypopituitaris... |
OMIM:241800 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Deeply set eye, Aminoaciduria |
ORPHA:833 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Convex nasal ridge, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of... |
ORPHA:3305 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Micrognathia, Deeply set eye, Hypospadias |
OMIM:300934 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Deeply set eye, Prominent nose |
OMIM:615541 |
| Chromosome 18P Deletion Syndrome |
|
Cryptorchidism, Micropenis, Micrognathia, Decreased testicular size, Anteverted nares, Hypertelor... |
OMIM:146390 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Deeply set eye, Micrognathia, Hypertelorism, Wide nasal bridge |
ORPHA:261304 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia |
ORPHA:1918 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... |
ORPHA:95430 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Deeply set eye, Decreased serum testosterone concentration, Cryptorchidism, Small hand, Hypergona... |
ORPHA:163971 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Horner Syndrome, Congenital |
|
Deeply set eye |
OMIM:143000 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Short nose,... |
ORPHA:1529 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Short nose, Neutropenia, Hypertelorism, Wid... |
OMIM:612563 |
| Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Hearing impairment, Pat... |
OMIM:617516 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea, C... |
OMIM:610910 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dental malocclusion, Deeply set eye, Atrial septal defect, Low hanging columella, Muscular ventri... |
ORPHA:363444 |
| Pettigrew Syndrome |
|
Mandibular prognathia, Deeply set eye, Prominent nose |
OMIM:304340 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Deeply set eye |
OMIM:300471 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Deeply set eye, Pseudohypoparathyroidism, Cryptorchidism, De... |
ORPHA:464288 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Pectus excavatum, Camptodactyly of finger, Respiratory insufficiency, Abnor... |
OMIM:614399 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... |
OMIM:617895 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure, Nasal... |
ORPHA:70587 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Micrognathia, Hypospadias, Tetralogy of Fallot, Ven... |
ORPHA:1913 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... |
ORPHA:261243 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Deeply set eye, Hypoplastic left heart, Cryptorchidism, Atrio... |
ORPHA:251071 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Hypertelorism, Deeply set eye |
OMIM:614257 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Small hand, Left ventricular hypertrophy, Micrognathia, Anemia, Hypospadias, Rhiz... |
OMIM:611209 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Micrognathia, Bulbous nose, Deeply set eye, Short nose |
OMIM:613604 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypotelorism, Hypoplastic left heart, Micrognathia, Coarctation of... |
ORPHA:2209 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Depressed nasal bridge, Limb undergrowth, Proptosis, Short nose, Patent ductus arteri... |
OMIM:618961 |
| 20Q11.2 Microdeletion Syndrome |
|
Hypertelorism, Deeply set eye |
ORPHA:444051 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Deeply set eye, Cryptorchidism, Hypoplasia of the maxilla, Decreased testicular size, Short palm,... |
ORPHA:85279 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydroureter, Hydronephrosis |
OMIM:264140 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Deeply set eye, Shortening of all distal phalanges of the fingers, Micropenis, Delayed... |
OMIM:301900 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Co... |
ORPHA:2008 |
| Joubert Syndrome 37 |
|
Deeply set eye, Cryptorchidism, Micropenis, Wide nose, Decreased testicular size, Hydronephrosis,... |
OMIM:619185 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Congenital hip dislocation, Macro... |
OMIM:609029 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... |
OMIM:616749 |
| Harel-Yoon Syndrome |
|
Deeply set eye, Micrognathia, Short nose, Mandibular prognathia, Hypertrophic cardiomyopathy |
OMIM:617183 |
| Warburg Micro Syndrome 1 |
|
Deeply set eye, Micrognathia, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:600118 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Broad nasal tip, Short nose, Narrow nasal ridge, Anteverted nares, ... |
OMIM:137550 |
| Congenital Laryngeal Web |
|
Respiratory distress, Abnormal cardiac septum morphology, Stridor |
ORPHA:2374 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Deeply set eye, Hypotelorism, Depressed nasal ridge, Malar flattening, Small hand, Anteverted nar... |
OMIM:618672 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Bulbous nose, Deeply set eye, Broad nasal tip, Depressed nasal bridge, Micrognathia, Anteverted n... |
ORPHA:480907 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Abnormality of the... |
ORPHA:1248 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Cough, Decreased DLCO, Foam cells, Restrictive ventilatory defect, Hypoxemia,... |
ORPHA:747 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Deeply set eye, Shortening of all distal phalanges of the fingers, Abnormal renal collecting syst... |
OMIM:616809 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| 12Q14 Microdeletion Syndrome |
|
Deeply set eye, Abnormality of the nares, Micrognathia, Abnormality of the spleen, Wide nose, Ren... |
ORPHA:94063 |
| Intellectual Developmental Disorder, X-Linked 108 |
|
Deeply set eye |
OMIM:301024 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Micrognathia, Proptosis, Short nose, Anteverted nares, Hypertelorism, Wide nasal ... |
OMIM:618577 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Stormorken Syndrome |
|
Deeply set eye, Hypotelorism, Prominent nose, Anemia, Thrombocytopenia, Epistaxis, Stroke-like ep... |
OMIM:185070 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Broad nasal tip, Micrognathia, Mesomelia, Proptosis, Short nose, Anteverte... |
OMIM:618529 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... |
OMIM:613496 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Deeply set eye, Micrognathia, Short nose, 3-Methylglutaconic aciduria, Delayed puberty, Mandibula... |
ORPHA:496790 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Deeply set eye, Bicuspid aortic valve, Pulmonic stenosis, Depressed nasal bridge, C... |
ORPHA:284169 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deeply set eye, Micrognathia, Short tibia, 11 pairs of ribs, Prominent nose, Hypertelorism, Fibul... |
OMIM:201170 |
| Al-Raqad Syndrome |
|
Short nose, Deeply set eye |
OMIM:616459 |
| Holoprosencephaly 3 |
|
Hypotelorism, Malar flattening, Depressed nasal bridge, Abnormality of the nose, Proptosis, Cyclo... |
OMIM:142945 |
| Pierpont Syndrome |
|
Short toe, Deeply set eye, Cryptorchidism, Malar flattening, Hypertelorism, Wide nasal ridge, Sho... |
ORPHA:487825 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Broad nasal tip, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, ... |
OMIM:615524 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Renal agenesis, Hypoplasia of the ulna, Renal hypoplasia,... |
OMIM:212780 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Aplasia of the proxima... |
ORPHA:2256 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... |
OMIM:610913 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Micrognathia, Abnormality of the upper urinary tract, Abnor... |
ORPHA:2145 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopa... |
ORPHA:3033 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Deeply set eye, Malar flattening, Broad nasal tip, Depressed nasal bridge, Wide nose, ... |
OMIM:600430 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypertelorism, Short nose, Hypoplasia of penis |
ORPHA:217385 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Cryptorchidism, Depressed nasal ridge, Micrognathia, Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Severe hearing impairment, Pulmonic stenosis, Congen... |
ORPHA:96170 |
| Frank-Ter Haar Syndrome |
|
Deeply set eye, Depressed nasal bridge, Delayed eruption of teeth, Mitral valve prolapse, Mandibu... |
ORPHA:137834 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Deeply set eye |
OMIM:617268 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Narrow pelvis bone, Short thorax, Missing ribs |
ORPHA:66637 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Deeply set eye, Prominent nasal bridge, Broad columella |
ORPHA:457365 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Tetralogy of Fallot, Short nose, Ventricular hypertrophy, Hypertelorism |
OMIM:300887 |
| Freeman-Sheldon Syndrome |
|
Deeply set eye, Cryptorchidism, Depressed nasal ridge, Hypertelorism, Underdeveloped nasal alae, ... |
ORPHA:2053 |
| Cat-Eye Syndrome |
|
Hypertelorism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Dyspnea, Neonatal deat... |
OMIM:610921 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Square pelvis bone, Patent ductus arte... |
ORPHA:166272 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Prominent sternum, Respiratory distress |
ORPHA:2140 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Deeply set eye, Decreased serum testosterone concentration, Cleft ala nasi, Elevated circulating ... |
ORPHA:3044 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Dysmyelination With Jaundice |
|
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Webb-Dattani Syndrome |
|
Deeply set eye, Decreased response to growth hormone stimulation test, Retrognathia, Hydronephros... |
OMIM:615926 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Hypertelorism, Short nose |
OMIM:613443 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Hypertelorism, Short nose |
ORPHA:438178 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Deeply set eye, Convex nasal ridge, Micropenis, Micrognathia, Large beaked nose |
OMIM:610756 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory def... |
ORPHA:98913 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Bicuspid aortic valve, Deeply set eye, Atrial septal defect, Pulmonic stenos... |
OMIM:619149 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Deeply set eye |
OMIM:618859 |
| Teebi Hypertelorism Syndrome 2 |
|
Broad nasal tip, Depressed nasal bridge, Hypospadias, Delayed eruption of teeth, Proptosis, Short... |
OMIM:619736 |
| Toluene Embryopathy |
|
Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Abnormal localization of kidney, Hydr... |
ORPHA:1920 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Depressed nasal bridge, Short nose, Hypertelorism |
OMIM:616910 |
| Pentasomy X |
|
Abnormal cardiac septum morphology, Small hand, Micrognathia, Patent ductus arteriosus, Short foo... |
ORPHA:11 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Micrognathia, Short nose, Delayed puberty |
ORPHA:2598 |
| Rhyns Syndrome |
|
Chronic kidney disease, Deeply set eye, Decreased response to growth hormone stimulation test, Ne... |
OMIM:602152 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Deeply set eye, Atrial septal defect, Cryptorchidism, Long nose, Hypospadias, Narrow nose, Coarct... |
OMIM:617602 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
| Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Micrognathia, Ureteral duplication, Tetralogy of Fallot, Ve... |
ORPHA:1926 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased size of the mandible, Increased mean platelet volume, Patent ductus arteriosus, Hydrone... |
OMIM:300048 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Deeply set eye, Persistence of primary teeth, Retrognathia, Micrognathia, Anteverted nares, Wide ... |
OMIM:618342 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension |
OMIM:234810 |
| Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short nose, Deeply set eye, Prominent nasal bridge |
OMIM:300558 |
| Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Exert... |
ORPHA:199241 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing |
OMIM:618188 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Deeply set eye, Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Tetralogy of Fall... |
ORPHA:3306 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Overtubulated long bones, Cyanosis |
OMIM:619793 |
| Smith-Magenis Syndrome |
|
Deeply set eye, Abnormality of the thyroid gland, Malar flattening, Abnormality of the urinary sy... |
OMIM:182290 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Proptosis, Short nose |
ORPHA:2370 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Micrognathia, Deeply set eye |
OMIM:618381 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Hearing impairment, Recurrent otitis media |
OMIM:615993 |
| Amyotrophy, Hereditary Neuralgic |
|
Depressed nasal bridge, Deeply set eye, Hypotelorism, Long nasal bridge |
OMIM:162100 |
| Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Overfolded helix, Abnormal ... |
ORPHA:2759 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Chronic otitis media, Bronchiectasis |
OMIM:619466 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Hypertelorism, Deeply set eye, Short nose |
OMIM:618087 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Deeply set eye, Malar flattening |
ORPHA:85280 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Cyanosis, Cough, Pulmonary a... |
ORPHA:2038 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short... |
OMIM:613458 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Micrognathia, Short nose, Hydronephrosis, Cryptorchidism, Prominent nasal br... |
ORPHA:2083 |
| Chung-Jansen Syndrome |
|
Cryptorchidism, Micrognathia, Short nose, Anteverted nares, Hypertelorism |
OMIM:617991 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Deeply set eye, Convex nasal ridge, Cryptorchidism, Decreased response to growth hormone stimulat... |
OMIM:241410 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Hypoplasia of the radius, Renal cyst, Hydronephrosis, Stage 5 chronic kidney diseas... |
OMIM:613390 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Flared elbow metaphyses, Short long bone |
ORPHA:1423 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Hypertelorism, Short nose, Macroorchidism |
OMIM:300143 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hypertelorism, Delayed eruption of teeth, Patent ductus arteriosus, Hydronephrosis, Cryptorchidism |
OMIM:619797 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Situs inversus totalis, Dextrocardia, Ciliary dysk... |
OMIM:606763 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Malar flattening, Depressed nasal bridge, Hypospadias, Congenital hypothyroidism, Short nose, Dia... |
OMIM:614613 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Micropenis, Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Wide nose... |
OMIM:300209 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Atrial septal defect, Short ribs, Ventricular ... |
ORPHA:2519 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... |
OMIM:617992 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... |
OMIM:306955 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Deeply set eye, Depressed nasal bridge, Short nose, Vesicoureteral reflux, Prominen... |
OMIM:618828 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia |
OMIM:614744 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose, Deeply set eye |
ORPHA:228384 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... |
ORPHA:99125 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... |
ORPHA:439 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Short ribs, Short femur, Micrognathia, Micropenis, Hypospadias, Vent... |
OMIM:616897 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality of the k... |
ORPHA:391372 |
| Tarp Syndrome |
|
Short sternum, Hypoplasia of the radius, Micrognathia, Tetralogy of Fallot, Horseshoe kidney, Hyd... |
OMIM:311900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Deeply set eye |
OMIM:618512 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Short nose, Renal cyst, Ren... |
OMIM:615583 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Deeply set eye, Hypotelorism, Malar flattening, Micrognathia, Short humerus, Hypoplastic scapulae... |
OMIM:602471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Deeply set eye, Malar flattening, Micropenis, Depressed nasal bridge, Horseshoe kidney, Short foo... |
OMIM:300860 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Polydactyly, Chro... |
ORPHA:137914 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
| Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Deeply set eye, Micrognathia, Horseshoe kidney, Cryptorchidism, Prominent nasal bridge |
ORPHA:502434 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
| Baller-Gerold Syndrome |
|
Abnormal cardiac septum morphology, Hypotelorism, Aplasia/Hypoplasia of the thumb, Hand oligodact... |
ORPHA:1225 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Deeply set eye, Asplenia |
ORPHA:3204 |
| Deafness-Craniofacial Syndrome |
|
Deeply set eye, Patent ductus arteriosus, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:3241 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Abnormality of globe location, Deeply set eye, Short foot, Micrognathia |
ORPHA:576283 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Deeply set eye |
OMIM:300699 |
| Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
| Smith-Magenis Syndrome |
|
Deeply set eye, Taurodontia, Precocious puberty, Renal hypoplasia/aplasia, Depressed nasal bridge... |
ORPHA:819 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Deeply set eye, Prominent nasal bridge |
OMIM:611523 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Reduced subcutaneous adipose tissue, Conductive hearing impairment, Protruding ear, Clinodactyly ... |
OMIM:602249 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Ventricular septal defect, Broad ... |
ORPHA:508498 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology |
OMIM:184800 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Precocious puberty, Atrial septal defect, Short distal phalanx of... |
OMIM:619356 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary tract infections, Erythroid hyp... |
OMIM:612541 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasi... |
OMIM:214110 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Hypoplasia of penis, Abnormality of the nares, Hypogonadotropic h... |
ORPHA:1295 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Trisomy 12P |
|
Supernumerary nipple, Malar flattening, Micrognathia, Abnormality of the urinary system, Proptosi... |
ORPHA:1699 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Short humerus, Enlarged kidney, Transposition of... |
OMIM:314390 |
| Acrodysostosis |
|
Short toe, Cryptorchidism, Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridg... |
ORPHA:950 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Sulfite Oxidase Deficiency, Isolated |
|
Deeply set eye, Delayed eruption of teeth, Decreased urinary sulfate, Increased urinary sulfite, ... |
OMIM:272300 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Hypertelorism, Hypotelorism, Short nose |
OMIM:613544 |
| Acute Interstitial Pneumonia |
|
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... |
ORPHA:79126 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Micropenis, Retrognathia, Micrognathia, Abnormality of dental... |
ORPHA:96092 |
| Joubert Syndrome 14 |
|
Deeply set eye, Malar flattening, Renal cyst, Hypertelorism, Prominent nasal bridge |
OMIM:614424 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Hydroureter, Hydronephrosis, Diabetes me... |
OMIM:598500 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Deeply set eye, Atrial sept... |
ORPHA:52 |
| Trisomy 1Q |
|
Hypotelorism, Microretrognathia, Cryptorchidism, Congenital megaureter, Depressed nasal bridge, M... |
ORPHA:261344 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Hypogonadism, Short nasal sep... |
OMIM:302950 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Cryptorchidism, Micrognathia, Multicystic kidney dysplasia, Delayed eruptio... |
ORPHA:85201 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Deeply set eye, Convex nasal ridge, Increased circulating cortisol level, Abnor... |
ORPHA:1227 |
| Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Basilicata-Akhtar Syndrome |
|
Deeply set eye, Precocious puberty, Retrognathia, Short foot, Choanal stenosis, Anteverted nares,... |
OMIM:301032 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Hypoxemia, Vertigo, Dyspnea |
ORPHA:464453 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Right ventricular hypertrophy, Ventricular ... |
OMIM:614261 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Deeply set eye, Urinary incontinence |
OMIM:301025 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, A... |
ORPHA:477817 |
| Distal Trisomy 18Q |
|
Hypoplasia of penis, Micrognathia, Carious teeth, Short nose, Choanal atresia, Anteverted nares, ... |
ORPHA:1716 |
| Stromme Syndrome |
|
Deeply set eye, Micrognathia, Bilateral renal hypoplasia, Accessory spleen, Hydronephrosis, Short... |
OMIM:243605 |
| Stickler Syndrome Type 1 |
|
Mitral valve prolapse, Proptosis, Short nose, Hypoplasia of the maxilla |
ORPHA:90653 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Coronal hypospadias, Bilateral choanal atresia, Short nose, Choanal atres... |
OMIM:619859 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, P... |
OMIM:614886 |
| Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Short nose, Narrow nasal bridge |
ORPHA:1514 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Renal hypoplasia/aplasia, Deeply set eye |
ORPHA:2570 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Malar flattening, Hypoplasia of penis, Micrognathi... |
ORPHA:261290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Deeply set eye, Hypotelorism, Micropenis, Long nose, Prominent nose, Mandibular prognathia, Crypt... |
OMIM:300486 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Malar flattening, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Micrognat... |
OMIM:235255 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Peho-Like Syndrome |
|
Retrognathia, Short nose |
OMIM:617507 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, T lymphocytopenia, Short nose,... |
OMIM:242860 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Pulmonic stenosis, Carious teeth, Short nose, Anteverted nares, Hypertelorism, Hy... |
ORPHA:2701 |
| Trisomy 13 |
|
Deeply set eye, Hypotelorism, Atrial septal defect, Malar flattening, Abnormality of the ureter, ... |
ORPHA:3378 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Short humerus, Wide nose, Short nose, Rhizomelia, Mandibular prognathia, S... |
ORPHA:2831 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Seckel Syndrome 8 |
|
Micrognathia, Convex nasal ridge, Ectopic kidney |
OMIM:615807 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodactyly... |
OMIM:619910 |
| Acromicric Dysplasia |
|
Bulbous nose, Small hand, Short nose, Anteverted nares, Short palm, Short metacarpal |
ORPHA:969 |
| Distal Tetrasomy 15Q |
|
Hydrocele testis, Atrial septal defect, Retrognathia, Micrognathia, Abnormality of the kidney, Ne... |
ORPHA:314588 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Deeply set eye |
OMIM:618158 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Short nose, Man... |
ORPHA:261494 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Asthma, Atrial septal defect, Crackles, Ch... |
OMIM:610978 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Cryptorchidism, Deeply set eye, Micropenis |
OMIM:618504 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Bulbous nose, Deeply set eye, Hypotelorism, Microretrognathia, Long nose, Short nose, Absent nasa... |
ORPHA:261211 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Right ventricular hypertrophy, Left ventricular hypertrophy, Cyanosis, Paroxysmal dyspnea, Strido... |
ORPHA:444013 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Deeply set eye, Convex nasal ridge, Hypotelorism, Lymphopenia, Cryptorchidism, Unilateral renal a... |
OMIM:616541 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism, Thrombocytopenia |
OMIM:616937 |
| Desanto-Shinawi Syndrome |
|
Bulbous nose, Hypertelorism, Deeply set eye, Depressed nasal bridge |
OMIM:616708 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Prolidase Deficiency |
|
Splenomegaly, Anemia, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Proptosis, Short no... |
OMIM:170100 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Hip d... |
ORPHA:1143 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
| Rare Circulatory System Disease |
|
Abnormality of finger, Arterial calcification, Abnormal metatarsal morphology, Cyanosis, Abnormal... |
ORPHA:98028 |
| Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Lymphopenia, S... |
ORPHA:84064 |
| Distal Trisomy 5Q |
|
Cryptorchidism, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypospadias, Carious teeth,... |
ORPHA:96097 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Deeply set eye, Convex nasal ridge, Hypoplasia of penis, Small hand, Depresse... |
ORPHA:2323 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Deeply set eye, Micrognathia, Delayed eruption of teeth, Carious teeth, Prominent nose, Cryptorch... |
OMIM:214150 |
| Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Abnormal cardiac septum morphology, Hydronephrosis, Mandibular prognathia, H... |
ORPHA:3079 |
| Fibrochondrogenesis 2 |
|
Malar flattening, Short ribs, Micrognathia, Short nose, Anteverted nares |
OMIM:614524 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Infantile sensorineural hearing impairment, Respiratory insufficiency, Recu... |
ORPHA:254875 |
| Pde4D Haploinsufficiency Syndrome |
|
Short toe, Hypotelorism, Prominent nasal tip, Cryptorchidism, Malar flattening, Elevated circulat... |
ORPHA:439822 |
| 1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Hypotelorism, Hypergonadotropic hypogonadism, Broad nasal tip, Depressed nasal br... |
ORPHA:250999 |
| Odontochondrodysplasia 1 |
|
Narrow chest, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Metaphyse... |
OMIM:184260 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Hydrocele testis, Bulbous nose, Deeply set eye, Low hanging columella, Retrognathia, Hyperteloris... |
OMIM:619493 |
| Waardenburg Syndrome Type 3 |
|
Abnormality of finger, Atrial septal defect, Tracheomalacia, Camptodactyly of finger, Synostosis ... |
ORPHA:896 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, Horseshoe kidney, P... |
OMIM:235510 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Unilateral renal agenesis, Micrognathia, Bilateral choanal atresia, Bilater... |
OMIM:608572 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Deeply set eye, Prominent nasal bridge, Hypoplasia of the zygomatic bone |
ORPHA:319171 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Bulbous nose, Deeply set eye, Hypotelorism, Atrial septal defect, Decreased response to growth ho... |
OMIM:614114 |
| Potocki-Shaffer Syndrome |
|
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Micropenis |
OMIM:601224 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Deeply set eye, Supernumerary nipple, Ventricular septal defect, Cryptorchidism, Prominent nasal ... |
OMIM:617635 |
| Insulin-Like Growth Factor I, Resistance To |
|
Deeply set eye, Atrial septal defect, Retrognathia, Micrognathia, Small hand, Ventricular septal ... |
OMIM:270450 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Micrognathia, Bulbous nose, Deeply set eye, Hypotelorism |
OMIM:614104 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Deeply set eye, Hypoplasia of penis, Hypogonadism |
ORPHA:2983 |
| Joubert Syndrome 35 |
|
Depressed nasal bridge, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal f... |
OMIM:618161 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Deeply set eye, Cryptorchidism, Supernumerary nipple, Hypoplasia of penis, Retrognathia, Depresse... |
ORPHA:1812 |
| Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Luo-Schoch-Yamamoto Syndrome |
|
Deeply set eye, Small hand, Depressed nasal bridge, Wide nose, Short foot, Anteverted nares, Hype... |
OMIM:619460 |
| Ssr4-Cdg |
|
Deeply set eye, Patent ductus arteriosus, Horseshoe kidney |
ORPHA:370927 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Long nose, Abnormality of the urinary system, Tetralogy of Fal... |
ORPHA:2184 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Lower limb undergrowth, Increased ... |
OMIM:613630 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Depressed nasal bridge, Proptosis, Short nose, Choanal atresia, A... |
ORPHA:1914 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Microretrognathia, Cryptorchidism, Ventricular septal defect, Patent forame... |
OMIM:618950 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Pa... |
ORPHA:371428 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Retrognathia, Micrognathia, Persistence ... |
OMIM:612561 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Micrognathia, Short nose, Thick nasal alae, Hypertelorism |
ORPHA:163961 |
| Microform Holoprosencephaly |
|
Hypotelorism, Hypoplasia of penis, Renal agenesis, Panhypopituitarism, Maternal diabetes, Tetralo... |
ORPHA:280200 |
| Mosaic Trisomy 8 |
|
Deeply set eye, Cryptorchidism, Broad nasal tip, Micrognathia, Wide nose, Patellar aplasia, Decre... |
ORPHA:96061 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, Short nose, Hypotelorism |
OMIM:615042 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:261330 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Cryptorchidism, Micropenis, Pulmonic stenosis, Retrognathia, Leuko... |
OMIM:301056 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Depressed nasal bridge, Hepatosplenomegaly, Short nose, Polyc... |
OMIM:608776 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Short nose, Nephropathy |
ORPHA:531 |
| 2Q37 Microdeletion Syndrome |
|
Deeply set eye, Short metacarpal, Supernumerary nipple, Small hand, Depressed nasal bridge, Nephr... |
ORPHA:1001 |
| Radio-Tartaglia Syndrome |
|
Bulbous nose, Deeply set eye, Prominent nasal tip, Precocious puberty, Retrognathia, Depressed na... |
OMIM:619312 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Short clavicles, Micrognathia... |
ORPHA:2484 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... |
ORPHA:2847 |
| Short Syndrome |
|
Short palm, Deeply set eye, Malar flattening, Wide nasal bridge, Abnormal zygomatic bone morpholo... |
ORPHA:3163 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Atrial septal defect, Micropenis, Ventricular septal defect, Short nose, Patent duc... |
OMIM:613870 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Depressed nasal bridge, Ureteral triplication, Mitral valve prolapse, Patent ductu... |
OMIM:104350 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Cya... |
ORPHA:99104 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Depressed nasal bridge, Hyposp... |
OMIM:614732 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Pulmonary artery stenosis, Malar flattening, Retrognathia, Micrognathia, Va... |
OMIM:613177 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Small hand, Depressed nasal bridge, Micrognathia, Ventric... |
OMIM:145420 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... |
OMIM:610655 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Bulbous nose, Deeply set eye, Short toe, Micropenis, Broad nasal tip, Acromesomelia, Hypogonadism... |
ORPHA:3041 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Atrioventricular canal defect, Retrognathia, Micrognathia, Hypospadias, Coarc... |
ORPHA:2409 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... |
OMIM:252320 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Micrognathia,... |
OMIM:115470 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Micrognathia, Abnormality of the ureter, Abnormality of the urinary sys... |
ORPHA:1834 |
| Christianson Syndrome |
|
Abnormality of the nose, Mandibular prognathia, Deeply set eye |
ORPHA:85278 |
| Distal Trisomy 6P |
|
Micrognathia, Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis, Prominent nasa... |
ORPHA:1745 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Deeply set eye, Retrognathia, Micrognathia, Aortic dissection, Vascular dilatation, Narrow nasal ... |
OMIM:618343 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... |
ORPHA:2704 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Hypoparathyroidism, Atrial septal defect, Decreased response to gr... |
OMIM:618223 |
| Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, Small hand, Upper limb undergrowth, Camptodactyly, Optic at... |
OMIM:608799 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Abnormal heart morphology |
DECIPHER:52 |
| Zaki Syndrome |
|
Renal agenesis, Micrognathia, Hypoplasia of the phalanges of the toes, Wide nose, Patent ductus a... |
OMIM:619648 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Micrognathia, Micromelia, Mesomelia, Short nose, Rhizomelia, Anteverted n... |
ORPHA:93329 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Renal agenesis, Hypogonadotropic hypogonadism, Pulmona... |
ORPHA:2326 |
| Tarp Syndrome |
|
Abnormal antihelix morphology, Hypoplasia of proximal radius, Apnea, Pectus excavatum, Short ster... |
ORPHA:2886 |
| Barth Syndrome |
|
Deeply set eye, Granulocytopenia, Hypochromic microcytic anemia, Endocardial fibroelastosis, Cycl... |
OMIM:302060 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Finger joint hypermo... |
ORPHA:363705 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Short toe, Pectus excavatum, Prominent sternum, Clinodactyly of th... |
OMIM:617877 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Micrognathia, Short nose, Proteinuria, Anteverted nares, Hypoplasia of te... |
OMIM:249620 |
| Developmental And Epileptic Encephalopathy 75 |
|
Proptosis, Short nose, Anteverted nares, Hypertelorism, Cardiomyopathy, Wide nasal bridge |
OMIM:618437 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Deeply set eye, Recurrent urinary tract infections, Proptosis, Short 3rd toe, Short 4th toe |
OMIM:618707 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Deeply set eye, Hypotelorism, Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thr... |
OMIM:603585 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Adducted thumb, Patent foramen ovale, Rocker bottom f... |
ORPHA:89844 |
| Cdkl5-Deficiency Disorder |
|
Deeply set eye |
ORPHA:505652 |
| Congenital Myasthenic Syndrome |
|
Sensorineural hearing |
