Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Prune Belly Syndrome |
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Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... |
ORPHA:2970 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Recurrent bronchitis, Otitis media, High-frequency hearing impairment |
OMIM:300455 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Chylomicron Retention Disease |
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Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Renal Caliceal Diverticuli-Deafness Syndrome |
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Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... |
ORPHA:2838 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Conductive hearing impa... |
OMIM:616726 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Neonatal hypoproteinemia |
OMIM:152800 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Small for gestational age, Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormality of... |
ORPHA:294975 |
Mandibulofacial Dysostosis With Alopecia |
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Hydroureter, Dental crowding, Delayed eruption of primary teeth, Cupped ear, Cleft palate, Protru... |
OMIM:616367 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Congenital Primary Megaureter |
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Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Ciliary Dyskinesia, Primary, 21 |
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Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno... |
ORPHA:2547 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
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Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for gestational age, Deep phi... |
OMIM:615398 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Refractory Celiac Disease |
|
Hypomagnesemia, Lymphoma, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoprote... |
ORPHA:398063 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Hydrocephalus, Tracheoesophageal fist... |
ORPHA:2437 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morphology, Multic... |
ORPHA:2461 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Hydroureter, Abnormal dental morpho... |
ORPHA:568 |
Raine Syndrome |
|
Short neck, Protruding ear, High palate, Microdontia, Neonatal death, Death in infancy, Gingival ... |
OMIM:259775 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, Hi... |
ORPHA:280633 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, High palate, Scoliosis |
OMIM:611225 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia |
OMIM:274265 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Carpenter Syndrome 1 |
|
Sacral dimple, Hydroureter, Abnormal pinna morphology, Short neck, Persistence of primary teeth, ... |
OMIM:201000 |
Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... |
ORPHA:2357 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Primary Intestinal Lymphangiectasia |
|
Disseminated cutaneous warts, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypopro... |
ORPHA:90362 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Neonat... |
OMIM:146510 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Hydronephrosis |
OMIM:618240 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Abnormal lung lobation, Neonatal death, Hypospadias, Esophageal atresia, Pulmonary artery stenosi... |
OMIM:265380 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism... |
ORPHA:1926 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Aplasi... |
ORPHA:3027 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High palate, Prenatal death, Low-... |
OMIM:618393 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Recurrent otitis media, Recurrent lower respiratory trac... |
OMIM:620321 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Cong... |
ORPHA:261344 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... |
ORPHA:96169 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... |
OMIM:100100 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V... |
OMIM:618845 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Atelectasis, ... |
OMIM:300219 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck |
ORPHA:2744 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... |
ORPHA:93929 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Hydroureter, Hydronephrosis |
OMIM:598500 |
Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate, Protruding ear |
ORPHA:3448 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... |
OMIM:616898 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Hydroureter, Posteriorly rotated ears, Short neck, Cryptorchidism, Clef... |
OMIM:610759 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Valv... |
OMIM:300707 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormality of the ure... |
ORPHA:2487 |
Sandhoff Disease |
|
Recurrent respiratory infections, Kyphosis, Congestive heart failure, Failure to thrive, Hearing ... |
ORPHA:796 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... |
ORPHA:2241 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality... |
ORPHA:289 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulm... |
ORPHA:70589 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... |
ORPHA:1756 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, S... |
OMIM:305620 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Thin upper lip vermilion, Hydroureter, Posteriorly rotated ears, Unilateral ren... |
OMIM:619194 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon |
OMIM:619362 |
Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, ... |
ORPHA:2604 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Bladder exstrophy, Thoracolumbar scoliosis, Cleft soft palate, Portal hype... |
OMIM:301068 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Sensorineural hearing impairment, Cardiomyopathy, Dysphagia, Tes... |
OMIM:222300 |
Fanconi Anemia |
|
High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Azoospermia, Scoliosis... |
ORPHA:84 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Hypoplasia of penis, Short neck, High, narrow palate, ... |
ORPHA:373 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Hypoproteinemia |
ORPHA:2315 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Abnormal lung lobation,... |
ORPHA:369837 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... |
OMIM:612290 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Hydrocephalus,... |
ORPHA:85284 |
Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter, Pulmonic stenosis, Short neck |
OMIM:616559 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... |
ORPHA:223 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology, Round ear |
ORPHA:1450 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... |
OMIM:610978 |
Oeis Complex |
|
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Intestinal malr... |
OMIM:258040 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia |
OMIM:603554 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Recurrent respiratory infections |
ORPHA:85288 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Large for gestational age, Large fleshy ears, High palate, Gastroesophageal... |
OMIM:614080 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Abnormality of the auditory canal, Kyphosis, Failure to thrive, Ventriculomegaly, Hearing impairment |
ORPHA:319199 |
Branchiootorenal Syndrome 1 |
|
High palate, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, Bifid uvula, Dila... |
OMIM:113650 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Lo... |
OMIM:236500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel... |
OMIM:604292 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A... |
ORPHA:79404 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... |
ORPHA:70588 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypospadias, Abnormality of the dentition, Kyphosis, Aplasia/Hy... |
ORPHA:1548 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Open bite, Cryptorchidism, Kyphosis, Dental malocclu... |
ORPHA:2471 |
Emanuel Syndrome |
|
Dental crowding, High palate, Gastroesophageal reflux, Micropenis, Dandy-Walker malformation, Cry... |
OMIM:609029 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... |
ORPHA:2302 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Posteriorly rotated ears, Kyphosis, Decreased body weight, Macrotia |
OMIM:618392 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Short neck, Wide ... |
ORPHA:2995 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Hearing impairment |
OMIM:618237 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Penile Agenesis |
|
Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Rectal fistula, Cryptorchidism, Fe... |
ORPHA:49 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter... |
ORPHA:1834 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Kyphosis, Hydrocephal... |
ORPHA:2635 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour... |
OMIM:129900 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Obesity, Horseshoe kidney, Ant... |
OMIM:619426 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Nephrocalcinosis, Oligosacchariduria,... |
ORPHA:534 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Atelectas... |
ORPHA:2902 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Cupped ear, Mandi... |
OMIM:602483 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Chand Syndrome |
|
Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph... |
ORPHA:1401 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Spina bifida occulta, Da... |
OMIM:135900 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis |
ORPHA:254361 |
Noonan Syndrome 4 |
|
Ureteral duplication, Posteriorly rotated ears, Short neck, Large for gestational age, Cryptorchi... |
OMIM:610733 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Micropenis, Macrotia, Scheuermann-like vertebral ch... |
OMIM:301900 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-set ears, Neonatal death |
OMIM:611890 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, K... |
ORPHA:90324 |
Ck Syndrome |
|
Posteriorly rotated ears, Dental crowding, Hyperlordosis, Kyphosis, High palate, Scoliosis, Slend... |
OMIM:300831 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted lower lip vermilion, Sho... |
ORPHA:2429 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Tented upper lip vermilion, Hearing impairment |
ORPHA:896 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears, Hamartoma of ... |
OMIM:269860 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Conductive hearing impairmen... |
OMIM:244400 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Hearing impairment |
OMIM:617087 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis |
OMIM:300718 |
Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walke... |
OMIM:147800 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Hypospadias, Abnormality of the dentition, Cryptorchidism, Kyphosis, T... |
ORPHA:94065 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Bor Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Abnormalit... |
ORPHA:107 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, High palate, Short philtrum, Low-set ears, Micropenis, Macrotia, Decrea... |
OMIM:615433 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Microdontia, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Low-set ears, Sco... |
ORPHA:536467 |
Hall-Riggs Syndrome |
|
Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,... |
OMIM:234250 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Cleft palate, Protruding ear, Short philtrum, Scoliosis |
ORPHA:85317 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity, Scoliosis |
OMIM:616756 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia |
OMIM:618453 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Kyphosis, Deep philtrum, Orofacial cleft, Inco... |
ORPHA:77300 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Bronc... |
OMIM:620233 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Gastroesoph... |
ORPHA:7 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Short neck, Open bite, Kyphosis, Dental malocclusion, Gingival ... |
ORPHA:61 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hypospadias, Hyperlordosis, Kyphosis, D... |
OMIM:615761 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
Masa Syndrome |
|
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis |
OMIM:303350 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Short neck, Large for gestational age, Renal cy... |
OMIM:229850 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Dysphagia, Scoliosis, Spinal rigidity |
OMIM:618323 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Recurrent urinary tract infections, Hydrou... |
ORPHA:105 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, P... |
OMIM:236700 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Hyperlordosis, Atelectasis, Dysphagia, Macroglossia, Cardiomyopathy, Reduced l... |
ORPHA:258 |
Vici Syndrome |
|
Recurrent respiratory infections, Death in infancy, Sensorineural hearing impairment, Ureteral at... |
ORPHA:1493 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, E... |
ORPHA:2869 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Death in infancy, Ureteral duplication, Renal insufficiency, Posteriorly rotated... |
OMIM:608836 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congenital... |
ORPHA:2617 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic ... |
ORPHA:261222 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Se... |
ORPHA:2549 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing impairment,... |
ORPHA:3378 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Short neck, Macroglossia, L... |
OMIM:269150 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... |
OMIM:602200 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Low-set ears, A... |
OMIM:270420 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Lumbar hyper... |
OMIM:309800 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... |
OMIM:214300 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Kyphosis, Deep philtrum, Narrow mouth, Wide mouth, Short philtrum, Thi... |
OMIM:615834 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Hypocholesterolemia |
OMIM:618810 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Short mandibu... |
OMIM:141300 |
22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Abnormal lung lobation, Short philtrum, Gastroesophageal reflux, C... |
ORPHA:567 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula |
OMIM:618658 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth |
OMIM:277950 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Posteriorly rotated ears,... |
ORPHA:2636 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies, Death in in... |
ORPHA:1354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Gastroesophageal reflux, Scoliosis |
OMIM:300434 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Scoliosis, Hypertrophic cardi... |
OMIM:618234 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Thin upper lip vermilion |
OMIM:609384 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Tented upper lip vermilion, Tricuspid regurgitation, Sensori... |
OMIM:618460 |
Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Failure to thrive, Lumbar hyperlordosis, Congenital se... |
ORPHA:96148 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hypospadias, Short neck, External ear malformation, Cryptorchidism, Sensori... |
ORPHA:254346 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis |
ORPHA:505652 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Kyphosis, Sensorineural hearing impairment,... |
ORPHA:314588 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Kyphos... |
ORPHA:79327 |
Marden-Walker Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Narrow mouth, Pyloric ste... |
OMIM:248700 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Prominent median ... |
OMIM:300602 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, High palate, Scoliosis, Long philtrum |
ORPHA:2598 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-set ears |
ORPHA:178148 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Crisponi Syndrome |
|
Death in infancy, Sudden cardiac death, Kyphosis, Narrow mouth, High palate, Scoliosis, Long phil... |
ORPHA:1545 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Hyperlordosis, Respiratory tract infection, Atelectasis, Vasculitis, S... |
ORPHA:365 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Sensorineural hearin... |
OMIM:300661 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Kyphosis, Hydrocephalus, High, narrow palate, Scoliosis |
ORPHA:2181 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Cleft p... |
OMIM:616449 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Hydroureter, Aganglionic megacolon, Abnormal... |
ORPHA:2273 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abnormal pinna morphology, Hypospadias, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Wide... |
OMIM:300354 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Hypospadias, Short ne... |
ORPHA:2311 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy... |
ORPHA:1046 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... |
ORPHA:90041 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Short neck, Cryptorchidism, Kyphosis, Aplasia/H... |
ORPHA:3409 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re... |
OMIM:617666 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia, Cleft palate |
OMIM:243440 |
Zygomycosis |
|
Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Colitis, Nephr... |
ORPHA:73263 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Vesicoureteral reflux, Vertebral fusion, Cleft... |
OMIM:610443 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Renal neop... |
ORPHA:538 |
Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... |
ORPHA:227 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormality of the upper urinar... |
ORPHA:2916 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption of primary teeth, Clef... |
ORPHA:819 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Protruding ear, Downturned corners of mouth, V... |
ORPHA:261318 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Vesicoureteral reflux, Nephropathy, Posterior he... |
ORPHA:116 |
Baralle-Macken Syndrome |
|
Kyphosis, Urinary incontinence, Obesity, High, narrow palate |
OMIM:619255 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric stenosis, Death in c... |
OMIM:613177 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ... |
ORPHA:2522 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:101075 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Dental crowding, Cleft helix, Hamar... |
ORPHA:137888 |
4Q21 Microdeletion Syndrome |
|
Short neck, Abnormality of the dentition, Kyphosis, Downturned corners of mouth, Thin vermilion b... |
ORPHA:238750 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Posteriorly rotated ears, Urinary incontinence, Short neck, Kyphosis, Cleft palate, Dysphagia, Do... |
OMIM:301041 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Sensorineural hearing impairment, Deep philtrum, Gingival overgrowth, Macro... |
OMIM:616455 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Obesity, Cystic renal dysplasia |
OMIM:615989 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusion, Protrud... |
ORPHA:2115 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Ventriculomegaly |
OMIM:230650 |
Fryns Syndrome |
|
Tented upper lip vermilion, Short neck, High palate, Gastroesophageal reflux, Vesicoureteral refl... |
ORPHA:2059 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Cryptorchidism, Kyphosis, Narrow mouth, Short philtrum, Scoliosis, Low... |
ORPHA:352490 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Abnormal lung lobation, Ureteral a... |
OMIM:617667 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hypospadias, Cryptorchidism, Low-set ears, Micropenis, Heari... |
OMIM:617516 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Uplifted earlobe, Cryptorchidism, Kyphosis, Narrow palate, Micropenis, Short upper lip, Short phi... |
ORPHA:364028 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ectopic kidney, Anteverted ears, Deep philtrum, Vesicoureteral reflux, Thickened helices, Micrope... |
OMIM:617641 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Obesity, Scoliosis |
OMIM:618124 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Cryptorchidism, Kyphosis, Ab... |
ORPHA:628 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Kyphosis, Sensorineural hearing impairment, Orofacial cleft, Macrogloss... |
ORPHA:79107 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Non-midline cleft lip, Hydro... |
ORPHA:2075 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Deep philtrum, Kyphosis, Cleft ... |
ORPHA:404440 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
Schaaf-Yang Syndrome |
|
Abnormality of the philtrum, Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Mic... |
OMIM:615547 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Obesity, High palate, Hypoplasia of... |
ORPHA:1035 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:101078 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Cachexia, Abnormality of th... |
ORPHA:1133 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Cryptorchidism, Kyphosis, Dilated cardiomyopathy, Dysphagia, Protruding ear, Wi... |
ORPHA:261250 |
Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Abnormality of the tongue, Cleft palate, Abnormal form of the vertebral bod... |
ORPHA:3098 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s... |
OMIM:610706 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, High palate, Scoliosis |
OMIM:300676 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platysp... |
ORPHA:2655 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Hemivertebrae, High palate, Scoliosis, Low-set ears, Ureteral triplication, Hydron... |
OMIM:104350 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorc... |
OMIM:174300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short neck, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis,... |
OMIM:266920 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short neck, Kyphosis, Downturned corners ... |
ORPHA:2983 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Orofac... |
ORPHA:2322 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Portal hypertension, Ureteral atresia, Stage 5 chron... |
OMIM:208540 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Gingival overgrowth, Protruding ear... |
ORPHA:137834 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Non-midline cleft lip, Abnormal form of the vertebral bodies, Cleft palate, Aplas... |
ORPHA:3429 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge... |
ORPHA:79403 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Atelectasis, Myocarditis, Odynophagia, Oliguria, Subconjunctival hemo... |
ORPHA:319213 |
Branchiootic Syndrome |
|
Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft palate, Atresia of... |
ORPHA:52429 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Dextrocardia |
|
Abnormal EKG, Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abnormal lung lob... |
ORPHA:1666 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Low-set ears, Bifid uvula |
OMIM:616258 |
Whim Syndrome |
|
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... |
ORPHA:51636 |
15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Low-set ears, Sm... |
ORPHA:261190 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidity, Kyphosis, Dilate... |
ORPHA:352447 |
Schinzel-Giedion Syndrome |
|
Short neck, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High ... |
ORPHA:798 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Arrhythmia |
ORPHA:3191 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Narrow palate, Conductive hearing impairment, Narrow i... |
ORPHA:207 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis, Dysphagia, Ventriculomegaly |
OMIM:606612 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... |
ORPHA:2929 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss |
ORPHA:29073 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Ventriculom... |
ORPHA:261349 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the cochlea, Dysphagia, Enuresis nocturna, Wide m... |
ORPHA:251061 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Protruding ear, High palate, Scoliosis, Recurrent lower respiratory tr... |
OMIM:254090 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Wide mouth, Low-set ears, Long philtrum, Polycystic kidney dysplasia, Failu... |
OMIM:608776 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Recurrent upper respiratory tract infections, Thick... |
ORPHA:583 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence, Kyphosis, Sensorineural hearing impairment, Obesity, Downturned corners of ... |
ORPHA:464282 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear ossicles, Short neck, Cr... |
ORPHA:2789 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Cardiomyopathy, Mitral regurgitation, Thick v... |
OMIM:300280 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Kyphosis, Lateral ventricle... |
OMIM:619244 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Downturned cor... |
OMIM:180860 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Posteriorly rotated ears, Dental crowding, Abnormality of t... |
OMIM:130720 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Anterior beaking of lower ... |
OMIM:253220 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:619951 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Uplifted earlobe, Short neck, Ca... |
OMIM:616734 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Narrow m... |
OMIM:618443 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Ab... |
ORPHA:3082 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Repeated pneumothoraces, Intestinal malrotation, Hypospadias, Carious teeth, Cry... |
OMIM:617602 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Short neck, Renal hypoplasia... |
ORPHA:958 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Pulmonary... |
OMIM:616894 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of the kidney, Kyphosis, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Platyspondyl... |
ORPHA:93274 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Ventriculomegaly, Abnormality of the cervical spine, Scoliosis |
ORPHA:48431 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, M... |
ORPHA:158684 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Protruding ear, Down... |
ORPHA:236 |
Stickler Syndrome, Type I |
|
Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-Robin sequence, C... |
OMIM:108300 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d... |
OMIM:212093 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Villous atrophy, Tricuspid regurgita... |
ORPHA:79328 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Malabsorption, Abnormality of the ureter, Vesicoureteral reflux, Cl... |
ORPHA:1225 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Digeorge Syndrome |
|
High, narrow palate, High palate, Short philtrum, Gastroesophageal reflux, Bifid uvula, Atelectas... |
OMIM:188400 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Dental malocclusion, Scoliosis, Abnormality of the dentition |
ORPHA:1858 |
Secondary Intestinal Lymphangiectasia |
|
B-cell lymphoma, Reduced circulating transferrin concentration, Lymphoma, Hypoalbuminemia, Hypoch... |
ORPHA:90363 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Relapsing Polychondritis |
|
Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis,... |
ORPHA:728 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Failure to thrive, Telangiectasia of the skin, Renal hypopl... |
ORPHA:52 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Short neck, Heparan sulfate excretion i... |
OMIM:309900 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis |
OMIM:618484 |
Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Dif... |
ORPHA:333 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Scoliosis, Abnormal palate morphology |
ORPHA:75840 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:618512 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Cupped e... |
OMIM:617190 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Dilated cardiomyopathy... |
OMIM:607155 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, High palate, Broad alveolar ridges, Scoliosis, Low-set ears,... |
OMIM:314580 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Glossopt... |
OMIM:618021 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Failure to thrive |
ORPHA:536516 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Decreased testicular size |
ORPHA:1875 |
Peters Plus Syndrome |
|
Ureteral duplication, Short neck, Abnormal pulmonary vein morphology, Widely spaced teeth, Conduc... |
ORPHA:709 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Cryptorchidism, Sensorineural hearing impairment, Kyphosis, Obesity, Decreased tes... |
ORPHA:3085 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Failure to thrive, Hyperlordosis, Kyphosis, Narrow mouth, Conge... |
ORPHA:354 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the odontoid process, Kyphos... |
OMIM:253010 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... |
OMIM:602535 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-mid... |
ORPHA:1770 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Hypomelanosis Of Ito |
|
Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis |
OMIM:300337 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Short neck, Open bite, Kyphosis, Thick lower lip vermilion, Abnorm... |
ORPHA:85293 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Saethre-Chotzen Syndrome |
|
Hyperlordosis, Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural ... |
ORPHA:794 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Abnormal pinna morphology, Kyphosis, Subdural hemorrhage, Lateral ventricle dilata... |
OMIM:618291 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Death in early adulthood, Abnormal dental morphology, Kyphosis, Sensor... |
ORPHA:192 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Tricuspid regurgitation, Dental crowding, Spinal rigidity, Kyphosis, Normal p... |
OMIM:620351 |
Alg12-Cdg |
|
Hyponatremia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Kyphosis, Gingival overgrowth, Recurrent otitis media, Failure to t... |
OMIM:169400 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Kyphosis, Abnormality o... |
ORPHA:702 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Widely-spaced incisors |
ORPHA:79414 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Short neck, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Gingiva... |
OMIM:230500 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:255200 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short lingual frenulum, Renal agenesis, Bilateral cryptorchidism, Midgut ma... |
ORPHA:2326 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Kyphosis, Protruding ear, Abnormal antihelix morphology, Macroglossia... |
ORPHA:261144 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Short neck, Heparan sulfate excretion in ... |
OMIM:607014 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners ... |
ORPHA:1507 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Short neck, Hemivertebrae, Protruding ear, Anterior... |
OMIM:261540 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Kyphosis, High, narrow palate, ... |
ORPHA:464738 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Widely-spaced maxillary central incisors, Gastroesophageal reflux, Micropenis, Hyp... |
OMIM:301040 |
Esophageal Atresia |
|
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, Gastroesopha... |
ORPHA:1199 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Heart block, Anteriorly placed anus, Vertebral segmentation defect, High pala... |
OMIM:617063 |
Flynn-Aird Syndrome |
|
Cachexia, Carious teeth, Kyphosis, Scoliosis, Progressive sensorineural hearing impairment |
ORPHA:2047 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Urinary incontinence, Scoliosis, Hearing impairment |
OMIM:614409 |
Alstrom Syndrome |
|
Renal insufficiency, Abnormality of the dentition, Kyphosis, Congestive heart failure, Recurrent ... |
OMIM:203800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis, Hearing impairment |
ORPHA:99014 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis, Hearing impairment |
OMIM:610743 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... |
ORPHA:582 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High, narro... |
OMIM:619745 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Volvulus, ... |
OMIM:115470 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis |
OMIM:112350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis, Protruding ear |
OMIM:300861 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis... |
OMIM:162300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Congestive heart failure, Hydrocephalus, Pl... |
OMIM:616482 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Glossoptosis, High palate, Conductive hearing impairment, Abnormal dental mo... |
ORPHA:861 |
Schwartz-Jampel Syndrome |
|
Short neck, High palate, Decreased body weight, Low-set, posteriorly rotated ears, Pursed lips, A... |
ORPHA:800 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Kyphosis, Dysphagia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:98855 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis, Death in childhood, Failure to... |
OMIM:618278 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ... |
ORPHA:98863 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Hydrocephalus, A... |
ORPHA:87 |
Cowden Syndrome 5 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... |
OMIM:615108 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, High palate, Scoliosis, Protruding ear |
OMIM:108145 |
Ruvalcaba Syndrome |
|
Dental crowding, Cryptorchidism, Kyphosis, Abnormal localization of kidney, Hematuria, Thin vermi... |
ORPHA:3121 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:98853 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Sialidosis Type 2 |
|
Kyphosis, Nephropathy, Hearing impairment |
ORPHA:87876 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Heparan sulfate excretion in urine, Kypho... |
OMIM:607015 |
Fountain Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Thick lower lip vermilion, Gingival overgrowth, Abnor... |
ORPHA:3219 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Kyphosis, Dilated third ventricle, Hydrocephalus, Gastroesophageal re... |
ORPHA:500055 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Cervical spinal canal steno... |
ORPHA:15 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Rett Syndrome |
|
Cachexia, Abnormality of the dentition, Kyphosis, Gastroesophageal reflux, Scoliosis, Abnormal T-... |
OMIM:312750 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Kyphosis, Sensorineural hearing impairment, Thi... |
ORPHA:812 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... |
OMIM:615067 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, High, narrow palate,... |
OMIM:177850 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Recurrent respiratory infections, Tongue atrophy, Kyphosis, Sensorineural hearing impairment, Dys... |
OMIM:211530 |
Gorham-Stout Disease |
|
Pleural effusion, Abnormality of the cervical spine, Abnormality of the internal auditory canal, ... |
ORPHA:73 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Short neck, Large ... |
ORPHA:77301 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Atresia of th... |
ORPHA:2306 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Small for gestational age, Hypospadias, Unilateral renal agenesis, Cryptorc... |
ORPHA:464311 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Bidirectiona... |
OMIM:619351 |
Cowden Syndrome 6 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... |
OMIM:615109 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Kyphosis, Abnormal locali... |
ORPHA:2510 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Failure to thrive, Small for gestational age, Hypospadias, Unilateral renal... |
ORPHA:464306 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Aplasia... |
ORPHA:1860 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anteriorly placed anus, Oligodontia, Spina bifida occulta, Cleft upper lip,... |
OMIM:305600 |
Hajdu-Cheney Syndrome |
|
Short neck, Downturned corners of mouth, Periodontitis, Hypospadias, Open bite, Multiple renal cy... |
ORPHA:955 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palate... |
OMIM:617140 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis, Dysphagia |
OMIM:617435 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Telangiectasia of the skin, Cryptorchidism, Sensorineural hearing impairment, Ky... |
OMIM:615381 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Gastroesophageal reflux, Conductive hearing impairm... |
ORPHA:821 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Ventriculomegaly, Dysphagia |
ORPHA:500180 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Hypocholesterolemia |
OMIM:223370 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Abnormality of the d... |
ORPHA:193 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Thin upper lip vermilion, Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, High, n... |
OMIM:300966 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow mouth, Microglossia, Narrow internal auditory canal, Sy... |
ORPHA:990 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Hyperlordosis, Persistence of primary teeth, Kyphosis, Abnorma... |
ORPHA:763 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n... |
ORPHA:2616 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Dental crowding, Scoliosis |
OMIM:180870 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Inflammation of... |
OMIM:619708 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum, Chronic otiti... |
ORPHA:280 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Proteinuria, Pneumonia, Raynaud... |
ORPHA:1855 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Oral melanotic macule, Hamar... |
OMIM:175200 |
Cockayne Syndrome Type 2 |
|
Delayed eruption of primary teeth, Cryptorchidism, Kyphosis, Widely spaced primary teeth, Scolios... |
ORPHA:90322 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Non-midline cleft lip, Tracheoesophageal fistula, Cle... |
ORPHA:1848 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Short neck, Renal hypoplasia/aplasia, Cryptorchidism, ... |
ORPHA:2911 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal lung lobation, Abnormal form of the vertebral bodies, G... |
ORPHA:818 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Protruding ear, Scoliosis, Low-set ears, Triangular mouth, Failure to thrive, Dandy-Wal... |
OMIM:617988 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Dental crowding, Kyphosis, Abnormal ... |
ORPHA:79329 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Cleft palate, Scoliosis, Low-set ears, ... |
ORPHA:140 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Death in childhood, Neonatal... |
OMIM:609313 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Absence of the sacrum, Bilateral trilobed lung, Ureteral duplication,... |
OMIM:270100 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Tented upper lip vermilion, Posteriorly rotated ears, Kyphosis, Dysphagia, High... |
OMIM:617527 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Kyphosis, Sensorineural hearing impairment, Scoliosis |
ORPHA:1883 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, High, narrow palate, Duplication of renal pelvis, Long philtrum, Macrotia |
ORPHA:457212 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Hypospadias, Thoracolumbar scoliosis, Short neck, Crypt... |
OMIM:265000 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Decreased heart rate variability, Cryptorchidism, Kyphosis, High palate, Thick v... |
OMIM:619005 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Posteriorly rotated ears, Exaggerated cupid's bow, Cryptorchidism, Kyphosis, Narrow mouth, Cleft ... |
ORPHA:2215 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Ventriculomegaly, Tented upper lip vermilion, Kyphosis, Sensor... |
ORPHA:521426 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Abnormality of the dentit... |
ORPHA:1798 |
Mend Syndrome |
|
Sacral dimple, Crossed fused renal ectopia, Posteriorly rotated ears, Dandy-Walker malformation, ... |
OMIM:300960 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis, Narrow mouth, Smooth phil... |
OMIM:251450 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hy... |
ORPHA:564 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Pleural effusion |
OMIM:306400 |
X-Linked Intellectual Disability, Snyder Type |
|
Dental crowding, Hypospadias, Asymmetry of the ears, Kyphoscoliosis, Ectopic kidney, Cryptorchidi... |
ORPHA:3063 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis, Hydrocephalus, Mitral regurgitation, Ventriculomegaly |
OMIM:603387 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ... |
OMIM:259420 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Large for gestational age, Sensorineural hearing impairment, Renal cyst, Protr... |
OMIM:617107 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Restrictive Dermopathy 1 |
|
Natal tooth, Ureteral duplication, Hypospadias, Kyphoscoliosis, Submucous cleft hard palate, Stil... |
OMIM:275210 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Death in infancy, Renal malrotation, Dilatation of the renal pelvis, Cleft ... |
OMIM:274000 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Protruding ear, High palate, Short philtrum, Scoliosi... |
ORPHA:2479 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Abnormality of the kidney, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal st... |
ORPHA:1724 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cleft palate, Rec... |
OMIM:603116 |
Fucosidosis |
|
Abnormality of the dentition, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebr... |
ORPHA:349 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Rectal prolapse, Abnormal form of the vertebral bodie... |
ORPHA:904 |
Cowden Syndrome 1 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... |
OMIM:158350 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Posteriorly rotated ears, Hyperlordosis, Large for gestational age, ... |
OMIM:617011 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, High palate, Scoliosis |
ORPHA:171436 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, V... |
ORPHA:251014 |
Alexander Disease |
|
Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocephalus, Dy... |
ORPHA:58 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Cryptorchidism, Kyphosis, Xerostomia,... |
ORPHA:398069 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Kyphosis, Cleft palat... |
ORPHA:85199 |
Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Asymmetry of the mouth, Cryptorchidism, Kypho... |
ORPHA:401973 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Acrorenal-Mandibular Syndrome |
|
Posteriorly rotated ears, Renal agenesis, Kyphoscoliosis, Hemivertebrae, Abnormality of the urete... |
OMIM:200980 |
Stickler Syndrome |
|
Abnormal form of the vertebral bodies, Glossoptosis, Gastroesophageal reflux, Chronic otitis medi... |
ORPHA:828 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Narrow palate, Cleft palate, Low-set ... |
OMIM:618223 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Oligodontia, Hearing impairment |
ORPHA:324737 |
Atelis Syndrome 2 |
|
Sacral dimple, Diastema, Kyphosis, Thick lower lip vermilion, Protruding ear, Downturned corners ... |
OMIM:620185 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Abnormality of the dentition, Kyphosis, Eruption failure, ... |
ORPHA:476126 |
Coffin-Lowry Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Rectal prolapse, Thick lower lip vermilion, Dental ma... |
OMIM:303600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Cleft lip, Kyphosis, Cleft palate, Protruding ear, Pulmonic stenosis |
OMIM:619123 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Kyphosis, Abnormal antiheli... |
ORPHA:1005 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Hydrocephalus, Platyspondyly, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Duane Retraction Syndrome |
|
Short neck, External ear malformation, Ectopic kidney, Sensorineural hearing impairment, Anorecta... |
ORPHA:233 |
Atypical Rett Syndrome |
|
Functional abnormality of the gastrointestinal tract, Kyphosis, Scoliosis |
ORPHA:3095 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ear... |
ORPHA:3339 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Sensorineural hearing... |
ORPHA:500095 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fetal pyelectasis, Protruding ear, Vesicoureteral reflux, Renal duplication, Abnormal dental morp... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Fetal pyelectasis, Protruding ear, Vesicoureteral reflux, Renal duplication, Abnormal dental morp... |
ORPHA:363958 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Pulmonary artery stenosis, Pulmonic stenosis, Glyco... |
OMIM:600001 |
Meckel Syndrome, Type 1 |
|
Short neck, Lobulated tongue, Dandy-Walker malformation, Cleft upper lip, Cryptorchidism, Low-set... |
OMIM:249000 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Kyphosis, Cleft palate, Glossoptosis, Atresia of ... |
ORPHA:1393 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Vertebral clefting, Submucous cleft hard palate, Cleft palate, Duodenal atresia... |
OMIM:301043 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Aort... |
ORPHA:210122 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormality of the kidney, Abnormal stomach morphology, Abnormal lung morpho... |
ORPHA:141127 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Wide mouth, Ab... |
ORPHA:2062 |
Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentra... |
OMIM:270400 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Lumbar ... |
OMIM:143095 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth, Short philtr... |
OMIM:194190 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Kyphosis, Sensorineural hearing impairment, Hypercalciur... |
OMIM:239000 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... |
OMIM:157800 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, High, ... |
ORPHA:2658 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft... |
ORPHA:268261 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Nephrolithiasis, Hypertension, Abdominal obesity, Biconcave vertebral bodies, ... |
OMIM:219090 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Hydrocephalus, ... |
OMIM:618476 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Gastroesophageal reflux, C... |
ORPHA:2044 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard pal... |
ORPHA:1662 |
Ramon Syndrome |
|
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Telangiectasia, Scolio... |
OMIM:266270 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
OMIM:248800 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... |
ORPHA:392 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscolio... |
ORPHA:457359 |
Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evok... |
OMIM:133540 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Kyphos... |
ORPHA:2050 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Kyphosis, Narrow mouth, High palate, Scoliosi... |
OMIM:618050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Sacroiliac arthritis, Inflammation of the large intest... |
OMIM:106300 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Obesity, A... |
ORPHA:1435 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Diastema, Cryptorchidism, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosi... |
OMIM:619718 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Kyphosis, Esophageal varix, Int... |
ORPHA:394 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Abnormal... |
ORPHA:1606 |
Gaucher Disease Type 1 |
|
Proteinuria, Kyphosis, Abnormal pulmonary interstitial morphology, Hematuria, Gingival bleeding, ... |
ORPHA:77259 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
Early Infantile Epileptic Encephalopathy |
|
Cleft palate, Ureterocele, Micropenis, Failure to thrive, Renal dysplasia |
ORPHA:1934 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Abnormal form of the vertebral bodies, Abnormal d... |
ORPHA:666 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Recurrent respiratory infections, Failure to thrive in infancy, Carious... |
OMIM:176270 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidism, Kyphosis, Tooth ma... |
ORPHA:536532 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Kyphosis, Protruding ear, Downturned corners of mouth, Scoliosis, Absen... |
OMIM:619557 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Kyphosis, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the kidney, Kyphosis, Furrowed tongue, Hamartomatous po... |
ORPHA:201 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Arthrogryposis, Distal, Type 4 |
|
Hypoplastic helices, Kyphosis, Scoliosis, Lumbar scoliosis |
OMIM:609128 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta, Hear... |
OMIM:166220 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Protruding ear, Abnormal curvature of the vertebral column, Short... |
OMIM:619475 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cryptorchidism, K... |
OMIM:300967 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Agenesis of canine, Orofacial cleft, Ureteral agenesis, Duplication of... |
ORPHA:141099 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Kyphosis, Sensorineural hearing impairment, High palate, Short philtrum |
OMIM:609944 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Pyloric stenosis, Hydrocephalus, Bifid ureter |
ORPHA:1571 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Scoliosis, Low-set ears, Failure to thrive |
ORPHA:420794 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Aplasia of the inner ear, M... |
ORPHA:90024 |
Weismann-Netter Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Cockayne Syndrome A |
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Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:216400 |
Familial Osteodysplasia, Anderson Type |
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Carious teeth, Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Larg... |
ORPHA:2769 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Kyphosis, Recurrent pneumonia, Obesity, Thick vermilion border, Scoliosis |
OMIM:618493 |
Bruck Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Kyphosis, Hydrocephalus, High, narrow palate, Hypertension, High palate |
OMIM:616914 |
Becker Nevus Syndrome |
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Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Marfan Syndrome |
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Spontaneous pneumothorax, Dental crowding, Cachexia, Open bite, Kyphosis, High, narrow palate, Em... |
ORPHA:558 |
Mucolipidosis Type Ii |
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Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... |
ORPHA:576 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Small for gestational age, Intestinal malrotation, Pulmonary artery stenosi... |
ORPHA:2255 |
Dystonia 1, Torsion, Autosomal Dominant |
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Kyphosis, Dysphagia, Scoliosis, Hyperlordosis |
OMIM:128100 |
Frank-Ter Haar Syndrome |
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Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Den... |
OMIM:249420 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abno... |
ORPHA:3042 |
Postencephalitic Parkinsonism |
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Kyphosis, Open mouth, Camptocormia, Dysphagia |
ORPHA:97349 |
Hereditary Orotic Aciduria |
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Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Ab... |
ORPHA:30 |
Pseudoachondroplasia |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Cleidocranial Dysplasia 1 |
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Hearing impairment, Delayed eruption of primary teeth, Kyphosis, High, narrow palate, Supernumera... |
OMIM:119600 |
Scapuloperoneal Spinal Muscular Atrophy |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Lymphedema-Distichiasis Syndrome |
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Cleft upper lip, Kyphosis, Cleft palate, Chylothorax, Arrhythmia |
OMIM:153400 |
Weaver Syndrome |
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Cryptorchidism, Kyphosis, Hydrocele testis, Lateral ventricle dilatation, Scoliosis, Long philtru... |
OMIM:277590 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Kyphosis, Scoliosis, Dysphagia |
OMIM:617143 |
Peroxisome Biogenesis Disorder 4B |
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Sensorineural hearing impairment, Ureterocele |
OMIM:614863 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Pyloric stenosis, Bifid ureter, Spina bifida occulta, Hydronephrosi... |
OMIM:267750 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Small intestinal dysmotility, Urinary incontinence, Kyphosis, Dysphagia, Sinus bradycardia, Gastr... |
OMIM:619482 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis |
OMIM:617821 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Kyphosis, Hypertension, Truncal obesity |
OMIM:219080 |
Pontocerebellar Hypoplasia, Type 17 |
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Kyphosis, Gastroesophageal reflux, Dysphagia |
OMIM:619909 |
Triosephosphate Isomerase Deficiency |
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Death in infancy, Kyphosis, Congestive heart failure, Death in adolescence, Failure to thrive |
OMIM:615512 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Kyphosis, Hypertension, Truncal obesity |
OMIM:610475 |
Idiopathic Juvenile Osteoporosis |
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Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Cockayne Syndrome |
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Urinary incontinence, Gastroesophageal reflux, Abnormal dental morphology, Cryptorchidism, Renal ... |
ORPHA:191 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Kyphosis, Hypertension, Truncal obesity |
OMIM:610489 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... |
OMIM:619472 |
Occipital Horn Syndrome |
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Orthostatic hypotension, Hiatus hernia, Kyphosis, Hydronephrosis, Bladder diverticulum, Platyspon... |
OMIM:304150 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Kyphosis, Cachexia, Short hard palate, Scoliosis |
ORPHA:1969 |
Rett Syndrome, Congenital Variant |
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Thin upper lip vermilion, Kyphosis, Protruding ear, Gastroesophageal reflux, Scoliosis |
OMIM:613454 |
Shprintzen Omphalocele Syndrome |
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Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight, Anal atr... |
OMIM:182210 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Camurati-Engelmann Disease |
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Delayed eruption of teeth, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Abnormality of the v... |
ORPHA:1328 |
Branchiooculofacial Syndrome |
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Short neck, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Hypoplastic super... |
OMIM:113620 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Kyphosis, Gastrointestinal dysmotility, Scoliosis |
ORPHA:88628 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Kyphosis, Bicarbonaturia, Proximal renal ... |
OMIM:309000 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... |
OMIM:203500 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99413 |
Turner Syndrome |
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Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:881 |
Mosaic Monosomy X |
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Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99228 |
Monosomy X |
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Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99226 |
Autosomal Recessive Ataxia, Beauce Type |
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Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:88644 |
Dyggve-Melchior-Clausen Disease |
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Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Kyphosis, Scoliosis |
OMIM:609541 |
Spondyloperipheral Dysplasia |
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Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... |
OMIM:271700 |
Aspartylglucosaminuria |
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Recurrent respiratory infections, Aspartylglucosaminuria, Kyphosis, Thick lower lip vermilion, Wi... |
OMIM:208400 |
Proteus Syndrome |
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Abnormal dental enamel morphology, Testicular neoplasm, Sudden cardiac death, Carious teeth, Kyph... |
ORPHA:744 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Sensorineural hearing impairment, Ileus, Arrhythmia, Microcolon |
ORPHA:163746 |
Acromegaly |
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Dysuria, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Wide penis, Spinal ca... |
ORPHA:963 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Widely spaced teeth |
OMIM:300942 |
Occipital Horn Syndrome |
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Recurrent urinary tract infections, Hiatus hernia, Kyphosis, High, narrow palate, Dysphagia, Blad... |
ORPHA:198 |
Yunis-Varon Syndrome |
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Anterior concavity of thoracic vertebrae, Protruding ear, Short philtrum, High palate, Aspiration... |
OMIM:216340 |
Tick-Borne Encephalitis |
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Back pain, Vertigo, Tongue fasciculations, Dysphagia, Tinnitus, Abnormality of the vestibular ner... |
ORPHA:297 |
Somatomammotropinoma |
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Dysuria, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Spinal canal stenosis... |
ORPHA:314769 |
Norrie Disease |
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Failure to thrive, Cachexia, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Ab... |
ORPHA:649 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta |
OMIM:610915 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Carious teeth, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-s... |
OMIM:278250 |
Neurofibromatosis Type 1 |
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Abnormality of the upper urinary tract, Cryptorchidism, Kyphosis, Hearing abnormality, Hydrocepha... |
ORPHA:636 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Non-obstructive azoospermia, Cryptorchidism, Kyph... |
ORPHA:2232 |
Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Functional abnormality of ... |
ORPHA:64 |
Primrose Syndrome |
|
Calcification of the auricular cartilage, Bilateral cryptorchidism, Cryptorchidism, Kyphosis, Thi... |
OMIM:259050 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Kyphosis, Abnormal lung morphology, Re... |
ORPHA:97685 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna |
ORPHA:171629 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |