Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:3232 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... |
OMIM:128980 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Epicanthus, Micrognathia, Absent tr... |
ORPHA:79113 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Femoral-Facial Syndrome |
|
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Orofacial cleft, Hi... |
ORPHA:1988 |
Monosomy 9P |
|
Abnormal antihelix morphology, Epicanthus, Micrognathia, Synophrys, Short neck, Abnormal rib morp... |
ORPHA:261112 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Fused cervical vertebrae, Malar promin... |
ORPHA:2522 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Epicanthus, Blepharophimos... |
ORPHA:3236 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B... |
ORPHA:2554 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Butter... |
OMIM:611209 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Flared lower limb metaphysis, Downslanted palpebral fissures, Macrotia, Patent duct... |
OMIM:616462 |
Acrootoocular Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Epicanthu... |
ORPHA:2980 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Hypoplasia of the thymus, Blepharospasm, Wide nasal bridge, Microg... |
ORPHA:861 |
Nager Syndrome |
|
Non-midline cleft lip, Micrognathia, Phocomelia, Cleft palate, Hearing impairment, Atresia of the... |
ORPHA:245 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, M... |
OMIM:239800 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide n... |
OMIM:615546 |
Schwannomatosis 1 |
|
Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
Treacher Collins Syndrome 2 |
|
Retrognathia, Fusion of middle ear ossicles, Choanal stenosis, Conductive hearing impairment, Dow... |
OMIM:613717 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology,... |
ORPHA:3429 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Vesicoureteral reflux, Non-midline cleft lip, Conductive hearing impairment,... |
ORPHA:2549 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide nasal bridge, Epic... |
OMIM:601390 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Micrognathia, Hip dislocation, Dislocated radial head, Narrow grea... |
OMIM:602471 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Downslanted palpebral fissures, Pierre-Robin sequence, Wide mouth, Clinodactyly, Th... |
OMIM:619981 |
Johnson Neuroectodermal Syndrome |
|
Downslanted palpebral fissures, Conductive hearing impairment, Preaxial hand polydactyly, Hypogon... |
ORPHA:2316 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Hypoplasia of the cochlea, Renal dysplasia, Microdontia, Bifid uvu... |
OMIM:113650 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Choanal stenosis, Conductive hearing impairment, Microtia... |
OMIM:147770 |
Bor Syndrome |
|
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insuffic... |
ORPHA:107 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Underdeveloped nasal alae, Flexion contracture, High palate, Long philtr... |
OMIM:616549 |
Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Monosomy 22 |
|
Epicanthus, Synophrys, Prominent nasolabial fold, Hepatosplenomegaly, Short neck, Clubbing, Hypoc... |
ORPHA:96123 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Microdontia, Camptodact... |
OMIM:224690 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Epicanthus, M... |
ORPHA:2789 |
Chromosome 18Q Deletion Syndrome |
|
Conductive hearing impairment, Optic atrophy, Epicanthus, Toe syndactyly, Bifid uvula, Overlappin... |
OMIM:601808 |
Branchiooculofacial Syndrome |
|
Conductive hearing impairment, Micrognathia, Elbow flexion contracture, Supernumerary nipple, Sho... |
OMIM:113620 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... |
OMIM:221300 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal antihelix morphology, Camptodactyly of finger, Hypothyroidism, Abnormal nasolacrimal sys... |
ORPHA:3047 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... |
OMIM:618780 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Stapes ankylosis, Wide nasal bridge, Synophrys, Smooth ph... |
OMIM:614701 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hearing impairment, Unilateral renal agenesis |
OMIM:235740 |
Otofaciocervical Syndrome 1 |
|
Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Macrotia, Mandibular prognathia, Tapered finger, Wide nasal bridge, Abnormality of the kidney, Sh... |
ORPHA:521445 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Pseudoepiphyses, Wide nasal bridge, Epicanthus, Delayed skeletal m... |
OMIM:157800 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Dental malocclusion, Downslanted palpebral fissures, Conductive hearing impairment, Anotia, Joint... |
OMIM:608257 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, 2-3 toe syndactyly, Conductive hearing impairment, Wide nasal bridge, Selective to... |
OMIM:106260 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Underdeveloped nasal alae, Aplasia of the inner ear, Downslanted palpebral fissure... |
ORPHA:90024 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Downslanted palpebral fissures, Microtia, Ren... |
ORPHA:1770 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Epicanthus, Micrognathia, Slender finger, Cleft palate, Telecanthu... |
OMIM:610536 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Decreased circulating ... |
OMIM:146510 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Micrognathia, Thyroid hypoplasia, Postaxial hand polydactyly, Cleft palate, Orofacial cleft, Hypo... |
ORPHA:2166 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, Thyroid hypoplasia... |
OMIM:308050 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Wide nasa... |
ORPHA:1703 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... |
OMIM:610706 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Conductive hearing impairment, Missing rib... |
ORPHA:1488 |
Hemifacial Microsomia With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Conductive hearing impairment, Complete duplication o... |
OMIM:141400 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Macrotia, Conductive hearing impairment, High palate, Renal hypopl... |
ORPHA:2792 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... |
ORPHA:3216 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, E... |
OMIM:265000 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Anotia, Microtia, Micrognathia, Lymphopenia, Aplasia/Hypoplasia of the ... |
ORPHA:2306 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Short neck, Hypoparathyroidism, Depres... |
OMIM:618223 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Pectus excavatum, ... |
OMIM:268310 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... |
OMIM:609166 |
Pallister-Hall Syndrome |
|
Precocious puberty, Gonadotropin deficiency, Short 4th metacarpal, Renal dysplasia, Toe syndactyl... |
ORPHA:672 |
Mycophenolate Mofetil Embryopathy |
|
Anotia, Microtia, Foot polydactyly, Micrognathia, Bifid thoracic vertebrae, Bifid nose, Ectopic k... |
ORPHA:268249 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, Cupped ear, Hearing impairment, Hypoplasia of the cochlea |
OMIM:613398 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Micrognathia, Persistenc... |
OMIM:300946 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Tapered finger, Coxa valga, Abnormality of the middle ear ossicles... |
ORPHA:949 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... |
OMIM:601382 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Recurrent sinusitis, Supernumerary nipple... |
OMIM:213980 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal aortic arch morphology |
ORPHA:1455 |
Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Abnormality of the philtrum, Downslanted palpebral fissures, Mandibular prog... |
ORPHA:2673 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... |
OMIM:305620 |
Lambotte Syndrome |
|
Retrognathia, Macrotia, Convex nasal ridge, Preaxial foot polydactyly, Narrow mouth, Microcephaly... |
OMIM:245552 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti... |
OMIM:248910 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Micrognathia, Pectus excavatu... |
ORPHA:2990 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Abnormal shoulder morphology,... |
ORPHA:2345 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Micrognathia, Hip dis... |
OMIM:154400 |
Shashi-Pena Syndrome |
|
Epicanthus, Synophrys, Cupped ear, Posteriorly rotated ears, Accelerated skeletal maturation, Pto... |
OMIM:617190 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Branchiootic Syndrome |
|
Abnormal nasolacrimal system morphology, Conductive hearing impairment, Sensorineural hearing imp... |
ORPHA:52429 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Wide nasal bridge, Micrognathia, Short neck, Bone marrow hypocellularity, Depressed... |
OMIM:614083 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism, Convex nasal ridge, Synophrys, Smooth philtrum, Scapular winging, Lumbar hyperlor... |
OMIM:617796 |
Vacterl With Hydrocephalus |
|
Retrognathia, Microtia, third degree, Anotia, Esophageal atresia, Renal hypoplasia/aplasia, Micro... |
ORPHA:3412 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Epicanthus, Bifid uvula, Cupped ear, Hearing impairment, Short palpebral fissure,... |
OMIM:617159 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Spina bifida occulta, Abnormality of the ureter, Short neck... |
ORPHA:2311 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Conductive hearing impairment, Mandibular prognathia, ... |
OMIM:123500 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys, Pectus excavatum, ... |
ORPHA:1327 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Crossed fused renal ectopia, Microtia, Bifid nose, Median cleft li... |
ORPHA:2213 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Infantile sensorineural hearing impairment, Cerebral cortical atrophy, De... |
ORPHA:798 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... |
OMIM:618000 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Elbow dislocation... |
OMIM:108720 |
Kbg Syndrome |
|
Bilateral conductive hearing impairment, Synophrys, Cervical ribs, Short neck, Delayed skeletal m... |
ORPHA:2332 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis |
ORPHA:2669 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Cryptophthalmos, Abnormality of the anus, Midline nasal groove, Wi... |
OMIM:219000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Cleft... |
ORPHA:3320 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Short palm, Synophrys, Vel... |
OMIM:182290 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Epicanthus, Pectus excavat... |
ORPHA:915 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical ... |
OMIM:214300 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Neuroendocrine neoplasm, Car... |
ORPHA:100084 |
Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Micrognathia, Short palm, Blepharophimosis, Short nose, Cryptorchidism, Malar fla... |
ORPHA:171839 |
Koolen-De Vries Syndrome |
|
Hypothyroidism, Wide nasal bridge, Epicanthus, Microdontia, Hip dislocation, Pectus excavatum, Ev... |
ORPHA:96169 |
Renal Coloboma Syndrome |
|
Optic nerve dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Rena... |
ORPHA:1475 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy |
ORPHA:1513 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Wide nose, Esophageal atresia, Fused cervical vertebrae, Renal agenesis, Butterfly ... |
OMIM:619227 |
Apert Syndrome |
|
Conductive hearing impairment, Convex nasal ridge, Ectopic anus, Delayed eruption of teeth, Optic... |
ORPHA:87 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Abnormal cartilage col... |
ORPHA:485 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Oligodontia of primary teeth, Abnormality of the ankle, ... |
ORPHA:2010 |
Craniofacial Microsomia |
|
Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Cervical ribs, Cleft palate, A... |
OMIM:164210 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short palpebral fissure, Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of t... |
ORPHA:370010 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Bifid uvula, Overlapping toe, Limited elbow extension, Gingival overgrowth, Poster... |
OMIM:123790 |
Lamb-Shaffer Syndrome |
|
Decreased head circumference, Optic atrophy, Epicanthus, Thoracic kyphosis, Micrognathia, Fused c... |
ORPHA:530983 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Triphalangeal thumb, Downslanted palpebral fissures, Fin... |
ORPHA:2994 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Bell-shaped thorax, Conductive hearing impairment, Multicystic kidney dysplasia, Mye... |
ORPHA:1393 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Bifid uvula, Hip disloc... |
OMIM:613458 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Renal hypoplasia, Renal insufficiency, Hearing impairment, Hydronephrosis |
OMIM:615996 |
14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Epicanthus, Toe syndactyly, Micrognathia, Delayed skeletal maturation, Shor... |
ORPHA:264200 |
Radial-Renal Syndrome |
|
Ectopic kidney, External ear malformation, Unilateral renal agenesis |
OMIM:179280 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Conductive hearing impairmen... |
ORPHA:1826 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Conductive hearing impairment, Anemia, Reticulocytop... |
OMIM:613309 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Medial flaring of the eyebrow, Tapered finger, Cleft soft palate, Ischemic strok... |
OMIM:619503 |
Zttk Syndrome |
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Flexion contracture, Optic atrophy, Wide nasal bridge, Epicanthus, Broad eyebrow, Bifid uvula, Ce... |
OMIM:617140 |
Aorta Coarctation |
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Patent ductus arteriosus, Interrupted aortic arch, Pseudocoarctation of the aorta, Coarctation of... |
ORPHA:1457 |
Diamond-Blackfan Anemia 11 |
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Absent thumb, Abnormal eyelid morphology, Anemia, Neutropenia, Hypoplasia of the radius, Renal ag... |
OMIM:614900 |
Multiple Synostoses Syndrome 1 |
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Thick upper lip vermilion, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, B... |
OMIM:186500 |
6Q16 Microdeletion Syndrome |
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Retrognathia, Tapered finger, Microtia, Micrognathia, Abnormal thorax morphology, Macrocephaly, A... |
ORPHA:171829 |
Oculoauriculofrontonasal Syndrome |
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Underdeveloped nasal alae, Wide nose, Conductive hearing impairment, Encephalocele, Microtia, Mic... |
ORPHA:398156 |
Meier-Gorlin Syndrome 8 |
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Unilateral renal hypoplasia, Nephroptosis, Low-set ears, Microtia |
OMIM:617564 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Patent ductus arteriosus, Hearing abnormality, Abnormality of the knee, Deviation of finger, Depr... |
ORPHA:2412 |
Usher Syndrome Type 1 |
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Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231169 |
Wolf-Hirschhorn Syndrome |
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Optic atrophy, Wide nasal bridge, Epicanthus, Micrognathia, Abnormal lip morphology, Abnormal tho... |
ORPHA:280 |
Cryptorchidism, Unilateral Or Bilateral |
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Renal agenesis |
OMIM:219050 |
Non-Syndromic Genetic Deafness |
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Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis |
OMIM:184460 |
Isotretinoin Embryopathy-Like Syndrome |
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Micrognathia, Cleft palate, Anotia, Microtia |
OMIM:243440 |
Apert Syndrome |
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Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... |
OMIM:101200 |
Kbg Syndrome |
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Synophrys, Cervical ribs, Radial deviation of finger, Short neck, Delayed skeletal maturation, Ul... |
OMIM:148050 |
Doors Syndrome |
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Short 5th finger, Optic atrophy, Wide nasal bridge, Short lingual frenulum, Epicanthus, Adrenal h... |
ORPHA:79500 |
Aicardi Syndrome |
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Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Polymi... |
ORPHA:50 |
20P12.3 Microdeletion Syndrome |
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Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, Microtia, Epicanthus, Macroceph... |
ORPHA:261295 |
8Q22.1 Microdeletion Syndrome |
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Abnormal antihelix morphology, Camptodactyly of finger, Wide nasal bridge, Short neck, Sparse eye... |
ORPHA:178303 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Symphalangism, Proximal, 1A |
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Stapes ankylosis, Conductive hearing impairment |
OMIM:185800 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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2-3 toe syndactyly, Short 5th finger, Wide nasal bridge, Micrognathia, Abnormal optic disc morpho... |
ORPHA:508498 |
Catifa Syndrome |
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Mild microcephaly, Long philtrum, Delayed eruption of teeth, Microtia, Epicanthus, Camptodactyly,... |
OMIM:618761 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Conductive hearing impairment, Short 5th finger, Epicanthus, Pyloric stenosis, Congenital hip dis... |
OMIM:133705 |
16P13.11 Microdeletion Syndrome |
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Camptodactyly of finger, Metatarsus valgus, Cleft upper lip, Downslanted palpebral fissures, Sens... |
ORPHA:261236 |
Aortic Aneurysm, Familial Thoracic 8 |
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Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Renal Hypoplasia |
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Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
3Mc Syndrome 2 |
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Wide nasal bridge, Hip dislocation, Depressed nasal tip, Cleft palate, Hearing impairment, Blepha... |
OMIM:265050 |
Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Transposition of the great arteries, Right aortic arch |
OMIM:231060 |
Marshall-Smith Syndrome |
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Irregular dentition, Bilateral conductive hearing impairment, Hallux valgus, Microdontia, Synophr... |
OMIM:602535 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Overlapping toe, Short neck, Hearing i... |
ORPHA:505237 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
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Atresia of the external auditory canal, Conductive hearing impairment, Clinodactyly of the 5th fi... |
OMIM:221320 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Periventricular cysts, Tapered finger, Tapered toe, Hyperintensity of cerebral white matter on MR... |
ORPHA:544488 |
Frontonasal Dysplasia 1 |
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Conductive hearing impairment, Cranium bifidum occultum, Hypoplastic frontal sinuses, Wide nasal ... |
OMIM:136760 |
Distal Monosomy 17Q |
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Patent ductus arteriosus, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Deviation... |
ORPHA:1597 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Retrognathia, Downslanted palpebral fissures, High palate, Kyphosis, Micrognathia, Hip dysplasia,... |
OMIM:611890 |
Wilson-Turner Syndrome |
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Tapered finger, Small hand, Microtia, Micrognathia, Malar prominence, Thick eyebrow, Thin upper l... |
ORPHA:3459 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Patent ductus arteriosus, Levotransposition of the great arteries, Interrupted aortic arch, Coarc... |
ORPHA:860 |
Renpenning Syndrome |
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Epicanthus, Pectus excavatum, Broad columella, Abnormal rib morphology, Cleft palate, Round ear, ... |
ORPHA:3242 |
Fanconi Anemia, Complementation Group I |
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Vesicoureteral reflux, Hypothyroidism, Conductive hearing impairment, Decreased response to growt... |
OMIM:609053 |
Elsahy-Waters Syndrome |
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Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Synophrys, Bifid uvula, Pe... |
OMIM:211380 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... |
OMIM:118100 |
Focal Segmental Glomerulosclerosis 7 |
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Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Fetal Akinesia Deformation Sequence 4 |
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Retrognathia, Rocker bottom foot, 11 pairs of ribs, Prenatal death, High palate, Kyphosis, Wide n... |
OMIM:618393 |
Atresia Of External Auditory Canal And Conductive Deafness |
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Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... |
OMIM:108760 |
Frontometaphyseal Dysplasia 2 |
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Conductive hearing impairment, Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, ... |
OMIM:617137 |
Zechi-Ceide Syndrome |
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Conductive hearing impairment, Wide nasal bridge, Thin vermilion border, Cleft palate, Short palp... |
ORPHA:217017 |
Cerebrofaciothoracic Dysplasia |
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Cerebral cortical atrophy, Epicanthus, Synophrys, Short neck, Cleft palate, Thick eyebrow, Short ... |
ORPHA:1394 |
Waardenburg Syndrome, Type 2E |
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Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
Cornelia De Lange Syndrome |
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Conductive hearing impairment, Cerebral cortical atrophy, Delayed eruption of teeth, Toe syndacty... |
ORPHA:199 |
Robinow Syndrome |
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Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Pos... |
ORPHA:97360 |
Coxoauricular Syndrome |
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Reduced bone mineral density, Microtia, Hip dislocation, Abnormal pelvic girdle bone morphology, ... |
ORPHA:1508 |
Fraser Syndrome |
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Conductive hearing impairment, Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridg... |
ORPHA:2052 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
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Female infertility, Miscarriage |
OMIM:619176 |
Mullegama-Klein-Martinez Syndrome |
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Polydactyly, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Microtia, Promin... |
OMIM:301022 |
Distal Trisomy 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Lateral Meningocele Syndrome |
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Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
OMIM:130720 |
Diastrophic Dysplasia |
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Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... |
ORPHA:628 |
Robinow Syndrome, Autosomal Dominant 2 |
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Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... |
OMIM:616331 |
Diamond-Blackfan Anemia 7 |
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Triphalangeal thumb, Vesicoureteral reflux, Patent ductus arteriosus, Increased mean corpuscular ... |
OMIM:612562 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Unilateral renal agenesis, Hearing impairment, Primary amenorrhea, Hypogonadotropic hypogonadism,... |
OMIM:244200 |
Holoprosencephaly 9 |
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Prominent antihelix, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Bilateral ... |
OMIM:610829 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Choanal stenosis, Mandibular prognathia, Thickened ribs, Optic atrophy, Wide nasal bridge, Macroc... |
OMIM:122860 |
19P13.3 Microduplication Syndrome |
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Hip subluxation, Precocious puberty, Epicanthus, Micrognathia, Hip dislocation, Unilateral crypto... |
ORPHA:447980 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Arthrog... |
OMIM:243180 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
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Upslanted palpebral fissure, Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the ... |
OMIM:618737 |
Carpenter Syndrome 1 |
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Deviation of finger, Conductive hearing impairment, Precocious puberty, Lateral displacement of p... |
OMIM:201000 |
Lujan-Fryns Syndrome |
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Camptodactyly of finger, Macroorchidism, Aplasia/Hypoplasia of the corpus callosum, High palate, ... |
ORPHA:776 |
Holoprosencephaly 7 |
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Wide nasal bridge, Synophrys, Median cleft lip, Hypoplastic nasal septum, Depressed nasal tip, Cl... |
OMIM:610828 |
Ohdo Syndrome |
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Wide nasal bridge, Epicanthus, Micrognathia, Smooth philtrum, Hearing impairment, Blepharophimosi... |
OMIM:249620 |
Barber-Say Syndrome |
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Telecanthus, Aplasia/Hypoplasia of the eyebrow, Wide mouth, Delayed eruption of teeth, Wide nasal... |
ORPHA:1231 |
Chromosome 22Q11.2 Duplication Syndrome |
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Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel... |
OMIM:608363 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Optic atrophy, Renal dysplasia, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Type ... |
OMIM:236670 |
Holoprosencephaly 2 |
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Diabetes insipidus, Aplasia of the nasal bone, Cerebellar hypoplasia, Proboscis, Absent nasal sep... |
OMIM:157170 |
Tetraploidy |
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Convex nasal ridge, Radial club hand, Aplasia/Hypoplasia of the thymus, Micrognathia, Renal hypop... |
ORPHA:3305 |
Pfeiffer Syndrome Type 2 |
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Toe syndactyly, Tracheomalacia, Short hallux, Cleft palate, Choanal atresia, Atresia of the exter... |
ORPHA:93259 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Decreased... |
ORPHA:226307 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hip subluxation, Hypothyroidism, Conductive hearing impairment, Micrognathia, Synophrys, Subglott... |
ORPHA:444077 |
Femoral-Facial Syndrome |
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Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... |
OMIM:134780 |
Deafness, X-Linked 7 |
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Telecanthus, Wide nasal bridge, Ptosis, Stenosis of the external auditory canal, Thick eyebrow, H... |
OMIM:301018 |
Chops Syndrome |
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Patent ductus arteriosus, Vesicoureteral reflux, Splenomegaly, Long philtrum, Thickened helices, ... |
OMIM:616368 |
Craniosynostosis, Herrmann-Opitz Type |
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Abnormal antihelix morphology, Convex nasal ridge, Finger syndactyly, Microtia, Craniosynostosis,... |
ORPHA:2145 |
Wolf-Hirschhorn Syndrome |
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Periventricular cysts, Conductive hearing impairment, Convex nasal ridge, Precocious puberty, Wid... |
OMIM:194190 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h... |
OMIM:607872 |
Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Epicanthus, Toe syndactyly, Micrognathia, Abnormality of the ureter, Sho... |
ORPHA:3409 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
3-Hydroxyisobutyric Aciduria |
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Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:939 |
Ring Chromosome 8 Syndrome |
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Round ear, Epicanthus, Short nose, Abnormal palate morphology, Abnormality of the ureter, Antever... |
ORPHA:1450 |
Mosaic Trisomy 20 |
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Retrognathia, Vertebral fusion, Upslanted palpebral fissure, Kyphosis, Craniofacial asymmetry, Na... |
ORPHA:1724 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Macrocephaly, Shortening of all phalanges ... |
OMIM:601356 |
Microtia With Meatal Atresia And Conductive Deafness |
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Conductive hearing impairment, Wide mouth, Anotia, Microtia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Nabais Sa-De Vries Syndrome, Type 2 |
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Hypothyroidism, Sparse eyebrow, Multicystic kidney dysplasia, High palate, Prominent nose, Tapere... |
OMIM:618829 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Thick upper lip vermilion, Enlarged thorax, Multiple rows of eyelashes, Wide nasal bridge, Pectus... |
ORPHA:163654 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Conductive hearing impairment, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic ki... |
OMIM:601076 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Abnormal antihelix morphology, Metatarsus valgus, Conductive hearing impairment, Toe syndactyly, ... |
ORPHA:3082 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
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Renal hypoplasia, Low-set ears, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
Aredyld Syndrome |
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Upslanted palpebral fissure, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Abnormal t... |
ORPHA:1133 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... |
OMIM:601596 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Con... |
ORPHA:794 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Primary microcephaly, Prominent nasal tip, Prominent antihelix, Broad columell... |
ORPHA:293725 |
Craniometaphyseal Dysplasia |
|
Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hearing impairmen... |
ORPHA:1522 |
Trisomy 8P |
|
Conductive hearing impairment, Multiple joint contractures, Bifid uvula, Clinodactyly of the 5th ... |
ORPHA:264450 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Conductive hearing impairment, Microdontia, Abnormality of the wrist, Cleft palate, Abnormality o... |
ORPHA:1307 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, High palate, Tapered finger, Decreased testicular size, Macrocephaly, Cl... |
ORPHA:85279 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Cryptophthalmos, Wide mouth, Microtia, Toe sy... |
ORPHA:920 |
Sweeney-Cox Syndrome |
|
Asplenia, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Prominent metopic ridge, Uplift... |
OMIM:617746 |
Parasomnia, Sleep Bruxism Type |
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Bruxism |
OMIM:606840 |
Renal Hypodysplasia/Aplasia 3 |
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Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Cog1-Cdg |
|
Coxa valga, Wide nasal bridge, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Posterior r... |
ORPHA:263508 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Microdontia, Narrow pelvis bone, Delayed skeletal maturation, Limited elbow e... |
OMIM:210720 |
Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Con... |
OMIM:614188 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Radial club hand... |
ORPHA:3312 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Epicanthus, Micrognathia, Overlapping toe, Cleft vertebral arch, Cleft palate,... |
ORPHA:83617 |
Mandibulofacial Dysostosis With Alopecia |
|
Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima... |
OMIM:616367 |
Trisomy 20P |
|
Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Epicanthus, Micrognathia, M... |
ORPHA:261318 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Multicystic kidney dysplasia, Mi... |
ORPHA:261197 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Epicanthus, Toe syndactyly, Microdontia, Additional crus of... |
OMIM:620107 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Epicanthus, Spina bifida occulta... |
OMIM:607323 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Abnormal number of incisors, Prominent nose, Coxa valga, Patellar subluxation, Epic... |
ORPHA:2958 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Vesicoureteral reflux, Sensorineural hearing impairment, Patellar hypoplasia, Long ... |
ORPHA:464288 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Conductive hearing impairment, Wide nasal bridge, Delayed eruptio... |
ORPHA:2780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Acitretin/Etretinate Embryopathy |
|
High palate, Hypoplasia of the thymus, Abnormality of the calcaneus, Microtia, Bilateral sensorin... |
ORPHA:40366 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Urinary incontinence, Adult onset sensorineural hearing ... |
ORPHA:268882 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Epicanthus, Abnormal nasal bridge morphology, Abnormal shape of the palpebral ... |
ORPHA:363659 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Kyphosis, Delayed eruption of teeth, Microtia, Tongue atrop... |
OMIM:141300 |
Tarp Syndrome |
|
Optic atrophy, Wide nasal bridge, Micrognathia, Prominent antihelix, Pectus excavatum, Abnormal c... |
OMIM:311900 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Optic n... |
ORPHA:85284 |
Acrocephalopolydactyly |
|
Thoracic hypoplasia, Depressed nasal ridge, Microtia, Short long bone, Epicanthus, Short nose, He... |
ORPHA:221054 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... |
ORPHA:90652 |
Baller-Gerold Syndrome |
|
Absent thumb, Conductive hearing impairment, Optic atrophy, Aplasia of metacarpal bones, Epicanth... |
OMIM:218600 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Trisomy 13 |
|
Abnormal antihelix morphology, Optic atrophy, Median cleft lip, Abnormality of the ureter, Abnorm... |
ORPHA:3378 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Downslanted palpebral fissures, Long philtrum, Microtia, Micrognathia, Synophrys, Clin... |
ORPHA:357175 |
Wildervanck Syndrome |
|
Abnormality of the outer ear, Fused cervical vertebrae, Pseudopapilledema, Hearing impairment |
OMIM:314600 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, Conductive hearing impairment, High palate, Apla... |
OMIM:603457 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Cleft upper lip, Abno... |
OMIM:312150 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Downslanted palpebral fissures, Long philtrum, Microtia, Micrognathia, Synophrys, Clin... |
OMIM:615162 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Flexion contracture, Hyperintensity of cerebral white matter on MRI, Broad ... |
ORPHA:481152 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating creatinine co... |
OMIM:617872 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... |
ORPHA:2547 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormality of somatosen... |
ORPHA:320401 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pituitary gland,... |
ORPHA:93932 |
Chromosome 16Q22 Deletion Syndrome |
|
Wide nasal bridge, Epicanthus, Micrognathia, Broad hallux, Short neck, Prominent metopic ridge, P... |
OMIM:614541 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Thoracic hypoplasia, Cleft soft palate, Epicanthus, Micrognathia, ... |
OMIM:117650 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
Microtia |
|
Hypoplastic helices, Anotia, Microtia, Abnormal pinna morphology, Atresia of the external auditor... |
ORPHA:83463 |
X-Linked Intellectual Disability, Van Esch Type |
|
Retrognathia, Microtia, Coronal craniosynostosis, Type II diabetes mellitus, Decreased testicular... |
ORPHA:163976 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Upslanted palpebral fissure, Short thorax, Wide nasal bridge, Vertebral segmentati... |
ORPHA:1797 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Abnormal eyelash m... |
ORPHA:193 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Upslanted palpebral fissure, Microretrognathia, Hypospadias, Abnorma... |
ORPHA:276422 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Macrotia, Hypospadias, Abnormality of the ureter, Abnormality of tibia morphology,... |
ORPHA:2487 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Downslanted palpebral fissures, Conductive hearin... |
ORPHA:246 |
Schilbach-Rott Syndrome |
|
Prominent nose, Microtia, Epicanthus, Micrognathia, Blepharophimosis, Bifid uvula, Submucous clef... |
OMIM:164220 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, High palate, Upper e... |
ORPHA:293939 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Global brain atrophy, Absent thumb, Patent ductus arteriosus after birth at term, Ischemic stroke... |
ORPHA:500150 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Micrognathia, Abnormality of the ureter, Abnormal intestine morphology... |
ORPHA:1834 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Vesicoureteral reflux, Optic atrophy, Clinodactyly, Short nose, Hypoplasia of the maxi... |
OMIM:614261 |
Ohdo Syndrome, X-Linked |
|
Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Overlapping toe, Smooth philtrum, Heari... |
OMIM:300895 |
Treacher Collins Syndrome 1 |
|
Downslanted palpebral fissures, Lacrimal duct stenosis, Conductive hearing impairment, Cleft soft... |
OMIM:154500 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... |
OMIM:613854 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Cousin Syndrome |
|
Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia... |
OMIM:260660 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Overriding aorta, Vascular ring |
OMIM:601927 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Abnormal peripheral action potential amplitude, Abnormality of... |
ORPHA:90117 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Cupped e... |
OMIM:156200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Skeletal muscle atrophy, Vascular ring |
OMIM:603387 |
Kapur-Toriello Syndrome |
|
Atresia of the external auditory canal, Patent ductus arteriosus, Hypoplasia of penis, Polymicrog... |
ORPHA:2328 |
Coffin-Lowry Syndrome |
|
Cerebral cortical atrophy, Tapered finger, Optic atrophy, Delayed eruption of teeth, Epicanthus, ... |
ORPHA:192 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hearing impairment, Atresia of the external auditory canal |
ORPHA:3023 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Epicanthus, Micrognathia, Tracheomalacia, Me... |
OMIM:212720 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Synophrys, Periventricular leukomalacia, Broad eyebrow, Narrow palpebral fissu... |
OMIM:618302 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Epicanthus, Synophrys, ... |
ORPHA:3268 |
Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Increased bone mineral density, Elbow dislocation... |
ORPHA:90650 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Broa... |
ORPHA:439822 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Patellar dislocation, Apl... |
ORPHA:2916 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal ... |
ORPHA:3258 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Decreased response to growth hormone stimulation test, Microtia, Micrognathia, Bilateral cryptorc... |
OMIM:618336 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Aplasia/Hypoplasia of the corpus callosum, ... |
ORPHA:1926 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, P... |
OMIM:608572 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Conductive hearing impairment, Precocious puberty, Wide nasal bridge, Toe syndact... |
ORPHA:819 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Downslanted palpebral fissures, Pectus carinatum, Hypoplasia of penis, Craniofacia... |
ORPHA:3068 |
Auriculocondylar Syndrome |
|
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle... |
ORPHA:137888 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Downslanted palpebral fissures, Genu valgum, Convex nasal ridge, High palate, Arachnodactyly, Abn... |
ORPHA:1035 |
Even-Plus Syndrome |
|
Vertebral clefting, Vesicoureteral reflux, High palate, Depressed nasal ridge, Microtia, Recurren... |
OMIM:616854 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Low-set ears, Neona... |
OMIM:236500 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Conductive hearing impairment, Sensorineural hearing impairment, Hallux valgu... |
OMIM:135100 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Koolen-De Vries Syndrome |
|
Epicanthus, Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Anteverted ears, Slen... |
OMIM:610443 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In... |
ORPHA:90674 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Macrocephaly, Bulbous nose... |
ORPHA:2180 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis |
OMIM:618845 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Conductive hearing impairment, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radia... |
OMIM:182212 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Recurrent urinary tract infections, Malabsorption, Coombs-posi... |
ORPHA:83471 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadism, Unilateral renal agenesis, Abnormal repetitive m... |
ORPHA:3306 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Broad hallux, Absent uvula, Gi... |
OMIM:618529 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Patellar aplasia, Long philtrum, Microtia, Micrognathia, Slender long bone, Clinod... |
OMIM:613805 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Arterial fibromuscular dysplasia, Stroke |
OMIM:135580 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split han... |
OMIM:246560 |
Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Hooded upper eyelid, ... |
OMIM:619941 |
Au-Kline Syndrome |
|
Lagophthalmos, Bifid tongue, Coxa valga, Bifid uvula, Supernumerary nipple, Pectus excavatum, Ove... |
OMIM:616580 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Macrotia, Mandibular prognathia, Decreased testicular size, Anal atresia, Hypoplasia of the maxil... |
ORPHA:93950 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Tibial deviation of the... |
ORPHA:363417 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Metatarsus adductus, Pectus excavatum, Hearing impairment, Posteriorly rotated ear... |
OMIM:227330 |
Nablus Mask-Like Facial Syndrome |
|
Tapered finger, Wide nasal bridge, Camptodactyly, Everted lower lip vermilion, Short hallux, Shor... |
OMIM:608156 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Micrognathia, Lop ear, Metatarsus adductus, Overlapping toe, Cleft pal... |
ORPHA:436003 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Conductive hearing im... |
OMIM:618175 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Vascular ring, Coarctation of aorta |
OMIM:616954 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Anterior rib cupping, Horizontal inferior border of scapula, B lymphocytopenia, Growth arrest lin... |
OMIM:102700 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Aplasia/Hypoplasia involving the nose, S... |
ORPHA:1529 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-vent... |
ORPHA:3400 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, High palate, Epicanthus, Thick lower lip vermilion, Synophrys, Bif... |
OMIM:617412 |
1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Conductive hearing impai... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, Micrognathia, Pectus excavatum, Smooth philtrum, Furrowed tongue, Thick eyeb... |
OMIM:300534 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... |
OMIM:602450 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Asymmetric Short Stature Syndrome |
|
Convex nasal ridge, Lumbar scoliosis, Micrognathia, Fused cervical vertebrae, Dental crowding |
OMIM:108450 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Delayed skele... |
OMIM:170390 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Wide nasal bridge, Pectus excavatum, Radial deviation of finger, Short neck, Cu... |
OMIM:305400 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Seckel Syndrome 5 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Delayed skeletal maturation, Cleft pa... |
OMIM:613823 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ... |
ORPHA:1452 |
Isotretinoin Syndrome |
|
Sacral dimple, Microtia, Micrognathia, Biparietal narrowing, Abnormality of the outer ear, Spina ... |
ORPHA:2305 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Macrotia, High palate, Tapered finger, Wide nasal bridge, Flexion contracture... |
OMIM:218000 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatin... |
ORPHA:2790 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Conductive hearing impairment, Bilateral choanal atresia/stenosis, Wide nasa... |
ORPHA:314679 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Hearing im... |
OMIM:178110 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Macrotia, Unilateral renal agenesis |
OMIM:618504 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Epicanthus, Radial deviation of finger, Posteriorly rotated ears, Red... |
OMIM:301040 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Distal Tetrasomy 15Q |
|
Flexion contracture, Micrognathia, Camptodactyly, Cupped ear, Telecanthus, Nephroblastoma, Polycy... |
ORPHA:314588 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Interrupted... |
OMIM:618300 |
Malan Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Coxa valga, Advanced eruptio... |
OMIM:614753 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Synophrys, Abnormality of the ureter, Bilateral ... |
ORPHA:3253 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis m... |
OMIM:615993 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia, Abnormality of the wrist, Irregular acetabular roof, Abnormal me... |
ORPHA:93316 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Underdeveloped nasal alae, Congenital pyloric atresia, Flexion contracture, Microtia, Macrocephal... |
OMIM:612138 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Conductive hearing impairment, Convex nasal ridge, Optic at... |
ORPHA:93262 |
Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Polymi... |
OMIM:304050 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Downslanted palpebral fissures, Tapered finger, Long philtrum, Small hand, Microtia, Macrocephaly... |
OMIM:618089 |
Toluene Embryopathy |
|
Short palpebral fissure, Tapered finger, Epicanthus, Micrognathia, Biparietal narrowing, Short no... |
ORPHA:1920 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Epicanthus, Bifid uvula, Short neck, Smooth philtrum, Arthrogryposis multiplex congenita, Rocker ... |
OMIM:618622 |
Aminopterin Syndrome Sine Aminopterin |
|
Micrognathia, Megalencephaly, Cleft palate, Posteriorly rotated ears, Microcephaly, Cryptorchidis... |
OMIM:600325 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pu... |
OMIM:616749 |
Distal Monosomy 10P |
|
Hearing abnormality, Non-midline cleft lip, Macrotia, Convex nasal ridge, Abnormality of the elbo... |
ORPHA:1580 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair... |
OMIM:300373 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Micrognathia, Abnormally folded helix, Pectus excavatum, Hyperextensibility ... |
OMIM:309520 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Downslanted palpebral fissures, Conductive hearing impairment, Mic... |
ORPHA:3145 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Microtia, Cervical ribs, Pectus excavatum, Ptosis, Short neck, Micr... |
OMIM:609654 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Optic nerve dysplasia, Upslanted palpebral fissure, Hypoplasia of the thymus, Join... |
OMIM:214110 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Epicanthus, Toe syndactyly, Supernumerary nipple, Pec... |
ORPHA:373 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Microtia, Prominent nasal bridge, Micrognathia, Prominent nasal tip, Epicanthus, Short philtrum, ... |
OMIM:619873 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Epiblepharon, Microcephaly, Cryptorchidism, Bulbous nose, Downslanted palp... |
OMIM:619103 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Delayed skeletal maturation, Abnormal form of the vertebra... |
ORPHA:1458 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Macrotia, Wide mouth, O... |
ORPHA:1636 |
Kagami-Ogata Syndrome |
|
Retrognathia, Short palpebral fissure, Patent ductus arteriosus, Flexion contracture, Coxa valga,... |
OMIM:608149 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Abnormal metaphysis morphology, Narrow chest, Micrognathia, Short philtrum, Do... |
ORPHA:93267 |
Myhre Syndrome |
|
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Radial deviation of finger, Short neck, Cleft... |
OMIM:139210 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal lower lip morphology, Cerebral cortical atrophy, Renal hypoplasia... |
ORPHA:1166 |
Pycnodysostosis |
|
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... |
ORPHA:763 |
Dubowitz Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Toe syn... |
ORPHA:235 |
Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Downslanted palpebral fissures, Cleft soft palate, Cutaneous finger syndactyl... |
OMIM:606851 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Pectus excavatum, Cleft palate, Microcephaly, Cryptorchidism, Upslanted pal... |
OMIM:612530 |
Wildervanck Syndrome |
|
Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Congenital sensorineural he... |
ORPHA:3456 |
Branchioskeletogenital Syndrome |
|
Synophrys, Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Telecanth... |
ORPHA:1299 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Tapered finger, Wide nasal bridge, Synophrys, Gingival overgrowth, Thin corpus callosum, Hip dysp... |
OMIM:616977 |
Crouzon Syndrome |
|
Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Narrow palate, Opt... |
ORPHA:207 |
17Q24.2 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Wide nasal bridge, Pineal cyst, Micrognathia, Synop... |
ORPHA:529962 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Thick upper lip vermilion, Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Wid... |
OMIM:611717 |
Meier-Gorlin Syndrome 6 |
|
Conductive hearing impairment, Delayed skeletal maturation, Cleft palate, Posteriorly rotated ear... |
OMIM:616835 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... |
ORPHA:1435 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Sensorineural hearing impairment, High palate, Long philtrum, Microtia, Pro... |
OMIM:154230 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Heterotaxy, Visceral, 4, Autosomal |
|
Transposition of the great arteries, Bilateral superior vena cava, Total anomalous pulmonary veno... |
OMIM:613751 |
Acrofacial Dysostosis, Catania Type |
|
Pectus excavatum, Spina bifida occulta, Tooth agenesis, Delayed skeletal maturation, Smooth philt... |
ORPHA:1786 |
Familial Aortic Dissection |
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Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Hypsarrhythmia, Unilateral renal agenesis, Recurrent otitis media, Renal hypoplasia, Low-set ears... |
OMIM:618494 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Prominent nose, Wide anteri... |
OMIM:614886 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Vesicoureteral reflux, Bifid ureter, Hypoplastic helices, Thickened helices, Renal dysplasia, Mic... |
OMIM:617641 |
Orofaciodigital Syndrome Xvii |
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Renal hypoplasia, Low-set ears, Hearing impairment, Micropenis |
OMIM:617926 |
Cowden Syndrome 5 |
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Hypothyroidism, Colonic diverticula, Furrowed tongue, Kyphosis, High palate, Hyperthyroidism, Mic... |
OMIM:615108 |
Mosaic Trisomy 8 |
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Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Narrow pelvis bone, Short n... |
ORPHA:96061 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Truncus arteriosus, Interrupted aortic arch, Persistent left superior vena cava, Partial anomalou... |
OMIM:617478 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Syn... |
OMIM:616734 |
Tetraamelia-Multiple Malformations Syndrome |
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Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Optic atrophy, Microtia, Sep... |
ORPHA:3301 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
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Umbilical hernia, Downslanted palpebral fissures, Genu valgum, Mandibular prognathia, Wide nasal ... |
ORPHA:1778 |
Lowry-Maclean Syndrome |
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Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta... |
ORPHA:2409 |
Van Den Ende-Gupta Syndrome |
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Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
Igg4-Related Aortitis |
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Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
Opitz-Kaveggia Syndrome |
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Delayed closure of the anterior fontanelle, Multiple joint contractures, Epicanthus, Micrognathia... |
OMIM:305450 |
Thakker-Donnai Syndrome |
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Macrotia, Agenesis of corpus callosum, Bulbous nose, Anal atresia, Long palpebral fissure, Trache... |
ORPHA:1780 |
Craniofacioskeletal Syndrome |
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Hypoplastic frontal sinuses, Micrognathia, Cleft palate, Short palm, Posteriorly rotated ears, Ch... |
OMIM:300712 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Epicanthus, Narrow pelvis bone, Overlapping toe, Short neck, Delayed skeletal maturation, Short f... |
OMIM:616723 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Macrotia, Crossed fused renal ectopia, Unilateral renal agenesis, Low-set ears, Micropenis |
OMIM:618142 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Sacral dimple, Downslanted palpebral fissures, Mandibular prognathia, Tapered finger, Wide nasal ... |
OMIM:613603 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Hypothyroidism, Epicanthus, Microdontia, Supernumerary nipple, Pectus excavatum, Cleft palate, Ab... |
ORPHA:1812 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
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Abnormal antihelix morphology, Camptodactyly of finger, Wide nasal bridge, Micrognathia, Telecant... |
ORPHA:1968 |
Schwartz-Jampel Syndrome |
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Metatarsus valgus, Wrist flexion contracture, Blepharospasm, Coxa valga, Micrognathia, Increased ... |
ORPHA:800 |
Truncus Arteriosus |
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Abnormal superior vena cava morphology, Patent ductus arteriosus, Truncus arteriosus, Anomalous o... |