Diabetic Embryopathy |
|
Hearing impairment, Cryptorchidism, Ventricular septal defect, Tetralogy of Fallot, Low-set, post... |
ORPHA:1926 |
Carpenter Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg... |
OMIM:201000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defe... |
ORPHA:508498 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial... |
OMIM:306955 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, 11 pair... |
OMIM:617877 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At... |
OMIM:618316 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Low-set ears, Ventricular septal defect, Low posterior hairline, Atrial se... |
OMIM:220210 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Protein-losing enteropathy, Decreased liver function, Ascites, Decreased circulatin... |
OMIM:608104 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... |
OMIM:301056 |
Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Tetralogy of Fallot, Clinodactyl... |
OMIM:179613 |
Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Facial hypertrichosis, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Fro... |
OMIM:180849 |
Primary Ciliary Dyskinesia |
|
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Rod... |
ORPHA:244 |
Fetal Trimethadione Syndrome |
|
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Ventricular septal defect, Transpos... |
ORPHA:1913 |
8P23.1 Microdeletion Syndrome |
|
Low-set ears, Broad thumb, Cryptorchidism, Congenital diaphragmatic hernia, Short neck, High pala... |
ORPHA:251071 |
Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Cryptorchidism, Short neck, Anal atresia, Short foo... |
ORPHA:709 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Neonatal death, Dextrocardia, Absent radius, Anal atresia, Urethra... |
OMIM:314390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Retinal dyspl... |
OMIM:253800 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... |
ORPHA:268882 |
Genitopalatocardiac Syndrome |
|
Low-set ears, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... |
OMIM:231060 |
Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... |
OMIM:620662 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... |
ORPHA:261243 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Clinodactyly, Cryptorchidism, Patent foramen ovale, Short neck, Coloboma, Transposi... |
OMIM:616789 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Chiari malformation, Generalized arterial to... |
OMIM:610168 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th... |
ORPHA:1727 |
Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Cr... |
ORPHA:79324 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation,... |
OMIM:210710 |
Sotos Syndrome |
|
Low-set ears, Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Long phal... |
OMIM:117550 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cholestas... |
OMIM:619503 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Low-set ears, Broad thumb, Ventricular septal defect, Achalasia, Atrial septal defect, Short 5th ... |
OMIM:600987 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal... |
OMIM:601808 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Low-set ears, Pectus carinatum, Toe clinodactyly, Secundum atrial septal defect, Aortic root aneu... |
OMIM:619910 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorc... |
OMIM:312870 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing... |
ORPHA:672 |
Loeys-Dietz Syndrome 1 |
|
Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Chiari malformation, Mitral va... |
OMIM:609192 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... |
ORPHA:138 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Anomalous origin of left coronary artery from ... |
OMIM:618845 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s... |
OMIM:280000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Atri... |
ORPHA:371428 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Sparse eyebrow, Gastroesophageal reflux, Multiple muscular ventricu... |
OMIM:620070 |
Chromosome 9P Deletion Syndrome |
|
Low-set ears, Ventricular septal defect, Short neck, Atrial septal defect, High palate, Hypospadi... |
OMIM:158170 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t... |
OMIM:618164 |
Snijders Blok-Campeau Syndrome |
|
Low-set ears, Umbilical hernia, Inguinal hernia, Perimembranous ventricular septal defect, Atrial... |
OMIM:618205 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Cryptorchidis... |
OMIM:146510 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Sandal gap, Abnormal heart morphology, Decreased nerve conduction velocity, Fo... |
ORPHA:477817 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Branchial cyst, Atresia of the external au... |
OMIM:620186 |
Charge Syndrome |
|
Low-set ears, Lymphopenia, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impai... |
OMIM:214800 |
Benign Schwannoma |
|
Peripheral schwannoma, Vertigo, Schwannoma, Abnormality of the liver, Abnormal cranial nerve morp... |
ORPHA:252164 |
Ogden Syndrome |
|
Low-set ears, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Pulmonary edema,... |
OMIM:300855 |
Weiss-Kruszka Syndrome |
|
Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, De... |
OMIM:618619 |
Trisomy 13 |
|
Low-set ears, Abnormal helix morphology, Chiari malformation, Abnormality of the ureter, Abnormal... |
ORPHA:3378 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cry... |
OMIM:256520 |
Ververi-Brady Syndrome |
|
Low-set ears, Metaphyseal irregularity, Cupped ear, Transposition of the great arteries, Single u... |
OMIM:617982 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Hearing impairment, Finger syndactyly, Single ventricle, 2-5 finger syndact... |
OMIM:308050 |
Restrictive Dermopathy |
|
Thin ribs, Low-set ears, Increased anterioposterior diameter of thorax, Large placenta, Atrial se... |
ORPHA:1662 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Cryptorchidism, Protrudi... |
ORPHA:3304 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct... |
ORPHA:96334 |
Mosaic Trisomy 16 |
|
Short forearm, Hearing impairment, Clinodactyly, Large placenta, Ventricular septal defect, Singl... |
ORPHA:1708 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, High anterior hairline, Hearing impairment, Velopharyngeal insufficien... |
ORPHA:363444 |
3C Syndrome |
|
Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Abnormal mitral v... |
ORPHA:7 |
Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... |
ORPHA:96148 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2255 |
Sandestig-Stefanova Syndrome |
|
Low-set ears, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Muscular ventricular se... |
OMIM:618804 |
Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Ventric... |
OMIM:157800 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... |
ORPHA:226307 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Abnormal c... |
ORPHA:2345 |
Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Chiari malformation, Clinodact... |
OMIM:249000 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malr... |
OMIM:619657 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Congenital diaphragmatic hernia, Ventricular se... |
ORPHA:1780 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... |
ORPHA:1900 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
Halperin-Birk Syndrome |
|
Optic atrophy, Gastroesophageal reflux, Semilobar holoprosencephaly, Hearing impairment, Umbilica... |
OMIM:618651 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Congenital shortened small intestine, Chiari malformation, Ventricular septal defec... |
OMIM:265380 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Low-set ears, Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Oligohydramnios, Cryp... |
ORPHA:397590 |
Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... |
OMIM:215140 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Cyclopia, Anal atresia, Thyroid hypoplasia, Holoprosencephaly, Hyp... |
ORPHA:2166 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Recurrent otitis media, Dextrotransposition of the great arteries, ... |
OMIM:619995 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, A... |
ORPHA:1120 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Ventricular septal defect, Sensori... |
OMIM:301040 |
Treacher-Collins Syndrome |
|
Abnormal hair morphology, Encephalocele, Cryptorchidism, Absent eyelashes, Abnormality of the mid... |
ORPHA:861 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... |
OMIM:619170 |
Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Ductus ... |
OMIM:620642 |
Monosomy 18Q |
|
Aortic valve stenosis, Bilateral conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1600 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ... |
OMIM:142900 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Unilateral renal agenesis, Hypertrichosis, Muscular ventricular septal defect, Butt... |
OMIM:619227 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... |
OMIM:190685 |
Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... |
ORPHA:2876 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Dysplastic corpus cal... |
OMIM:620135 |
Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Short neck, High... |
OMIM:208150 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... |
ORPHA:2970 |
Carpenter Syndrome 2 |
|
Low-set ears, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Sen... |
OMIM:614976 |
Noonan Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairli... |
ORPHA:648 |
Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans... |
ORPHA:66634 |
7Q31 Microdeletion Syndrome |
|
Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Skeletal muscle atrophy, ... |
ORPHA:251061 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog... |
ORPHA:3097 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Precocious puberty, Hypoplasia of the pons, Anteriorly placed anus... |
ORPHA:280195 |
Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Chiari malformation, Hearing impairment, Recurrent otitis me... |
ORPHA:96170 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly, Small placenta, Congenital sensorineur... |
ORPHA:73272 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Overlapping fingers, Protruding tongue, Sensorineural hearing impairment, Short nec... |
OMIM:608779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Congenital diaphragmatic hernia, Sh... |
ORPHA:2311 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Atrial septal defect, High... |
OMIM:618354 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ... |
OMIM:618254 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Low-set ears, High anterior hairline, Bifid uvula, Submucous cleft of sof... |
OMIM:301022 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Abnor... |
ORPHA:439167 |
Birk-Aharoni Syndrome |
|
Hearing impairment, Muscular ventricular septal defect, Thick eyebrow, Cryptorchidism, Macrocytic... |
OMIM:620071 |
Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, ... |
OMIM:609029 |
Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... |
ORPHA:3426 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
Trichohepatoenteric Syndrome 1 |
|
Low-set ears, Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Brittle hair, He... |
OMIM:222470 |
Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
Viss Syndrome |
|
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... |
OMIM:619472 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Sensorineural hearing impairment, Bi... |
OMIM:612474 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
Chime Syndrome |
|
Aplastic clavicle, Abnormality of the outer ear, Acute leukemia, Aplasia/Hypoplasia of the phalan... |
ORPHA:3474 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Short neck, Sprengel anomaly, Aplasia of the thymus, Atrial septal defect, Hypopara... |
OMIM:618223 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Agenesis of corpus... |
ORPHA:2059 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Hearing impairment, Hypoplasia of the pons, Overlapping toe, Cryptorchidis... |
ORPHA:163956 |
Giant Cell Arteritis |
|
Optic atrophy, Vasculitis, Alopecia, Conductive hearing impairment, Aortic dissection, Double out... |
ORPHA:397 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Premature birth, Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Abnor... |
ORPHA:3268 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn... |
OMIM:192350 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Clinodactyly o... |
ORPHA:3047 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma... |
OMIM:614886 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:270100 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Sensorin... |
OMIM:300166 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Apert Syndrome |
|
Optic atrophy, Bifid uvula, Toe syndactyly, Conductive hearing impairment, Chiari malformation, F... |
ORPHA:87 |
Phace Syndrome |
|
Retinal vascular malformation, Iris coloboma, Ectopic thyroid, Aortic root aneurysm, Abnormal ste... |
ORPHA:42775 |
Renpenning Syndrome |
|
High, narrow palate, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atro... |
ORPHA:3242 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnormal aortic morphol... |
ORPHA:1166 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma... |
ORPHA:1354 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Hearing impairment, Sandal gap, Decreased nerve conduction velocity, Ventri... |
OMIM:616652 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Multiple muscular ventricular septal defects, Sensorineural hearing impairment, A... |
ORPHA:391641 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Neoplasm, Abnormal glossopharyn... |
ORPHA:221098 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Low-set ears, Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Sparse eyelashes, ... |
OMIM:612863 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Holoprosencephaly 13, X-Linked |
|
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Ventricular s... |
OMIM:301043 |
Wrinkly Skin Syndrome |
|
Low-set ears, Sparse hair, Hypoplasia of the musculature, Short nail, Premature rupture of membra... |
OMIM:278250 |
Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Short ... |
OMIM:269860 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P... |
ORPHA:99095 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Frank-Ter Haar Syndrome |
|
Low-set ears, Anterior concavity of thoracic vertebrae, Mitral valve prolapse, Ventricular septal... |
OMIM:249420 |
Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Aortic valve stenosis, Absent gallbladder, Ventricular septal defe... |
ORPHA:210122 |
Degcags Syndrome |
|
Chronic kidney disease, Low-set ears, Toe syndactyly, Hearing impairment, Oral-pharyngeal dysphag... |
OMIM:619488 |
22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Shor... |
ORPHA:567 |
Trisomy 1Q |
|
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Cryptor... |
ORPHA:261344 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, High anterior hairline, Muscular ventricular septal defect, Brachydactyly, Adducted... |
OMIM:620062 |
Holoprosencephaly |
|
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Abnormal antihelix morphology, ... |
ORPHA:2162 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Hepato... |
ORPHA:175 |
Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... |
ORPHA:392 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, Ed... |
ORPHA:90673 |
Alg3-Cdg |
|
Hearing impairment, Cardiomyopathy, Decreased liver function, Abnormal uvula morphology, Hypoplas... |
ORPHA:79321 |
Doors Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Adrenal hyperplasia, ... |
ORPHA:79500 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Subchorionic septal cyst, Chiari malformation, Hearing impairment, Abnormal earlobe ... |
ORPHA:116 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd... |
ORPHA:2308 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... |
ORPHA:217085 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Facial edema, Abnormal epiphysis mo... |
ORPHA:90674 |
Robinow Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Ventricular septal def... |
ORPHA:97360 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Congeni... |
ORPHA:887 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
Frontonasal Dysplasia 1 |
|
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm... |
OMIM:136760 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Vertebrobasilar dolichoectasia, Nephrolithiasis, Retinal detachment, L... |
ORPHA:521445 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... |
ORPHA:79345 |
Proteus Syndrome |
|
Venous malformation, Splenomegaly, Kyphoscoliosis, Hemangioma, Multiple lipomas, Lipoma, Spinal c... |
OMIM:176920 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... |
ORPHA:217093 |
Mungan Syndrome |
|
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Abnormality of the autonomic ... |
OMIM:611376 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... |
ORPHA:1457 |
Noonan Syndrome 12 |
|
Chiari malformation, Glabellar hemangioma, Anteriorly placed anus, Tetralogy of Fallot, Decreased... |
OMIM:618624 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... |
ORPHA:3427 |
Ciliary Dyskinesia, Primary, 37 |
|
Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocard... |
OMIM:617577 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Cryptorchidism, Mitral valve... |
OMIM:182212 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnorma... |
ORPHA:52 |
Fumarase Deficiency |
|
Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Cutaneous leiomyoma, Intrahepati... |
OMIM:606812 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Sparse scalp hair, Hearing im... |
ORPHA:536471 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Low-set ears, Hearing impairment, Finger syndactyly, Cryptorchidism, Abnormal gastrointestinal tr... |
ORPHA:2990 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair... |
OMIM:253010 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepati... |
ORPHA:1667 |
Restrictive Dermopathy 1 |
|
Low-set ears, Increased anterioposterior diameter of thorax, Sparse eyelashes, Absent eyelashes, ... |
OMIM:275210 |
Congenital Syphilis |
|
Pneumonia, Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, L... |
ORPHA:499009 |
Phace Association |
|
Optic atrophy, Cavernous hemangioma of the face, Arterial stenosis, Congenital hypothyroidism, Ve... |
OMIM:606519 |
Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Sensorineural hearing impairment, Hepatomegaly, Abnormal heart ... |
ORPHA:580 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma... |
ORPHA:97290 |
Distal Deletion 15Q |
|
Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Genu valgum, Cryptorc... |
ORPHA:1596 |
Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Facial capillary hem... |
ORPHA:818 |
Trisomy 8P |
|
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ... |
ORPHA:264450 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Highly arched eyebrow, Sandal gap, Tetralogy of Fallot, Nail dystrophy, ... |
OMIM:300887 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripher... |
OMIM:156530 |
Toriello-Carey Syndrome |
|
Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Agenesis of corpus callosum, Shor... |
ORPHA:3338 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Facial edema, Abnormal epiphysis morpho... |
ORPHA:95716 |
Mucopolysaccharidosis Type 3 |
|
Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Abnor... |
ORPHA:581 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Low-set ears, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospa... |
ORPHA:276422 |
De Barsy Syndrome |
|
Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Ventricular septal... |
ORPHA:2962 |
Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Ventricular se... |
OMIM:617022 |
Osteogenesis Imperfecta |
|
Thin ribs, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, Enlarged vertebra... |
ORPHA:666 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ... |
ORPHA:319487 |
Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Sensorineural hearing impairment, Arachnodactyly, Atrial... |
ORPHA:314588 |
Mosaic Trisomy 9 |
|
Low-set ears, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Short neck, ... |
ORPHA:99776 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short... |
OMIM:613686 |
Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Sparse scalp hair, Increased circulating prolactin concentration, Recurrent otitis ... |
ORPHA:3455 |
Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Fin... |
ORPHA:1507 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Myopathy, Sensorineural hearing impairment, Generalize... |
ORPHA:1606 |
Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... |
OMIM:113650 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Low-set ears, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morph... |
ORPHA:93267 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,... |
ORPHA:508488 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverti... |
ORPHA:1666 |
Parkes Weber Syndrome |
|
Myelopathy, Urinary retention, Arteriovenous malformation, Vascular tortuosity, Lower limb muscle... |
ORPHA:90307 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... |
ORPHA:798 |
Joubert Syndrome 15 |
|
Nephronophthisis, Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Micropenis, Retinal d... |
OMIM:614464 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... |
ORPHA:254534 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop... |
OMIM:620654 |
Hadziselimovic Syndrome |
|
Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612946 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Edema, Ascites, Microcytic anemia, Abnormal tricuspid valve morpholo... |
ORPHA:90308 |
Lateral Meningocele Syndrome |
|
Low-set ears, Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic v... |
OMIM:130720 |
Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Lon... |
OMIM:608149 |
Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, High palate, Ventric... |
OMIM:620511 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Sensorineural hearing impairmen... |
OMIM:612582 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Ventr... |
OMIM:300373 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... |
ORPHA:363958 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis... |
OMIM:620570 |
Pseudotrisomy 13 Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Ventricular septal defec... |
OMIM:264480 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Conductive hearing impairment, Stenosis of the external auditory canal, Diaphyseal... |
ORPHA:1513 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um... |
ORPHA:1488 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment... |
ORPHA:2790 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Overlapp... |
ORPHA:83617 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Anencephaly, Transposition of the great arteries, Hydrocephalus,... |
OMIM:313850 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Low posterior hair... |
OMIM:617506 |
8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Toe syndactyly, Hearing impairment, Tetralogy of Fallot, Adrenal insuffici... |
ORPHA:251076 |
Tick-Borne Encephalitis |
|
Abnormal medulla oblongata morphology, Elevated circulating hepatic transaminase concentration, S... |
ORPHA:297 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... |
ORPHA:2326 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Muscula... |
OMIM:618569 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... |
ORPHA:99050 |
Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Hearing impairment, Cryptorchidism, Bowing of the long bones, Abn... |
ORPHA:628 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Hearing impairment, Chorioretinal coloboma, Abnormal heart morphology, V... |
ORPHA:284169 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Facial capi... |
OMIM:274000 |
Takenouchi-Kosaki Syndrome |
|
Low-set ears, Clinodactyly, Overlapping toe, Cryptorchidism, Sensorineural hearing impairment, Hy... |
OMIM:616737 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the ureter, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal g... |
ORPHA:1834 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autono... |
ORPHA:83601 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor... |
OMIM:253000 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicuspi... |
ORPHA:453499 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Lateral ventricle dilatation, Abnormality... |
OMIM:607872 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Hearing impairment, Fi... |
ORPHA:84 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Prominent veins on trunk, Cryptorchidism, Mitral valve prolapse, Arachnodac... |
ORPHA:536532 |
Diets-Jongmans Syndrome |
|
Hearing impairment, Umbilical hernia, Long ear, Cryptorchidism, Heterotaxy, Ventricular septal de... |
OMIM:618846 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Broad thumb, Overlapping toe, Ventricular septal defect, Sensorineu... |
ORPHA:435638 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Large fleshy ears, Decreased fibular diameter, Ventricular septal defect, Short nec... |
OMIM:616897 |
Criss-Cross Heart |
|
Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal... |
ORPHA:1461 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Cryptorchidism, Congenital diaphragmatic herni... |
ORPHA:280 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Cryptorchidism, High pa... |
ORPHA:1703 |
Cat Eye Syndrome |
|
Low-set ears, Hearing impairment, Chorioretinal coloboma, Ventricular septal defect, Atrial septa... |
OMIM:115470 |
Myhre Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Hypoplastic iliac wing, En... |
OMIM:139210 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ... |
OMIM:607323 |
Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Urinary glycosami... |
OMIM:253220 |
Tarp Syndrome |
|
Low-set ears, Clinodactyly, Neonatal death, Atrial septal defect, High palate, Premature rupture ... |
OMIM:311900 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im... |
ORPHA:500 |
Maternal Phenylketonuria |
|
Hypoplastic left heart, Hypoplastic helices, Clinodactyly, Abnormal heart morphology, Tetralogy o... |
ORPHA:2209 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Low-set ears, Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Dysplastic sacr... |
OMIM:613320 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Premature birth, Bell-shaped thorax, Large placenta, Polyhydramnios, Diastas... |
ORPHA:254519 |
Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Encephalocele, Cryptorchidism, Ventricular septal defect, Agenesis ... |
OMIM:134780 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Low-set ears, Hypoplastic anterior commissure, Hypoplasia of the pons, Cryptorchidism, Ventricula... |
OMIM:616975 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... |
ORPHA:2635 |
Tarp Syndrome |
|
Hearing impairment, Extramedullary hematopoiesis, Finger syndactyly, Clinodactyly, Abnormal antih... |
ORPHA:2886 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr... |
ORPHA:168549 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Hearing impairment, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, M... |
OMIM:612541 |
Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Cerebellar atrophy, Clinodactyly of the 5th finger, Ventricular septal defect, Protr... |
OMIM:301030 |
Kaposi Sarcoma |
|
Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous ins... |
ORPHA:33276 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatatio... |
OMIM:611209 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Peripheral demyelination, Hepatosplenomegaly, White forelock, Cryptorchidism,... |
OMIM:609136 |
Pagod Syndrome |
|
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... |
ORPHA:991 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ... |
ORPHA:209905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bifid uvula, Hearing impairment, Dysplastic pulmonary valve, Scoliosis, Cleft... |
OMIM:300958 |
Poland Syndrome |
|
Abnormality of the outer ear, Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia... |
ORPHA:2911 |
Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Abnormal helix morphology, Toe syndactyly, Finger syndactyly, Broad... |
ORPHA:373 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se... |
OMIM:610443 |
Bohring-Opitz Syndrome |
|
Low-set ears, Supernumerary nipple, Overlapping toe, Bilateral cleft palate, Ventricular septal d... |
OMIM:605039 |
Fibrochondrogenesis 1 |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l... |
OMIM:228520 |
Perlman Syndrome |
|
Low-set ears, High, narrow palate, Abnormal pancreas morphology, Capillary hemangioma, Hyperinsul... |
ORPHA:2849 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Low-set ears, Alopecia, Horseshoe kidney, Cryptorchidism, Inguinal hernia, Ventricular septal def... |
ORPHA:166035 |
Noonan Syndrome 8 |
|
Low-set ears, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Cryptor... |
OMIM:615355 |
Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Low-set ears, Broad long bones, Encephalocele, Cryptorchidism, Short neck, Hypoplastic ischia, Hy... |
ORPHA:1865 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Abnormal cranial nerve morphology, Venous insufficiency, Intracranial... |
ORPHA:624 |
Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Chiari malformation, Hearing impairment, Cryptorchidism, Ventricular septal defect,... |
OMIM:617159 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r... |
ORPHA:254528 |
Trisomy 18 |
|
Chiari malformation, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, ... |
ORPHA:3380 |
Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Low-set ears, Aplastic anemia, Ventricular septal defect, Short ne... |
OMIM:300514 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Hearing impairment,... |
OMIM:222600 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Sit... |
ORPHA:1908 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Low-set ears, Periportal fibrosis, Frontotemporal hypertrichosis, Large fleshy ears, Abnormal hea... |
OMIM:263210 |
Cowden Syndrome 1 |
|
Hearing impairment, Lymphopenia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Goiter, H... |
OMIM:158350 |
Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Cherry red spot of the macula, Aspiration pneumonia, Hepatosple... |
ORPHA:79255 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w... |
OMIM:253200 |
Holoprosencephaly 14 |
|
Low-set ears, Alobar holoprosencephaly, Cerebellar atrophy, Cyclopia, Ventricular septal defect, ... |
OMIM:619895 |
Fryns Syndrome |
|
Thin ribs, Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism... |
OMIM:229850 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Endocardial fibroelastosis, Generalized hirsut... |
ORPHA:93473 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Low-set ears, Rib exostoses, Hearing impairment, Recurrent otitis media, Lumbar scoliosis, Bicusp... |
OMIM:150230 |
Microphthalmia, Syndromic 9 |
|
Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Neonata... |
OMIM:601186 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Hypomimic face,... |
ORPHA:254892 |
Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,... |
ORPHA:90652 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... |
ORPHA:226313 |
Tetrasomy 15Q26 |
|
Low-set ears, Cupped ear, Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, Arachnodactyly, Atria... |
OMIM:614846 |
Orofaciodigital Syndrome V |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d... |
OMIM:174300 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Fetal distress, Bell-shaped thor... |
OMIM:614857 |
Alagille Syndrome 1 |
|
Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Macrotia, ... |
OMIM:118450 |
Femoral-Facial Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Radioulnar synostosis, Sprengel an... |
ORPHA:1988 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Cerebellar atrophy, Sparse lateral eyebrow, Horseshoe kidney, Vesicoureteral reflux... |
OMIM:619103 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hearing impairment, Overlapping toe, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, ... |
OMIM:619148 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... |
ORPHA:1106 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Elevated circulating parathyroid hormone level, Hearing impairment, Facial diplegi... |
OMIM:122860 |
Noonan Syndrome 2 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai... |
OMIM:605275 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Sensorineural hearing imp... |
OMIM:206900 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Ventricular septal defect,... |
ORPHA:99125 |
Opitz Gbbb Syndrome |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Ankyloglossia, Cryptorchidism, Congenital... |
ORPHA:2745 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing... |
OMIM:249670 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizi... |
ORPHA:95699 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl... |
OMIM:300232 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short ne... |
OMIM:601559 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal hair ... |
ORPHA:3082 |
Zttk Syndrome |
|
Low-set ears, Small hand, Absent gallbladder, Ventricular septal defect, Breech presentation, Atr... |
OMIM:617140 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Low posterior hairli... |
OMIM:213980 |
Adams-Oliver Syndrome |
|
Arteriovenous malformation, Finger syndactyly, Encephalocele, Congenital hepatic fibrosis, Cirrho... |
ORPHA:974 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
Down Syndrome |
|
Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk... |
ORPHA:870 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Goiter, Meningioma... |
OMIM:615108 |
Cowden Syndrome 6 |
|
Hearing impairment, Ovarian cyst, High palate, Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyr... |
OMIM:615109 |
Aspergillosis |
|
Pneumonia, Abnormality of the vertebral column, Hepatitis, Pleural effusion, Abnormal long bone m... |
ORPHA:1163 |
Maffucci Syndrome |
|
Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Breast c... |
ORPHA:163634 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Highly arched eyebrow, Hematochezia, Dilation of Virchow-R... |
ORPHA:261311 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Abnormal lung lobation, Aplasia/Hypop... |
ORPHA:3301 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... |
ORPHA:2306 |
White Forelock With Malformations |
|
Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, White forel... |
ORPHA:2475 |
Diamond-Blackfan Anemia 7 |
|
Hearing impairment, Atresia of the external auditory canal, Recurrent otitis media, Esophagitis, ... |
OMIM:612562 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bell-shaped thorax, Encephalocele, Cryptorchidism, Anal atresia, Flat acetabular roo... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Short tibia, Absent gallbladder, Neonatal death, Low posterior hairline, Short neck... |
OMIM:617925 |
Noonan Syndrome 10 |
|
Low-set ears, Pectus carinatum, Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal tra... |
OMIM:616564 |
Marfanoid Habitus With Situs Inversus |
|
Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachnodac... |
OMIM:609008 |
Jacobsen Syndrome |
|
Low-set ears, Chorioretinal coloboma, Cryptorchidism, Ventricular septal defect, Short neck, Atri... |
OMIM:147791 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Low-set ears, Fractured rib, Ovarian cyst, Patent ductus arteriosus, Gastroesophageal ... |
OMIM:618188 |
Alg9-Cdg |
|
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Low po... |
ORPHA:79328 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb... |
ORPHA:457395 |
Cantú Syndrome |
|
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten... |
ORPHA:1517 |
Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Velopharyngeal insufficienc... |
OMIM:154400 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i... |
OMIM:203800 |
Lymphatic Malformation 6 |
|
Hearing impairment, Atrial septal defect, Periorbital edema, Abnormal pinna morphology, Gastroeso... |
OMIM:616843 |
3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Increased vertebral height, Horizontal ri... |
ORPHA:2616 |
Distal Deletion 12Q |
|
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Shor... |
ORPHA:96149 |
Proteus Syndrome |
|
Low-set ears, Rib exostoses, Pulmonary cyst, Arteriovenous malformation, Finger syndactyly, Decre... |
ORPHA:744 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ... |
OMIM:619656 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral... |
OMIM:602782 |
Recombinant 8 Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hearing impairment, Abnormal sternum morphology, Camp... |
ORPHA:96167 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Low-set ears, High, narrow palate, Gastroesophageal reflux, Cerebellar v... |
OMIM:616920 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal def... |
ORPHA:2772 |
Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Tetralogy of Fallot, ... |
ORPHA:1335 |
Jeune Syndrome |
|
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... |
ORPHA:474 |
Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, Chylothorax, Lymphedema, Abnormal heart morphology, Facial capillary ... |
ORPHA:137667 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Waardenburg Syndrome, Type 2E |
|
Hypopigmentation of the fundus, Premature graying of hair, Ocular albinism, Aplasia of the semici... |
OMIM:611584 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue atrophy, Distal amyotrophy, De... |
OMIM:601596 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Cryptorchidism, Agenesis of corpus callosum, Short neck, Dextrocardia, Hip dislo... |
ORPHA:96092 |
Enlarged Parietal Foramina |
|
Broad thumb, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral ve... |
ORPHA:60015 |
Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Umbilical hernia, ... |
OMIM:252900 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Sparse body hair, Ab... |
ORPHA:3068 |
Campomelic Dysplasia |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Delayed epiphyseal ossification, Hypoplastic cervi... |
OMIM:114290 |
Kleefstra Syndrome |
|
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Agenesis of ... |
ORPHA:261494 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Hearing impairment, Lower limb muscle weakness, Leg muscle stiffness, Distal lower limb amyotroph... |
ORPHA:100991 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cholestasis, Bell-shaped thorax, Genu valgum, Ventricular septal defect, ... |
OMIM:615630 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic valve, Short digit, Clinoda... |
ORPHA:228190 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Alopecia of scalp, Abnormal aortic valve m... |
OMIM:615280 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic ... |
OMIM:614816 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... |
OMIM:604381 |
Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Chiari malformation, Hearing impairment, Chorioret... |
ORPHA:857 |
Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Thickened nuchal skin fold, Umbilical hernia, Short neck, Short foot,... |
ORPHA:93298 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
Schwartz-Jampel Syndrome |
|
Abnormality of the ureter, Genu valgum, Myopathy, Hip contracture, Generalized hirsutism, Bowing ... |
ORPHA:800 |
Lessel-Kreienkamp Syndrome |
|
Hypoplastic helices, Gastroesophageal reflux, Hearing impairment, Clinodactyly of the 5th finger,... |
OMIM:619149 |
Cardiofaciocutaneous Syndrome 1 |
|
Low-set ears, Hearing impairment, Absent eyelashes, Low posterior hairline, Short neck, Periphera... |
OMIM:115150 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature c... |
OMIM:300845 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Cardiofaciocutaneous Syndrome |
|
Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle ha... |
ORPHA:1340 |
Aicardi Syndrome |
|
Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Metastatic angiosarco... |
OMIM:304050 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Hearing impairment, Macrotia, Hypertrophic cardiomyopathy, Low-set, posteriorl... |
ORPHA:2701 |
Williams Syndrome |
|
Chiari malformation, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolaps... |
ORPHA:904 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre... |
ORPHA:562 |
Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
Sarcosinemia |
|
Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hea... |
ORPHA:3129 |
Bilateral Polymicrogyria |
|
Low-set ears, Central hypothyroidism, Cerebellar atrophy, Pseudobulbar paralysis, Facial diplegia... |
ORPHA:268940 |
1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Sensorineural hearing impairment, Age... |
ORPHA:250989 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... |
OMIM:615067 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Highly arched eyebrow, Hearing impairment, Tetralogy of Fallot, Vesicouret... |
ORPHA:96147 |
Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelopathy, Urinary retention, Functional abnormality of the bladder, Lower ... |
ORPHA:79093 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sensorin... |
ORPHA:2072 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synostosis, Sens... |
OMIM:151050 |
Cornelia De Lange Syndrome 1 |
|
Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Sensori... |
OMIM:122470 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased interverteb... |
OMIM:618961 |
Juvenile Polyposis Syndrome |
|
Low-set ears, Arteriovenous malformation, Clubbing of fingers, Stomach cancer, Juvenile gastroint... |
ORPHA:2929 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial... |
OMIM:263520 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,... |
OMIM:603387 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo... |
OMIM:614701 |
Costello Syndrome |
|
Low-set ears, Enlarged cerebellum, Barrel-shaped chest, Ventricular septal defect, Mitral valve p... |
OMIM:218040 |
Frontometaphyseal Dysplasia 2 |
|
Low-set ears, Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural ... |
OMIM:617137 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Sensorineural hearing impairment, Absent e... |
ORPHA:544488 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win... |
OMIM:609945 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... |
OMIM:268310 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter, Umbilical hernia |
OMIM:274400 |
Esophageal Atresia |
|
Abnormal vertebral morphology, Hearing impairment, Clinodactyly, Esophagitis, Abnormal gastrointe... |
ORPHA:1199 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, High palate, Short... |
OMIM:608328 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Sens... |
ORPHA:500095 |
Peters-Plus Syndrome |
|
Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Cryptorchidism, Vent... |
OMIM:261540 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Thoracic hypoplasia, Hearing impairment, Short femoral nec... |
OMIM:618363 |
Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Cupped ear, Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint c... |
OMIM:618914 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Otitis media, Heterotaxy, Chronic bronc... |
OMIM:613807 |
Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Hearing impairment, Co... |
ORPHA:2484 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Low-set ears, Breech presentation, Micropenis, Abnormality of the diaphragm, Dysphagia... |
ORPHA:171430 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Cowden Syndrome |
|
Neoplasm of the skin, Follicular thyroid carcinoma, Hearing impairment, Melanoma, Adenoma sebaceu... |
ORPHA:201 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Exostosis of the external auditory canal, Cryptorchidism, Congenital diaphragmatic ... |
OMIM:265000 |
Menkes Disease |
|
Narrow chest, Gastrointestinal hemorrhage, Umbilical hernia, Arterial stenosis, Tarsal synostosis... |
ORPHA:565 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Sensorineural hearing impairment, Aplasia/Hypopl... |
ORPHA:3320 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, Hearing impairment, 11 pairs of ribs, Cryptorchidis... |
ORPHA:77298 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, H... |
ORPHA:1797 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Cat-Eye Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Anal atresia... |
ORPHA:195 |
Kapur-Toriello Syndrome |
|
Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ... |
ORPHA:2328 |
Coffin-Siris Syndrome 1 |
|
Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Cryptorchidism, Congenital dia... |
OMIM:135900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Chiari malformation, Cryptorchidism, Ventricular septal defec... |
ORPHA:353281 |
Monosomy 9Q22.3 |
|
Low-set ears, Chiari malformation, Abnormality of the vertebral column, Umbilical hernia, Retinop... |
ORPHA:77301 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Epiph... |
OMIM:274300 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... |
OMIM:614300 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Recurrent sinusitis, Otitis media, Heterotaxy |
OMIM:618781 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac... |
OMIM:271530 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... |
OMIM:230500 |
Atelosteogenesis Type I |
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Platyspondyly, Low-set ears, Narrow chest, Pulmonary hypoplasia, Short femur, Thoracic hypoplasia... |
ORPHA:1190 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
Acrocardiofacial Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Abnor... |
ORPHA:2008 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Alopecia, Congenital hip dislocation, Hearing impairment, Finger ... |
ORPHA:1647 |
Pendred Syndrome |
|
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... |
OMIM:274600 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala... |
ORPHA:2256 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Ulnar deviation of the 2nd finger, Sensorineural hearing impairmen... |
ORPHA:456312 |
Cerebrocostomandibular Syndrome |
|
Low-set ears, Bell-shaped thorax, Cleft soft palate, Ventricular septal defect, Short hard palate... |
OMIM:117650 |
Kabuki Syndrome 2 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Atrial septal defect, High palate, Hip ... |
OMIM:300867 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Hearing impairment, Genu valgum, Abnormal metacarpal morphology, Hypoplasti... |
ORPHA:1452 |
Alpha-Mannosidosis, Infantile Form |
|
Chiari malformation, Hepatosplenomegaly, Pancytopenia, Genu valgum, Myopathy, Sensorineural heari... |
ORPHA:309282 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Clinodacty... |
ORPHA:2759 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect... |
OMIM:617397 |
Cranioectodermal Dysplasia 2 |
|
Low-set ears, Clinodactyly, Cholestasis, Sparse eyelashes, Short neck, Atrial septal defect, Hepa... |
OMIM:613610 |
Bohring-Opitz Syndrome |
|
Agenesis of corpus callosum, Bilateral wrist flexion contracture, Cholelithiasis, Annular pancrea... |
ORPHA:97297 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... |
ORPHA:97289 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... |
OMIM:615382 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Low-set ears, Broad thumb, Chiari malformation, Cryptorchidism, Ventricula... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Low-set ears, Broad thumb, Chiari malformation, Cryptorchidism, Ventricula... |
ORPHA:353277 |
Occipital Horn Syndrome |
|
Cholestasis, Humerus varus, Esophagitis, Genu valgum, Abnormal fibula morphology, Jaundice, Dysph... |
ORPHA:198 |
Warsaw Breakage Syndrome |
|
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:613398 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul... |
OMIM:301068 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Abnorma... |
ORPHA:667 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Small hand, Bilateral conductive hearing impairment, Hearing impairment, Abnormal morphology of t... |
ORPHA:488642 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Chiari malformation, Hearing impairment, Lateral ventricle dilatation, Absent gallb... |
ORPHA:500150 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb... |
ORPHA:75508 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Chiari malformation, Elbow contracture, Irregular epiphyses, Clinodactyly of th... |
OMIM:618162 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Renal insufficiency, Sensorineural hearing impairment, Abnormality o... |
ORPHA:3327 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter... |
ORPHA:1145 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
Noonan Syndrome 7 |
|
Low-set ears, Pectus carinatum, Hypertrophic cardiomyopathy, Large earlobe, Low posterior hairlin... |
OMIM:613706 |
Microform Holoprosencephaly |
|
Iris coloboma, Duodenal atresia, Cyclopia, Tetralogy of Fallot, Panhypopituitarism, Agenesis of c... |
ORPHA:280200 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Premature birth, Abnormality of the calcaneus, Atrioventricular canal defect, Conotru... |
ORPHA:40366 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Small hand, Toe syndactyly, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicusp... |
OMIM:610759 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Recurrent otitis media, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Ovo... |
OMIM:608940 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Low-set ears, Generalized edema, Tetralogy of Fallot, Overlapping toe, R... |
OMIM:617478 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Pectus carinatum, Hearing impairment, Abnormal sternum morphology, Abnormal pulmonary valve morph... |
ORPHA:137634 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Cryptorchidism, Arachnodactyly, Ulnar deviation of finger, Amniotic constricti... |
ORPHA:2215 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Basal cell carcinoma, I... |
OMIM:109400 |
Achondrogenesis Type 1A |
|
Narrow chest, Thickened nuchal skin fold, Umbilical hernia, Multiple rib fractures, Short neck, S... |
ORPHA:93299 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Alopecia, Sparse eyebrow, Sparse scalp hair, Atherosclerosis, Decreased serum leptin, ... |
OMIM:614008 |
Noonan Syndrome 6 |
|
Low-set ears, Edema, Abnormal sternum morphology, Long eyebrows, Hypertrophic cardiomyopathy, Juv... |
OMIM:613224 |
Thanatophoric Dysplasia, Type I |
|
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat... |
OMIM:187600 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Congenital hypothyroidism, Cryptor... |
ORPHA:2519 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Coffin-Siris Syndrome 12 |
|
Low-set ears, Broad thumb, Chiari malformation, Velopharyngeal insufficiency, Enlarged cerebellum... |
OMIM:619325 |
Feingold Syndrome 1 |
|
Low-set ears, Hearing impairment, Ventricular septal defect, High palate, Duodenal atresia, Paten... |
OMIM:164280 |
Noonan Syndrome 4 |
|
Low-set ears, Sparse eyebrow, High anterior hairline, Abnormal sternum morphology, Hypertrophic c... |
OMIM:610733 |
Mucopolysaccharidosis, Type Iiid |
|
Low-set ears, Epiphyseal dysplasia, Hearing impairment, Recurrent otitis media, Short neck, Ovoid... |
OMIM:252940 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Slender long bone, Amniotic const... |
ORPHA:1486 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Low-set ears, Broad thumb, Finger syndactyly, Preaxial hand polydactyl... |
ORPHA:2211 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ... |
OMIM:113000 |
Floating-Harbor Syndrome |
|
Low-set ears, Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior hairline, Short ... |
OMIM:136140 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of ... |
ORPHA:3098 |
Meckel Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Congenit... |
ORPHA:564 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Abnormal skeletal muscle morphology, Neoplasm of the skeletal system, Tracheoesophageal f... |
ORPHA:142 |
Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Agenesis of corpus callosum, Neut... |
OMIM:227646 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Lateral ... |
OMIM:619534 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Low-set ears, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovo... |
OMIM:151210 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Retinal de... |
OMIM:609616 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Retinal vascular tortuosi... |
OMIM:192430 |
Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Skeletal muscle atrophy, Goiter, Sensorineural hearing impairment, Thrombocytopenia |
OMIM:274240 |
Kawasaki Disease |
|
Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve... |
ORPHA:2331 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona... |
ORPHA:525731 |
Mycophenolate Mofetil Embryopathy |
|
Iris coloboma, Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory can... |
ORPHA:268249 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Eosinophilic infiltration of the esophagus, Reduced... |
OMIM:615508 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Neoplasm of the breast, Neoplasm of the thyroid gland, Venous insuffi... |
ORPHA:137608 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Pulmonary hypoplas... |
OMIM:620025 |
Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Unossified sacrum, Hearing impairment, Absent vertebral body mine... |
ORPHA:93296 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Small hand, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ven... |
OMIM:300712 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Low-set, posteriorly rotated ears, A... |
ORPHA:1110 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
OMIM:225250 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Hydroureter, Cryptorchidism, Ventricular septal defect, Short neck, Coarctation o... |
OMIM:616559 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly, Cryptorchidi... |
ORPHA:1131 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Low-set ears, Chorioretinal coloboma, Cryptorchidism, Sparse eyelashes, High palate, S... |
OMIM:234100 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Proximal... |
OMIM:162300 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Low-set ears, Chiari malformation, Carpal synostosis, Patellar apl... |
OMIM:218600 |
Proteus-Like Syndrome |
|
Bronchogenic cyst, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma,... |
ORPHA:2969 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Glue ear, Cryptorchidism, Abnormal... |
ORPHA:3310 |
Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of... |
OMIM:305620 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Tendon rupture, Hip dislocation, Rec... |
ORPHA:285 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive ... |
ORPHA:261197 |
Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Carpal bone hypoplasia, Radi... |
OMIM:147750 |
Pendred Syndrome |
|
Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai... |
ORPHA:705 |
Aicardi Syndrome |
|
Small hand, Chorioretinal coloboma, Multiple lipomas, Hepatoblastoma, Retinal detachment, Precoci... |
ORPHA:50 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Neoplasm of the skin, Abnormal venous morphology, Lymphedema... |
ORPHA:79452 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... |
OMIM:601927 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Recurrent otitis media, Mitral valve prolapse, Ventricular septal defe... |
OMIM:194050 |
Feingold Syndrome |
|
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal form of the vertebral bod... |
ORPHA:1305 |
Tyshchenko Syndrome |
|
Low-set ears, High, narrow palate, Narrow chest, Narrow palate, Supernumerary nipple, Cryptorchid... |
OMIM:615102 |
Yunis-Varon Syndrome |
|
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ve... |
ORPHA:3472 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Cryptorchidism, Bicuspid aortic valve, Hypospadias, Ectopic kidney, Gastroesophageal reflux, Abno... |
OMIM:301111 |
Distal Deletion 19P |
|
Alopecia, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly rotated ears, Thi... |
ORPHA:96129 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Amyoplasia, Fetal akinesia sequence, Ve... |
OMIM:312150 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Abnormal hair whorl, Broad hallux, Clinodactyly of the 5th finger, Ing... |
ORPHA:457284 |
Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Inguinal... |
OMIM:616028 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Renal hypoplasia, Spinal dysraphism, Sandal gap, Venous malformation, Splenomegaly,... |
OMIM:612918 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... |
ORPHA:449400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,... |
ORPHA:163979 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Finger syndactyly, Oligohydramnios, Abnormal antihelix morphology, Ap... |
ORPHA:2145 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Short ne... |
OMIM:257300 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... |
OMIM:600791 |
8P11.2 Deletion Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Hemolytic anemia, Cryptorchidism, M... |
ORPHA:251066 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Abnormal ... |
ORPHA:583 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
Thauvin-Robinet-Faivre Syndrome |
|
Retinal coloboma, Bifid ureter, Long hallux, Transient neutropenia, Bowing of the legs, Inguinal ... |
OMIM:617107 |
Orofaciodigital Syndrome Xiv |
|
Low-set ears, Occipital encephalocele, Cryptorchidism, Ventricular septal defect, Micropenis, Atr... |
OMIM:615948 |
Livedoid Vasculopathy |
|
Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, ... |
ORPHA:542643 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Cryptorc... |
OMIM:615633 |
Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Ventricular... |
OMIM:188400 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Hydrocephalus,... |
ORPHA:2180 |
Multiple Osteochondromas |
|
Rib exostoses, Abnormal tibia morphology, Genu valgum, Intestinal obstruction, Bowing of the long... |
ORPHA:321 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ... |
ORPHA:2522 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Low-set ears, Narrow chest, Hypoplastic ilia, Edema, Flared metaphysis, Broad long... |
ORPHA:2347 |
Becker Nevus Syndrome |
|
Pectus carinatum, Shoulder girdle muscle atrophy, Supernumerary nipple, Abnormal tibia morphology... |
ORPHA:64755 |
Costello Syndrome |
|
Ulnar deviation of finger, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Low-set, posteri... |
ORPHA:3071 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:184260 |
Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Hypertrichosis, He... |
OMIM:252930 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Hearing impairment, Abnormal rib ... |
ORPHA:582 |
Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip... |
ORPHA:821 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Iris coloboma, Chorioretinal coloboma, Sensorineural hearing impairment, Agenesis ... |
OMIM:615219 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Broad thumb, Upper limb undergrowth, Recurrent otitis media, Thick eyebrow, Vesicou... |
ORPHA:529962 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impairmen... |
OMIM:194190 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral valve prolapse, Pulmonary art... |
OMIM:175050 |
Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Low-set ears, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Sh... |
OMIM:620369 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Clubbing of toes, Lymphedema, Abnormal thorax morphology, Oligohydr... |
ORPHA:1318 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Broad long bones, Aplasia/Hypoplasia involving the pelvis, Facial hir... |
ORPHA:163654 |
Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Lateral ven... |
OMIM:147920 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Low-set ears, Dilated cardiomyopathy, Clinodactyly, Coronary artery fistula, Biventricular hypert... |
OMIM:619343 |
Mosaic Trisomy 8 |
|
Hearing impairment, Abnormal antihelix morphology, Cryptorchidism, Agenesis of corpus callosum, P... |
ORPHA:96061 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Inguinal hernia, Hydronephrosis, Contracture of the proximal interphalangeal jo... |
OMIM:620141 |
Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Chiari malformation, Midclavicular aplasia, Chorioretinal coloboma,... |
OMIM:305600 |
Noonan Syndrome 1 |
|
Low-set ears, Hearing impairment, Neurofibrosarcoma, Clinodactyly, Cryptorchidism, Ventricular se... |
OMIM:163950 |
17Q11 Microdeletion Syndrome |
|
Low-set ears, Glioma, Neurofibrosarcoma, Abnormal choroid morphology, Brainstem glioma, Brain neo... |
ORPHA:97685 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral b... |
ORPHA:3258 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurrent otit... |
ORPHA:261537 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal sternum morphology, Abnormal heart morphology, Tetralogy of Fallot,... |
ORPHA:2847 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ... |
ORPHA:261183 |
Noonan Syndrome 3 |
|
Low-set ears, Pectus carinatum, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cr... |
OMIM:609942 |
Neurofibromatosis-Noonan Syndrome |
|
Abnormal helix morphology, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Abnorm... |
ORPHA:638 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hypoplastic anterior commissure, Lateral ven... |
ORPHA:261552 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Gastroesophageal reflux, Umbilical hernia, Hirsutism, Attached earlobe, Tapered finger, Hip dyspl... |
OMIM:616977 |
Achondroplasia |
|
Thoracolumbar kyphosis, Hip joint hypermobility, Thoracic hypoplasia, Cervical spinal canal steno... |
ORPHA:15 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... |
ORPHA:93941 |
Aymé-Gripp Syndrome |
|
Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, ... |
ORPHA:1272 |
H Syndrome |
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Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Recurrent pharyngitis, Histiocytosis, ... |
ORPHA:168569 |
Syndromic Diarrhea |
|
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... |
ORPHA:84064 |
Multiple Pterygium Syndrome, Lethal Type |
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Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Amyoplasia, Fetal akinesia sequence, Ve... |
OMIM:253290 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo... |
ORPHA:3186 |
Coffin-Siris Syndrome |
|
Hearing impairment, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect... |
ORPHA:1465 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... |
OMIM:613795 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F... |
OMIM:610205 |
Noonan Syndrome 14 |
|
Low-set ears, Pectus carinatum, Sparse eyebrow, High, narrow palate, Lateral ventricle dilatation... |
OMIM:619745 |
Chromosome 16P13.3 Duplication Syndrome |
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Low-set ears, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Small ... |
OMIM:613458 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
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Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter, Triphalangeal thumb... |
ORPHA:2091 |
Premature Aging Syndrome, Penttinen Type |
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Thin ribs, Short distal phalanx of finger, Retrocerebellar cyst, Elevated circulating thyroid-sti... |
OMIM:601812 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Chorioretinal coloboma, Cryptorchidism, Pseudoepiphyse... |
OMIM:107480 |
Mowat-Wilson Syndrome |
|
Chorioretinal coloboma, Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Ventricular... |
OMIM:235730 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema, Abnormal rib morphology |
ORPHA:97330 |
Noonan Syndrome 5 |
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Low-set ears, Sparse eyebrow, Abnormal sternum morphology, Fine hair, Hypertrophic cardiomyopathy... |
OMIM:611553 |
Fetal Iodine Deficiency Disorder |
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Congenital goiter, Congenital hypothyroidism, Hearing impairment |
OMIM:228355 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... |
ORPHA:485 |
Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:618280 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Sensorineural heari... |
OMIM:118100 |
Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Hearing impairment, Conotruncal defect, Cryptorchidism, Protruding tongu... |
OMIM:610253 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly pla... |
ORPHA:2319 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... |
ORPHA:239 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ... |
ORPHA:958 |
Fibrochondrogenesis |
|
Low-set ears, Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:2021 |
Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Heparan sulfate ex... |
OMIM:252920 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Cryptorchidism, Arachnodactyly, Anterior rib cupping, Basal cell c... |
ORPHA:377 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Upper... |
ORPHA:93351 |
Coffin-Siris Syndrome 4 |
|
Short 5th finger, Macroglossia, Sparse scalp hair, Hearing impairment, Hypertrichosis, Mitral atr... |
OMIM:614609 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Premature rupture of membranes, Slender finger, Aortic dissection, Cerebellar hypoplasia, Vascula... |
OMIM:618343 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Low-set ears, Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Horizont... |
OMIM:617895 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Atrioventricular canal defec... |
OMIM:617088 |
Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l... |
ORPHA:1801 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Ch... |
OMIM:164210 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... |
ORPHA:93315 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Cerebellar atrophy, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic co... |
OMIM:614833 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Hepatic steatosis, 3-Methylglutaconic aciduria, S... |
ORPHA:17 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Sandwich appearance of ve... |
OMIM:620558 |
Ascher Syndrome |
|
Deviation of finger, Goiter, Upper eyelid edema, Hypothyroidism, High palate |
ORPHA:1253 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Renpenning Syndrome 1 |
|
Joint contracture of the hand, Hearing impairment, Ventricular septal defect, Atrial septal defec... |
OMIM:309500 |
Coccidioidomycosis |
|
Hearing impairment, Abnormality of the spleen, Abnormal metacarpal morphology, Pleural empyema, V... |
ORPHA:228123 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... |
OMIM:271640 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Low-set ears, Peripheral pulmonary artery stenosis, Toe syndactyly, Hydroureter, Valvular pulmona... |
OMIM:300707 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia o... |
OMIM:224690 |
Dysosteosclerosis |
|
Hearing impairment, Increased intervertebral space, Diaphyseal undertubulation, High palate, Irre... |
OMIM:224300 |
Floating-Harbor Syndrome |
|
Low-set ears, Clinodactyly, Cryptorchidism, Short neck, Atrial septal defect, Broad fingertip, Ce... |
ORPHA:2044 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm |
OMIM:616534 |
Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Sensorine... |
ORPHA:488632 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Retinal detachment, Elevated... |
ORPHA:892 |
Oculocerebrorenal Syndrome Of Lowe |
|
Neoplasm of the skin, Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Ch... |
ORPHA:534 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
Occipital Horn Syndrome |
|
Genu valgum, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Orthostatic hy... |
OMIM:304150 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Nonarteritic anterior ischemic optic neuropath... |
OMIM:125310 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Enlarged cerebellum,... |
ORPHA:2152 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Low-set ears, Chiari malformation, Clinodactyly, Prominent scalp veins, Cryptorchidism... |
OMIM:264090 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Abnormal venous morphology, Abnormal cerebral vascular morpholo... |
ORPHA:276280 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Retinal dystrophy, Goiter |
OMIM:617175 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Retinopathy, Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:743 |
Atelis Syndrome 2 |
|
Low-set ears, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:620185 |
Sprengel Deformity |
|
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... |
OMIM:184400 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment, Femoral bowing, Biconcave flattened vertebrae, Mitral valve pro... |
OMIM:166200 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Genu valgum, Barrel-shaped ch... |
OMIM:143095 |
Lymphangiectasia, Intestinal |
|
Edema, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Stillbirth, Prominent ... |
OMIM:152800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Cryptorchidism, Neonatal death, Bowi... |
OMIM:224410 |
Opsismodysplasia |
|
Renal phosphate wasting, Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Sh... |
OMIM:258480 |
Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... |
OMIM:275000 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Unilateral renal agenesis, Narrow chest, Hepatic fibrosis, Hepa... |
OMIM:620454 |
Achondrogenesis, Type Ia |
|
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... |
OMIM:200600 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Decreased serum testostero... |
ORPHA:168563 |
Von Willebrand Disease |
|
Gastrointestinal hemorrhage, Deviation of finger, Microcytic anemia, Gastrointestinal angiodyspla... |
ORPHA:903 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Bifid uvula, Cerebellar vermis hypoplasia, Prominent antihelix, Secundum a... |
OMIM:615802 |
Cog1-Cdg |
|
Posterior rib gap, Cerebellar vermis hypoplasia, Abnormal macular morphology, Low-set, posteriorl... |
ORPHA:263508 |
Multiple Endocrine Neoplasia Type 2 |
|
Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u... |
ORPHA:653 |
Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:745 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Gastroin... |
ORPHA:88628 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Distichiasis, Varicose veins, Peripheral arterial stenosis, Patent duc... |
OMIM:126320 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscle fibers, P... |
ORPHA:169189 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Vent... |
ORPHA:2473 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Sparse body hair, Hypogonadism, Decreased testicular size,... |
ORPHA:2234 |
Cornelia De Lange Syndrome 6 |
|
Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Arachnodactyly, Macrotia, Pectu... |
OMIM:620568 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hearing impairment, A... |
OMIM:613309 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Hearing impairment, Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal r... |
ORPHA:2578 |
Legius Syndrome |
|
Hearing impairment, Male urethral meatus stenosis, Abnormal sternum morphology, Acute monocytic l... |
ORPHA:137605 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Hematuria, Cirrhosis, Visceral angiomatosis, Retinal telangiectasia, ... |
ORPHA:774 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhag... |
OMIM:615368 |
Leopard Syndrome 1 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairment, Aplasia of... |
OMIM:151100 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Renal hypoplasia, Anal stenosis, Caudal appendage, Conductive heari... |
ORPHA:314679 |
Myhre Syndrome |
|
Hearing impairment, Cryptorchidism, Hypospadias, Epispadias, Abnormal penis morphology, Precociou... |
ORPHA:2588 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Thin ribs, Hypoplasia of the musculature, Small hypothenar eminence, Thin m... |
ORPHA:2463 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Abnormal mesentery morpholog... |
ORPHA:2167 |
Stüve-Wiedemann Syndrome |
|
Smooth tongue, Camptodactyly of finger, Elbow flexion contracture, Oligohydramnios, Genu valgum, ... |
ORPHA:3206 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Eosinophilia, Atrial ... |
OMIM:618282 |
Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, High palate, Dilatat... |
ORPHA:284984 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... |
OMIM:180295 |
Woolly Hair Nevus |
|
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Enlarg... |
ORPHA:79414 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu... |
ORPHA:95494 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Aortic valve stenosis, Irregular acetabular roof, Broad ribs, Thi... |
OMIM:619698 |
Fibrous Dysplasia Of Bone |
|
Hearing impairment, Increased circulating cortisol level, Abnormal tibia morphology, Ovarian cyst... |
ORPHA:249 |
Perlman Syndrome |
|
Interrupted aortic arch, Low-set ears, Distal ileal atresia, Renal hamartoma, Volvulus, Nephrobla... |
OMIM:267000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs... |
OMIM:608728 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Abdominal situs inversus, Atrioventricular canal defect, Clinodacty... |
OMIM:619123 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... |
OMIM:619424 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Mediastinal lymphadenopat... |
ORPHA:99868 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short 5th finger, Narrow chest, Elevated circulating hepatic transaminase concentratio... |
ORPHA:73230 |
Clapo Syndrome |
|
Macrodactyly, Narrow chest, Lymphedema, Capillary hemangioma, Venous malformation, Ganglioneuroma... |
ORPHA:168984 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, High palate, Hypospadias, S... |
OMIM:614091 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Joint contracture of the hand, Broad long bones, Encephalocele, Hirsutism, Short ri... |
OMIM:224400 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Yellow nails, Kyphosis, Chylothorax, Lymphedema, Tetralogy o... |
OMIM:153400 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... |
OMIM:611717 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ... |
ORPHA:438213 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Polycystic liver dise... |
OMIM:208500 |
Norrie Disease |
|
Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Cryptorchidism, Sens... |
ORPHA:649 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Curly h... |
OMIM:615279 |
Specc1L-Related Hypertelorism Syndrome |
|
Low-set ears, Highly arched eyebrow, Abnormal helix morphology, Finger syndactyly, Short toe, Umb... |
ORPHA:1519 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Conductive hearing impairment, Abnormality of the vertebral column, Sp... |
OMIM:601076 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Neutropenia, Abnormal rib morphology, Recurrent res... |
ORPHA:2643 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Short metacarpal, Ovoid verte... |
ORPHA:85167 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowin... |
ORPHA:3035 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Goiter |
OMIM:109900 |
Thyroid Lymphoma |
|
Lymphoma, Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia |
ORPHA:97285 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Low-set ears, Recurrent otitis media, Microcytic anemia, Ankyloglossia, Hepatic steatosis, Ventri... |
OMIM:619525 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis |
OMIM:185500 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral valve prolapse, Bicuspid aortic valve, Right atrial enlargement, Pectus excavatum, Narrow ... |
ORPHA:555877 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal hemidiaphragm ... |
ORPHA:980 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,... |
ORPHA:1332 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Short neck, Hepatoblastoma, Atrial septal def... |
OMIM:269150 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of... |
ORPHA:2097 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Sparse eyebrow, Hearing impairment, Lateral ventricle dilatation, T... |
OMIM:619869 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Low-set ears, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, ... |
OMIM:300863 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Peripheral edema, Interstitial cardiac fibrosis, Stroke, Left atrial... |
ORPHA:75249 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Sclerosteosis 1 |
|
Broad clavicles, Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Hear... |
OMIM:269500 |
Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Mitral valve prolapse, Abnormal intestine mor... |
ORPHA:286 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Micropenis, Anal atresia, Polycystic kidney dysplasia, Cone-shaped e... |
OMIM:613091 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyp... |
OMIM:277600 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Gastrointestinal hemo... |
OMIM:187300 |
Cenani-Lenz Syndactyly Syndrome |
|
Metacarpal synostosis, Renal hypoplasia, Broad hallux, Radioulnar synostosis, Ectopic kidney, Hem... |
OMIM:212780 |
Yunis-Varon Syndrome |
|
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Cryptorch... |
OMIM:216340 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Pulmonary hypoplasia, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, F... |
OMIM:615503 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Low-set ears, Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the ca... |
ORPHA:163966 |
Bangstad Syndrome |
|
Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter |
OMIM:210740 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, Gastroesophagea... |
ORPHA:93316 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... |
OMIM:614524 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Absent pulmonary artery, Crumpled long bones, Protrusio acetabuli, Hearing abnormal... |
OMIM:610682 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Mitral valve prolapse, Pulmonary bulla, Absent earlobe, Finger joint hypermobilit... |
OMIM:130050 |
Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo... |
OMIM:612921 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:93346 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia... |
OMIM:250420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Umbilical hernia, Recurrent otitis media, Broad ribs, Hepatos... |
OMIM:301066 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h... |
OMIM:307500 |
Igg4-Related Thyroid Disease |
|
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... |
ORPHA:64744 |
Fraser Syndrome |
|
Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd... |
ORPHA:2052 |
Pearson Syndrome |
|
Hearing impairment, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidis... |
ORPHA:699 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bones, Spondylolisthesis,... |
OMIM:252600 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Epiphyseal dysplasia, Recurrent pneumonia, Aplasia/Hypoplasia of the capital femor... |
OMIM:215150 |
Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... |
ORPHA:90186 |
Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Spondyloepiphyseal Dysplasia Congenita |
|
Hearing impairment, Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Short neck, ... |
ORPHA:94068 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... |
ORPHA:1836 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Congenital Tracheal Stenosis |
|
Abnormal earlobe morphology, Abnormality of the ureter, Anomalous origin of left pulmonary artery... |
ORPHA:141127 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v... |
ORPHA:71273 |
You-Hoover-Fong Syndrome |
|
Hearing impairment, Clinodactyly, Kyphoscoliosis, Coarctation of aorta, Brachydactyly, Pectus exc... |
OMIM:616954 |
Monosomy 9P |
|
Low-set ears, Atresia of the external auditory canal, Abnormal antihelix morphology, Cryptorchidi... |
ORPHA:261112 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... |
ORPHA:95430 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Hydranencephaly, Multicystic kidney dysplasia, Conductive hearing impairment, ... |
ORPHA:1393 |
Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Narrow chest, Coarse hair, Low-set, posteriorly rotated ears, Thick... |
ORPHA:1394 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, ... |
OMIM:600460 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... |
ORPHA:93352 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... |
OMIM:600920 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Goiter |
OMIM:188580 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Sparse eyebrow, Conductive hearing impa... |
ORPHA:306542 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cry... |
OMIM:276820 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Alopecia, Toe syndactyly, Supernumerary nipple, Te... |
OMIM:100300 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone, Abn... |
ORPHA:1506 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... |
OMIM:250220 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Aortic valve stenosis, Alopecia, Capillary hemangioma, Abnormal aortic m... |
ORPHA:2396 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, A... |
OMIM:617052 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Fibrosarcoma, Proteinuria, Abnormality of the pulmonary vasc... |
ORPHA:33001 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Centrally nucleated skeletal muscle fibers, Atelectasis, Bilateral cryptorchidism, Gla... |
OMIM:300219 |
Acrocephalopolydactylous Dysplasia |
|
Low-set ears, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Ascites, Hypoplastic colon, Sh... |
OMIM:200995 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Hearing impairment, Slender long bone, Protrusio acetabuli, Biconcave vertebral bodies... |
OMIM:259420 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... |
OMIM:612422 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab... |
OMIM:615777 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... |
OMIM:620233 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Arterial calcification, Cardiomegaly, Coronary artery calcification, Right atri... |
OMIM:614473 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
Carney Complex, Type 1 |
|
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... |
OMIM:160980 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre... |
OMIM:608681 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... |
OMIM:259440 |
Gitelman Syndrome |
|
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointer... |
ORPHA:358 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Polycythemia, Cerebral arteriovenous malfor... |
OMIM:600376 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hyperthyroidism, Goiter |
OMIM:231690 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... |
OMIM:271665 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Low-set ears, Loose anagen hair, Sparse scalp hair, Abnormal sternum morphology, Hypertrophic car... |
OMIM:607721 |
Hypophosphatasia |
|
Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib morphology, Anemia, Abnormal meta... |
ORPHA:436 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Sparse lateral eyebrow, Recurrent otitis media, Right aortic arch, Ventr... |
ORPHA:513456 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Chiari malformation, Genu valgum, Neu... |
ORPHA:93357 |
Achondrogenesis, Type Ii |
|
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... |
OMIM:200610 |
Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ... |
ORPHA:95712 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic ... |
ORPHA:139466 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Cryptorchidism,... |
OMIM:180700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small hand, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent... |
OMIM:268400 |
Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Slender metacarpals, Microvesicular he... |
OMIM:620601 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... |
ORPHA:2248 |
Matthew-Wood Syndrome |
|
Low-set ears, Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicouret... |
ORPHA:2470 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Thin ribs, Narrow chest, Recurrent pneumonia, Thoracic hypoplasia, Broad ribs, Gen... |
OMIM:613848 |
Pontine Tegmental Cap Dysplasia |
|
Sensorineural hearing impairment, Rib fusion, Pontine tegmental cap, Dysphagia, Hemivertebrae, Fa... |
OMIM:614688 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Optic atrophy, Broad femoral neck, Hearing impairment, Broad ribs, Optic nerve com... |
OMIM:619727 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elliptocytosis, Proximal renal tubular acidosis, Hepatomegaly, High palate, Seconda... |
ORPHA:2785 |
Liposarcoma |
|
Sarcoma, Varicose veins |
ORPHA:69078 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Oral-pharyngeal dysphagia, 11 pairs of ribs, Patent foramen ovale, Atrial septal defect, Brachyda... |
OMIM:619184 |
Monosomy 13Q34 |
|
Hematochezia, Postaxial foot polydactyly, Horizontal eyebrow, Abnormal earlobe morphology, Hepati... |
ORPHA:96168 |
Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Conductive hearing impairment, Radial bowing, Decreased... |
OMIM:602152 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i... |
OMIM:225500 |
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm |
|
Celiac artery compression |
OMIM:116870 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Varicose veins, Increased hematocrit, Increase... |
OMIM:263400 |
Aceruloplasminemia |
|
Macular degeneration, Abnormal pancreas morphology, Refractory anemia, Abnormality of retinal pig... |
ORPHA:48818 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... |
OMIM:610655 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Abnorma... |
ORPHA:1677 |
Keutel Syndrome |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... |
OMIM:245150 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Atrial ... |
ORPHA:363700 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Cerebellar atrophy, Exocrine pancreatic insufficiency, Ulnar deviation of the 2... |
OMIM:616263 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Craniometadiaphyseal Dysplasia |
|
Low-set ears, Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Coxa valga, High pala... |
OMIM:269300 |
Kbg Syndrome |
|
Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Macrotia, ... |
OMIM:148050 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, Low-set ears, Narrow chest, Hip dislocation, Hearing impairment... |
ORPHA:140 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm... |
OMIM:619313 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Abnormal epiphysis morphology, Mitral valve prolapse, Sensorineura... |
ORPHA:90354 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... |
OMIM:618748 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Thin ribs, Oligohydramnios, Hydrocephalus, Narrow iliac wing, Pectus excavatum, Hi... |
OMIM:616294 |
Atrial Septal Defect, Ostium Primum Type |
|
Clubbing of toes, Pulmonary artery dilatation, Peripheral edema, Left atrial enlargement, Left ve... |
ORPHA:99106 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... |
OMIM:171400 |
Geleophysic Dysplasia 1 |
|
Platyspondyly, Aortic valve stenosis, Joint contracture of the hand, Irregular capital femoral ep... |
OMIM:231050 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Bowing of the long bones, ... |
ORPHA:2050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Metaphyseal irregularity, Short femoral neck, Narrow vertebral interped... |
OMIM:618395 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia |
OMIM:243440 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Bowing o... |
OMIM:617952 |
Cirrhotic Cardiomyopathy |
|
Ascites, Peripheral edema, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, P... |
ORPHA:57777 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Small hand, Broad femoral neck, Thick eyebrow, Thickened cortex o... |
ORPHA:488434 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... |
OMIM:614823 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set ears, Secundum atrial septal defect, Neurofibroma, Cryptorchidism, Pectus excavatum of in... |
OMIM:601321 |
Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Femoral bowing, Arachno... |
ORPHA:83 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Pyelonephritis, Cryptorchidism, Torticollis, Varicose veins |
OMIM:314300 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ... |
ORPHA:85184 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ... |
ORPHA:2554 |
Shwachman-Diamond Syndrome 2 |
|
Low-set ears, Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Ante... |
OMIM:617941 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Conductive hearing impairment, Hearing impairment, Multiple rib frac... |
OMIM:616229 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal optic nerve morphology, Abnormality ... |
ORPHA:79078 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Metaphyseal cupping, Hearing impairment, Hyperphosphaturia, Hip contracture, Sh... |
OMIM:156400 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Hydrocephalus,... |
OMIM:602361 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Low-set ears, Fibular aplasia, Cryptorchidism, Humeroradial synostosis, Short neck, Ov... |
ORPHA:3404 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr... |
ORPHA:93317 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Slender long bone, Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis, B... |
OMIM:618265 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Low-set ears, Small pituitary gland, Narrow chest, Dysgenesis of the cerebellar vermis, Thoracic ... |
OMIM:619479 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Cavernous hemangioma of the face, Right aortic arch, Supraumbilical raphe, Coarcta... |
OMIM:140850 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement, Stroke |
OMIM:617047 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Normocytic anemia, Gastrointestinal hemorrhage, Hypochromic anemia, Gastro... |
ORPHA:99147 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti... |
OMIM:620067 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Congenital hypoparathy... |
ORPHA:93324 |
Osteogenesis Imperfecta, Type Xv |
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Platyspondyly, Thin ribs, Hypoplasia of the pons, Cerebellar hypoplasia, Scoliosis |
OMIM:615220 |
Hereditary Acrokeratotic Poikiloderma |
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Xerostomia, Abnormality of the urethra, Hearing impairment, Dystrophic toenail, Camptodactyly of ... |
ORPHA:2907 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
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High anterior hairline, Dilated cardiomyopathy, Dry hair, Coarse hair, Myofiber disarray, Polyhyd... |
OMIM:620519 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal earlobe morpholog... |
ORPHA:2769 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Thin ribs, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Cryptorchidism, Penoscrotal... |
ORPHA:456328 |
Hyperthyroidism, Nonautoimmune |
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Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Fetal distress, Broad ribs, Joint swelling, Splenomegaly, Flaring of rib cage, Neutrophilia, Hepa... |
OMIM:612852 |
Arteriovenous Malformations Of The Brain |
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Cerebral arteriovenous malformation |
OMIM:108010 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Thin ribs, Decreased fibular diameter, Dysplasia of the femoral head, Genu valgum, Hepatomegaly, ... |
OMIM:619127 |
Atrial Septal Defect, Coronary Sinus Type |
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Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... |
ORPHA:99104 |
Kyphomelic Dysplasia |
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Platyspondyly, Low-set ears, Short femur, Thoracic hypoplasia, Radial bowing, Flared metaphysis, ... |
OMIM:211350 |
Xylt1-Cdg |
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Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Hirsutism, Short clavicles, Coxa valga,... |
ORPHA:370930 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Chiari malformation, Clinodactyly, Broad femoral neck, Broad rib... |
OMIM:600002 |
Kenny-Caffey Syndrome, Type 1 |
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Thin ribs, Small hand, Slender long bone, Congenital hypoparathyroidism, Anemia, Long clavicles, ... |
OMIM:244460 |
X-Linked Hypophosphatemia |
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Renal phosphate wasting, Shortening of the talar neck, Flattening of the talar dome, Rachitic ros... |
ORPHA:89936 |
Radio-Renal Syndrome |
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High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Abnormal form of the vertebral bo... |
ORPHA:3015 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Inguinal hernia, Short ribs... |
OMIM:271520 |
Osteopetrosis, Autosomal Recessive 7 |
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Optic atrophy, Recurrent pneumonia, Lateral ventricle dilatation, Optic nerve compression, Spleno... |
OMIM:612301 |
Duodenal Atresia |
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Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia, Abnormal... |
ORPHA:1203 |
Osteogenesis Imperfecta, Type Viii |
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Platyspondyly, Thin ribs, Radial bowing, Slender long bone, Femoral bowing, Inguinal hernia, Barr... |
OMIM:610915 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... |
OMIM:620189 |
Pearson Marrow-Pancreas Syndrome |
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Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous... |
OMIM:557000 |
Ileal Neuroendocrine Tumor |
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Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100078 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
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Macrodactyly, Lymphedema, Venous malformation, Varicose veins |
OMIM:613089 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
Mitchell-Riley Syndrome |
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Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Ascites, Ch... |
OMIM:615710 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid ca... |
OMIM:300952 |
Familial Gestational Hyperthyroidism |
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Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
Familial Cerebral Cavernous Malformation |
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Choroidal hemangioma, Neuroma, Meningioma, Venous malformation, Retinal cavernous hemangioma, Hem... |
ORPHA:221061 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairme... |
ORPHA:3109 |
Varicose Veins |
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Varicose veins |
OMIM:192200 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... |
ORPHA:90695 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
Familial Multinodular Goiter |
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Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
Distal Renal Tubular Acidosis |
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Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
Glomuvenous Malformation |
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Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Abn... |
ORPHA:83454 |
Martinez-Frias Syndrome |
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Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Glycogen Storage Disease Ib |
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Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Progressive congenital scoliosis, Platyspondyly, Thin ribs, Decreased urinary lysyl-pyridinoline-... |
OMIM:225400 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Toe syndactyly, Finger syndactyly, Cryptorchidism, Generalized hirsutism, Split hand, Abnormal ri... |
ORPHA:1300 |
Osteogenesis Imperfecta, Type Iv |
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Femoral bowing present at birth, straightening with time, Otosclerosis, Hearing impairment, Bicon... |
OMIM:166220 |
Atrial Septal Defect, Ostium Secundum Type |
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Pneumonia, Transient ischemic attack, Abnormal mitral valve morphology, Stroke, Right atrial enla... |
ORPHA:99103 |
Pyknoachondrogenesis |
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Low-set ears, Unossified sacrum, Short iliac bones, Horizontal ribs, Short ribs, Poorly ossified ... |
ORPHA:3003 |
Cowden Syndrome 7 |
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Trichilemmoma, Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Hem... |
OMIM:616858 |
Kindler Epidermolysis Bullosa |
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Inflammation of the large intestine, Finger syndactyly, Camptodactyly of finger, Short 5th metaca... |
ORPHA:2908 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
Watson Syndrome |
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Low-set ears, Pectus carinatum, Neurofibroma, Lisch nodules, Posteriorly rotated ears, Pulmonic s... |
OMIM:193520 |
Otosclerosis 7 |
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Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
Sacral Defect With Anterior Meningocele |
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Sacral lipoma, Absence of the sacrum, Hydromyelia, Urinary retention, Myelomeningocele, Myeloschi... |
OMIM:600145 |
Igg4-Related Submandibular Gland Disease |
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Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ... |
ORPHA:449432 |
Multiple Synostoses Syndrome 4 |
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Overlapping toe, Otosclerosis, Brachydactyly, Tarsal synostosis |
OMIM:617898 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
Otosclerosis 11 |
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Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
Pancreas, Annular |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Renal Cysts And Diabetes Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... |
OMIM:137920 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Neoplasm, Right atrial enlargement, Myeloproliferative disor... |
ORPHA:70591 |
Otosclerosis 4 |
|
Mixed hearing impairment, Otosclerosis |
OMIM:611571 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... |
OMIM:167800 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
Aprosencephaly Syndrome |
|
Finger aplasia, Aprosencephaly, Anencephaly |
OMIM:207770 |
Aprosencephaly And Cerebellar Dysgenesis |
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Bifid uvula, Cerebellar dysplasia, Aprosencephaly, Retinal dysplasia, Poorly formed metencephalon |
OMIM:601374 |