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 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Conductive Deafness-Malformed External Ear Syndrome |
|
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... |
ORPHA:3216 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... |
ORPHA:79113 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... |
ORPHA:52429 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Glossopharyngeal Neuralgia |
|
Mandibular pain, Odynophagia, Cranial nerve compression, Feeding difficulties, Oral-pharyngeal dy... |
ORPHA:221098 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... |
OMIM:185800 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Glossoptosis, Retrognathia, Micrognathia, Bilateral cond... |
OMIM:615706 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Trisomy 8Q |
|
Myelomeningocele, High palate, Protruding ear, Cleft palate, Everted lower lip vermilion, Microgn... |
ORPHA:1752 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules, Low-set ears |
OMIM:258850 |
Deafness-Craniofacial Syndrome |
|
Sensorineural hearing impairment, Abnormality of the dentition, Short philtrum, Bifid tongue, Sho... |
ORPHA:3241 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal m... |
OMIM:614701 |
Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... |
OMIM:614669 |
Mohr Syndrome |
|
High palate, Conductive hearing impairment, Hydrocephalus, Agenesis of central incisor, Accessory... |
OMIM:252100 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... |
OMIM:184460 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Cleft palate, Glossoptosis, Micrognathia, Pie... |
OMIM:311895 |
Frontorhiny |
|
Congenital conductive hearing impairment, Basal encephalocele, Cleft palate, Camptodactyly of fin... |
ORPHA:391474 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:261800 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Cleft Velum |
|
Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Hypo... |
ORPHA:99772 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Microretrognathia, Cleft palate, Bifid tongue, Cerebellar hypoplasia, Lobulated ton... |
OMIM:616300 |
Orofaciodigital Syndrome V |
|
High palate, Low-set ears, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue,... |
OMIM:174300 |
Bilateral Polymicrogyria |
|
Facial diplegia, Sensorineural hearing impairment, Wide mouth, Pseudobulbar paralysis, Feeding di... |
ORPHA:268940 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Cleft palate, Stenosis of the external auditory canal, Re... |
ORPHA:107 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue, Low-set, posteriorly rotated ears, ... |
ORPHA:2167 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, High palate, Hydrocephalus, Cleft upper lip, Alveolar ridge overgrowth, Supernu... |
OMIM:311200 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate |
ORPHA:718 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Abnormal helix morphology, Infantile sensorineural hearing impairment, S... |
ORPHA:798 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... |
OMIM:611369 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... |
ORPHA:2549 |
Periventricular Nodular Heterotopia 7 |
|
Flexion contracture, Cleft palate, Micrognathia, Optic atrophy, Hearing impairment |
OMIM:617201 |
Orofaciodigital Syndrome Xiv |
|
Abnormal pinna morphology, Supernumerary tooth, Microretrognathia, Cleft palate, Holoprosencephal... |
OMIM:615948 |
Microtia |
|
Abnormal pinna morphology, Microtia, Holoprosencephaly, Anotia, Atresia of the external auditory ... |
ORPHA:83463 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Gingival overgrowth, Wide anterior fontanel, Triangular mouth, Absent uvula, Macroglo... |
OMIM:268310 |
Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Triangular mouth, Delayed eruption of teeth, Umbilical hernia, Retrognathia, Microgn... |
OMIM:180700 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Cleft palate |
ORPHA:2015 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Low-set ears, Arthrogryposis multiplex congenita, Cleft palate |
OMIM:616570 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip and palate |
ORPHA:2001 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Tooth agenesis, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Tooth agenesis, ... |
ORPHA:352665 |
Tick-Borne Encephalitis |
|
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Anorexia, Vomi... |
ORPHA:297 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal palate morphology... |
ORPHA:3236 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Abnormality of the dentition, Short philtrum, Tented upper lip vermilion, Umbilical h... |
ORPHA:1507 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Abnormality of the dentition, Oral cleft, Hearing impairment, Morph... |
OMIM:182290 |
Catel-Manzke Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Camptodactyly of finger, Chronic otitis media, Low-set,... |
ORPHA:1388 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Low-set ears, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognat... |
OMIM:616894 |
Auriculocondylar Syndrome 1 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Cleft palate, Glos... |
OMIM:602483 |
Weaver-Williams Syndrome |
|
Narrow mouth, Protruding ear, Cleft palate |
ORPHA:3448 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial palsy |
OMIM:155900 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Conductive hearing impairment, Protruding ear, Agenesis of central incisor, Taurodon... |
ORPHA:2751 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear |
OMIM:248390 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Cleft Lip With Or Without Cleft Palate |
|
Submucous cleft of soft and hard palate, Non-midline cleft lip, Non-midline cleft palate, Recurre... |
ORPHA:1991 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Hearing impairment, Velopharyngeal insufficiency |
ORPHA:2291 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Bilateral conductive hearing impairment, Oligodontia of primary teeth, Cl... |
OMIM:216300 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate, Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing ... |
OMIM:612290 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, Conductive hearing impairment, Stapes ankylosis, Carpal synostosis, Di... |
OMIM:186500 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Osteoarthritis, Long ... |
ORPHA:166100 |
Robinow Syndrome |
|
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... |
ORPHA:97360 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Dysphagia, Abnormal peripheral action potential amplitu... |
ORPHA:90117 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
Smith-Lemli-Opitz Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary ... |
ORPHA:818 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Sensorineural hearing impairment, Bifid uvula, Cleft palate |
OMIM:618768 |
Autosomal Dominant Robinow Syndrome |
|
Low-set ears, Anodontia, Gingival overgrowth, Supernumerary tooth, High, narrow palate, Hypodonti... |
ORPHA:3107 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Temple Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Micrognathia, Short philtrum, Bifi... |
OMIM:616222 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Cleft palate, Camptodactyly of finger, Tr... |
ORPHA:916 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Dysphagia, Facial palsy, Velopharyngeal insufficiency |
OMIM:617732 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Bifid uvula |
ORPHA:2669 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypodontia, Abnormal Eustachian tube... |
ORPHA:199302 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
High palate, Wide mouth, Abnormal pinna morphology, Macroglossia, Short philtrum, Dysphagia, Elbo... |
ORPHA:280384 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... |
OMIM:141400 |
Abruzzo-Erickson Syndrome |
|
Hearing impairment, Protruding ear, Cleft palate, Macrotia |
OMIM:302905 |
Lateral Meningocele Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2789 |
Craniosynostosis And Dental Anomalies |
|
High palate, Conductive hearing impairment, Stapes ankylosis, Dental malocclusion, Narrow palate,... |
OMIM:614188 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Micrognathia, Cleft palate, Microtia |
OMIM:613717 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Cleft palate, Microtia |
OMIM:243440 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Cleft palate, Micro... |
OMIM:113650 |
Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... |
ORPHA:137888 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Hearing impairment, Bifid uvula |
OMIM:256200 |
Fraser Syndrome |
|
Myelomeningocele, Conductive hearing impairment, High palate, Cleft upper lip, Abnormality of the... |
ORPHA:2052 |
Carey-Fineman-Ziter Syndrome 2 |
|
Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Abnormal skeletal muscle morph... |
OMIM:619941 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Micrognathia, Cleft palate |
ORPHA:3104 |
X-Linked Intellectual Disability, Abidi Type |
|
Hearing impairment, Protruding ear, Cleft palate, Non-midline cleft lip |
ORPHA:85273 |
Lateral Meningocele Syndrome |
|
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
OMIM:130720 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Supernumerary tooth, Microretrognathia, Cleft palate, Bifid tongue, Dila... |
ORPHA:434179 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Tongue atrophy |
OMIM:141300 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... |
OMIM:619110 |
Microtia-Anotia |
|
Microtia, Anotia, Holoprosencephaly |
OMIM:600674 |
Chromosome 15Q14 Deletion Syndrome |
|
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion,... |
OMIM:616898 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodact... |
OMIM:246560 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Sensorineural hearing impairment, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Sca... |
OMIM:158900 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Gingival overgrowth, Protruding ear, Cleft palate, Micrognathia, Macrotia, Skeletal muscle atrophy |
ORPHA:2013 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip vermilion, Glossop... |
OMIM:616367 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Microglossia, Temporomandibular joint ankylosis, Cleft palate |
ORPHA:141152 |
Orofaciodigital Syndrome Vi |
|
High palate, Conductive hearing impairment, Cleft upper lip, Accessory oral frenulum, Cleft palat... |
OMIM:277170 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment, Dentinogenesis imperfecta |
OMIM:166220 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Facial palsy, ... |
OMIM:601596 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Camptodactyl... |
OMIM:618761 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Abnormality of the ear, Hypodontia, Cleft palate, Microdontia, Abnorm... |
OMIM:225000 |
Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Cleft palate, Anencephaly, Bifid uvula, Dilated fourth ventricle, Camp... |
OMIM:614175 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Acetabular spurs, Anal atresia, Cleft palate, Intestinal malrotation, Bifid tong... |
OMIM:613091 |
Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Arthrogryposis mult... |
OMIM:201550 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Thin vermilion border, Overfolded helix, Camptodactyly of finger, Retrognathia, Low... |
ORPHA:2631 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Micrognathia, Cleft palate |
OMIM:618939 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Glossoptosis, Micrognathia, Bilateral cleft lip, Ankyloglossia, Low-set ears |
OMIM:618021 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:607842 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Abnormal helix morphology, Cleft palate, Microtia, Thin vermilion ... |
ORPHA:217017 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Lower limb amyotrophy, Knee flexion contracture, Tongue atrophy, Upper limb amyotrophy, Proximal ... |
ORPHA:496689 |
Distal Monosomy 15Q |
|
Low-set ears, Congenital diaphragmatic hernia, Cleft palate, Abnormality of the dentition, Short ... |
ORPHA:1596 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Flexion contracture, Cleft palate, Micrognathia, Tented upper lip vermilion, Low-set... |
OMIM:618388 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Micrognathia, Abnormality of the ear, Cleft palate |
OMIM:183700 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration |
OMIM:601369 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment, Dentinogenesis imperfecta |
OMIM:166200 |
Myopathy, Congenital, Bailey-Bloch |
|
High palate, Conductive hearing impairment, Cleft palate, Flexion contracture, Micrognathia, Down... |
OMIM:255995 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Low-set ears, Temporomandibular joint ankylosis, High, narrow palate, Micrognathia, ... |
ORPHA:2872 |
Chand Syndrome |
|
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... |
ORPHA:1401 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Uplifted earlobe, Bifid uvula, Downturned corners of mouth, Esophageal a... |
OMIM:618779 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Diprosopus |
|
External ear malformation, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Retrognathia, Atresia of the external auditory canal, Pierre-Robin sequ... |
OMIM:619981 |
Lambotte Syndrome |
|
Atresia of the external auditory canal, Macrotia, Semilobar holoprosencephaly |
OMIM:245552 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Protruding ear, Thin vermilion border, Short philtrum, Bifid uvula, Cerebellar hypoplasia, Deep p... |
OMIM:618622 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Micrognathia, Long philtrum, Camptodactyly, Whistling appearance, Elbo... |
OMIM:277720 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... |
ORPHA:2792 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Protruding ear, Narrow mouth, Cleft palate, Thin ... |
OMIM:608572 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Amyotrophy, Hereditary Neuralgic |
|
Narrow mouth, Cleft palate, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus ... |
OMIM:162100 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Holoprosencephaly, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cer... |
ORPHA:990 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Facial diplegia, Protruding ear, Narrow mouth, Hip contracture, Retrognathia, Left v... |
ORPHA:169186 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal antihelix morphology, High palate, Tooth malposition, Everted lower lip vermilion, Micro... |
ORPHA:1387 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Dysphagia, T... |
ORPHA:576283 |
Viss Syndrome |
|
High palate, Chronic gastritis, Broad uvula, Contracture of the proximal interphalangeal joint of... |
OMIM:619472 |
Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Narrow palate, Cerebellar hypoplasia, Optic atrophy... |
ORPHA:207 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing ... |
OMIM:214300 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Stenosis of th... |
OMIM:608257 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Conductive hearing impairment, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Fac... |
ORPHA:2780 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Abnormal pinna morphology, Triangular mouth, Cleft palate, Short philtru... |
OMIM:200990 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Wide anterior fontanel |
OMIM:601356 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Opticocochleodentate Degeneration |
|
Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Cleft palate, Macrotia |
OMIM:221950 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Tooth malposition, Microtia, Micrognathia, Short philtrum, Recurrent otitis media, ... |
ORPHA:529962 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Micrognathia, Low-set ears, Cleft palate |
OMIM:231060 |
Hypoglossia With Situs Inversus |
|
High palate, Low-set ears, Narrow mouth, Hypodontia, Micrognathia, Microglossia |
OMIM:612776 |
Isolated Childhood Apraxia Of Speech |
|
Overfolded helix, High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Micrognathia, Microdontia, Widely spaced teeth,... |
OMIM:610706 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
ORPHA:2213 |
Coxoauricular Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Microtia |
ORPHA:1508 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Low-set ears |
OMIM:609654 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... |
ORPHA:2010 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Cleft lip, Bro... |
ORPHA:398156 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Cleft palate, Microtia, Micrognathia, Anotia, Aplasia/Hypoplasia of the inner ear,... |
ORPHA:2306 |
Hydrolethalus |
|
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Low-set, po... |
ORPHA:2189 |
Trisomy 8P |
|
Conductive hearing impairment, Hydrocephalus, Multiple joint contractures, Cleft palate, Thin ver... |
ORPHA:264450 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Cleft palate, Everted lower lip vermilion, Microdontia, Dela... |
OMIM:619736 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Cleft palate, Microtia, Micrognathi... |
ORPHA:246 |
Moebius Syndrome |
|
High palate, Facial diplegia, Abnormal pinna morphology, Abnormality of the dentition, Micrognath... |
OMIM:157900 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Conductive hearing impairment, Supernumerary tooth, Thin vermilion border, Overfolde... |
OMIM:617412 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Delayed eruption of teeth,... |
ORPHA:96170 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Wide mouth, Dental malocclusion,... |
OMIM:616331 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:133705 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Gastroesophageal reflux, Stenosis of the external auditory canal, Micrognathia, Poor suck, Nasoga... |
ORPHA:93316 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... |
ORPHA:1307 |
Say Syndrome |
|
Micrognathia, Cleft palate, Macrotia |
OMIM:181180 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Atresia of the external auditory canal, Hearing impairment, Aganglionic megacolon, Abnormal auton... |
OMIM:243180 |
Isotretinoin Syndrome |
|
Abnormality of the outer ear, Micrognathia, Cleft palate, Microtia |
ORPHA:2305 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Small thena... |
OMIM:239800 |
Mucopolysaccharidosis Type 2 |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... |
ORPHA:580 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Feeding difficulties, Microtia, Stenosis of the external audito... |
OMIM:606164 |
Agnathia-Otocephaly Complex |
|
Conductive hearing impairment, Narrow mouth, Cleft palate, Holoprosencephaly, Micrognathia, Aglos... |
OMIM:202650 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Narrow mouth, Cupped ear, Cleft palate |
ORPHA:93946 |
Stickler Syndrome, Type Ii |
|
Sensorineural hearing impairment, High, narrow palate, Cleft palate, Bifid uvula, Pierre-Robin se... |
OMIM:604841 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Optic atrophy, Vill... |
OMIM:601110 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Generalized amyotrophy |
OMIM:616540 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Sensorineural hearing impairment, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin ve... |
OMIM:612938 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Bifid uvula, Cleft palate |
ORPHA:506353 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Sensorineural hearing impairment, Decreased number of large peripheral myelinated nerve fibers, G... |
ORPHA:298 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum |
OMIM:618732 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Protruding ear, Cleft palate, Muscular dystrophy, Abnormal cerebellar vermis morph... |
ORPHA:899 |
Larsen-Like Syndrome |
|
Dental malocclusion, Conductive hearing impairment, Wide anterior fontanel, Cleft palate, Recurre... |
OMIM:608545 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Low-set ears, Abdominal distention, Cleft palate |
OMIM:613885 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Sensorineural hearing impairment, High palate, Retrognathia, Cupped ear, Mixed hearing impairment... |
OMIM:300472 |
Cri-Du-Chat Syndrome |
|
High palate, Abnormal pinna morphology, Microretrognathia, Gastroesophageal reflux, Stenosis of t... |
OMIM:123450 |
Split-Hand/Foot Malformation 1 |
|
Hearing impairment, Abnormal pinna morphology, Cleft palate |
OMIM:183600 |
Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Tongue atrophy, Proximal amyotrophy, Distal amyotrophy |
OMIM:254300 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Low-set, posteriorly rotated ears, ... |
ORPHA:1488 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Congenital diaphragmatic hernia, Microtia, Tracheoesophageal fistula, Micrognathia... |
ORPHA:268249 |
Amish Lethal Microcephaly |
|
Feeding difficulties, Micrognathia, Optic atrophy, Death in infancy, Cleft soft palate |
ORPHA:99742 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Abnormal pinna morphology, Cleft palate, Glossoptosis, Micrognathia... |
OMIM:616145 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... |
OMIM:613662 |
Zimmermann-Laband Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Large fleshy ears, High palate, Supernumerary tooth... |
ORPHA:3473 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Feeding d... |
OMIM:300048 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Ectopic anus, Nar... |
ORPHA:87 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Retrognathia, Micrognathia, Neonatal death, Microglossia |
OMIM:227270 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Fraser Syndrome 1 |
|
Myelomeningocele, Low-set ears, Abnormal pinna morphology, Hydrocephalus, Conductive hearing impa... |
OMIM:219000 |
Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Retrognathia, Tracheoesophageal fistula, Microg... |
ORPHA:3412 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage matrix, Cleft palate, Abnormal cartilage morphology, L... |
ORPHA:2347 |
Developmental And Epileptic Encephalopathy 80 |
|
High palate, Uplifted earlobe, Abnormal pinna morphology, Wide mouth, Overfolded helix, Micrognat... |
OMIM:618580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... |
ORPHA:217085 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate |
OMIM:192445 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... |
ORPHA:217093 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... |
ORPHA:2316 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Tarp Syndrome |
|
High palate, Cleft palate, Microtia, Glossoptosis, Micrognathia, Cerebellar hypoplasia, Optic atr... |
OMIM:311900 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... |
OMIM:147770 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Mucopolysaccharidosis Type 3 |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Hydrocephalus, Conducti... |
ORPHA:581 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Camptodactyly of fin... |
ORPHA:2554 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria |
OMIM:614817 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Gingival overgrowth, Flexion contracture, Bifid uvula, Thick lower lip vermilion |
OMIM:618658 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, High, narrow palate, Hypodontia, Glossoptosis, Camptodactyly of finger, Abnorm... |
ORPHA:3201 |
Fanconi Anemia, Complementation Group L |
|
Anal atresia, Hydrocephalus, Cleft palate, Microtia, Tracheoesophageal fistula, Micrognathia, Ano... |
OMIM:614083 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Posterior helix pit, Otosclerosis, Wide mouth, Wide anterior fontanel, Congenita... |
ORPHA:116 |
Solar Urticaria |
|
Abnormal tongue morphology, Vertigo, Abnormal lip morphology |
ORPHA:97230 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Sensorineural hearing impairment, Cleft lip, Cleft palate |
OMIM:612370 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Cleft palate, Retrognat... |
ORPHA:52055 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Narrow mouth, Wide anterior fontanel, Cleft palate, Microtia, Overfold... |
OMIM:617746 |
Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... |
ORPHA:353253 |
Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Micrognathia, Lobulated tongue, Hamartoma of ... |
OMIM:258860 |
Acrofacial Dysostosis, Cincinnati Type |
|
Cleft palate, Microtia, Retrognathia, Micrognathia, Anotia, Hypoplasia of the maxilla, Macrotia |
OMIM:616462 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cleft palate, Microtia, Micrognathia, Atresia of the external auditory canal, Non-midline cleft l... |
ORPHA:3429 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Type I diabetes mellitus |
ORPHA:275555 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... |
ORPHA:861 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Micrognathia, Death in infancy, Median cleft lip, Hip dislocation, Microglossia |
OMIM:241800 |
Bresek Syndrome |
|
Hydrocephalus, Protruding ear, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hearing impa... |
ORPHA:85284 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Feeding difficulties, Micrognathia, Short philtrum, Bifi... |
ORPHA:96184 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Posteriorly rotated ears, Protruding tongue, Macrotia, ... |
OMIM:618106 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... |
ORPHA:2980 |
Benign Schwannoma |
|
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormal esophagus... |
ORPHA:252164 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Oral mucosal blisters, Microtia, Neonatal death, Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Overfolded helix, Abnormal antitragus morphology, Abnormality o... |
ORPHA:2759 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Abnormality of the dentition, Camptodac... |
ORPHA:178303 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Microtia, Bifid uvula, Low-set ears, Posteriorly rotat... |
OMIM:619314 |
Distal Monosomy 10Q |
|
High palate, Anal atresia, Protruding ear, Cochlear malformation, Congenital sensorineural hearin... |
ORPHA:96148 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Neu-Laxova Syndrome |
|
Trismus, Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Flexion contractu... |
ORPHA:2671 |
15Q Overgrowth Syndrome |
|
High palate, Hydrocephalus, Microretrognathia, High, narrow palate, Dandy-Walker malformation, Re... |
ORPHA:314585 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Tympanosclerosis, Malabsorption, Atrophic gastritis, Enamel hypoplasia |
OMIM:240300 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Cleft palate, Overfolded helix, Thick lower lip vermilion, Cleft uppe... |
OMIM:300373 |
Raine Syndrome |
|
High palate, Wide mouth, Hydrocephalus, Abnormal pinna morphology, Protruding ear, Gingival overg... |
OMIM:259775 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia o... |
ORPHA:245 |
Cleidocranial Dysplasia |
|
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... |
ORPHA:1452 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Low-set ears, Posteriorly rotated ears, Cleft soft palate |
OMIM:606851 |
Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Optic nerve hypoplasia, Low-set ears, Posteri... |
OMIM:607597 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Conductive hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Short ... |
ORPHA:1393 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Bifid ... |
ORPHA:1790 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Recurrent otitis media |
OMIM:601492 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Feeding difficulties, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uv... |
ORPHA:404440 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Genu valg... |
OMIM:300602 |
Birk-Barel Syndrome |
|
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion... |
OMIM:612292 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Wide anterior fontanel, Contracture of the proximal interphalangeal joint of the 4th... |
ORPHA:457279 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Sensorineural hearing impairment, Abnormal cerebellum morphology, Facial palsy, Hand muscle atrop... |
OMIM:211530 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... |
OMIM:601808 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Hearing impairment, Bifid uvula, Cleft palate |
OMIM:300958 |
Oculofaciocardiodental Syndrome |
|
Sensorineural hearing impairment, Tooth malposition, Cleft palate, Intestinal malrotation, Abnorm... |
ORPHA:2712 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Hydrocephalus, High, narrow palate, Cupped ear, Long philtrum, Anteriorly placed anu... |
OMIM:612863 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Underdeveloped antitragus, Retrognathia, Short philtrum, Prominent antihelix, Smooth philtrum, Po... |
ORPHA:293725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Facial hypotonia, Protruding ear, Lower limb hypertonia, Flexion contracture, Microg... |
OMIM:300534 |
Schilbach-Rott Syndrome |
|
Narrow mouth, Microtia, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate |
OMIM:164220 |
Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Cerebellar atrophy, Tongue atrophy, Dysphagia, Hearing impairment, Skeleta... |
OMIM:614153 |
Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Facial palsy |
ORPHA:2743 |
Puerto Rican Infant Hypotonia Syndrome |
|
High palate, Narrow palate, Abdominal distention, Constipation, Long philtrum, Open mouth, Chroni... |
OMIM:600096 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Conductive hearing impairment, Micrognathia, Cleft palate |
OMIM:601076 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Long philtrum, Vomiting, Neonatal death... |
OMIM:608104 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria |
OMIM:615605 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Umbilical hernia, Micr... |
ORPHA:1770 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... |
OMIM:129400 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Genu valg... |
OMIM:300431 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Cleft palate, Abnormal Eustachian tube morphology, Micrognathia, Hy... |
ORPHA:513456 |
Down Syndrome |
|
Conductive hearing impairment, Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormali... |
ORPHA:870 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Sensorineural hearing impairment, Low-set ears, High palate, Wide anterior fontanel, Abnormal hel... |
OMIM:214100 |
Monosomy 9P |
|
Abnormal antihelix morphology, High palate, Narrow mouth, Congenital diaphragmatic hernia, Cleft ... |
ORPHA:261112 |
Carey-Fineman-Ziter Syndrome 1 |
|
Sensorineural hearing impairment, High palate, Hypoplasia of the brainstem, Hypoplasia of the mus... |
OMIM:254940 |
Desmosterolosis |
|
Large earlobe, Hydrocephalus, Narrow mouth, Cleft palate, Intestinal malrotation, Retrognathia, M... |
ORPHA:35107 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Elevated circulating creatinine concentration |
OMIM:616733 |
Aase-Smith Syndrome I |
|
Abnormal pinna morphology, Flexion contracture, Cleft palate, Open mouth |
OMIM:147800 |
Generalized Arterial Calcification Of Infancy |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Calcification ... |
ORPHA:51608 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... |
ORPHA:2752 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
Icf Syndrome |
|
Malabsorption, Macroglossia, Micrognathia, Communicating hydrocephalus, Protruding tongue, Umbili... |
ORPHA:2268 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Abdominal distention, Intestinal malrotation, Optic disc coloboma, Low-set ears, Re... |
OMIM:270420 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Bifid uvula, Spinal dysraphism, Incomplete partition of the coc... |
OMIM:617660 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Delayed ossification of carpal bones, Glossoptosis, Micrognathia, Carious teeth, Hearing impairment |
ORPHA:93346 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Atresia of the external auditory canal, Hearing impairment, Low-set ears, Pseudopapilledema |
OMIM:264475 |
Spinocerebellar Ataxia Type 36 |
|
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Tongue atrophy, Dysphagia... |
ORPHA:276198 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Meckel Syndrome 12 |
|
Micrognathia, Bifid uvula, Cerebellar hypoplasia, Arthrogryposis multiplex congenita, Low-set ears |
OMIM:616258 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Protruding ear, Glossoptosis, Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele |
ORPHA:2031 |
Megalocornea-Mental Retardation Syndrome |
|
Large fleshy ears, High palate, Micrognathia, Cupped ear, Long philtrum, Bifid uvula, Dysphagia |
OMIM:249310 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand muscle weakness, Flex... |
ORPHA:101085 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Cleft palate, Microtia, Overfolded helix, Glossoptosis, Micrognathia, Wrist ... |
ORPHA:436003 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Low-set, posteriorly rotated ears, Bilateral cleft lip and palate, Non-midline clef... |
ORPHA:1104 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, N... |
ORPHA:794 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Microtia,... |
ORPHA:2839 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital sensorineural hearing impairment, Protruding ear, Feeding difficulties, Micrognathia, ... |
ORPHA:293967 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Unilateral cleft lip, Darwin tubercle of helix, Unilateral cleft palate, Scapular w... |
OMIM:619122 |
Gorham-Stout Disease |
|
Torticollis, Mandibular pain, Chiari type I malformation, Abnormality of the internal auditory ca... |
ORPHA:73 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Pontocerebellar Hypoplasia, Type 1B |
|
Flexion contracture, Tongue atrophy, Hip dislocation, Tongue fasciculations, Skeletal muscle atrophy |
OMIM:614678 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Gingival overgrowth, Retrognathia, Cerebellar hypoplasia, Optic at... |
ORPHA:561 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Macroglossia, Dysgenesis of the cerebellar vermis, Optic ... |
OMIM:213300 |
Orofaciodigital Syndrome Type 4 |
|
Abnormality of the ear, Abnormality of the tongue, Cleft palate, Short philtrum, Oral synechia, M... |
ORPHA:2753 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
White-Sutton Syndrome |
|
Sensorineural hearing impairment, High palate, Gastroesophageal reflux, Constipation, Feeding dif... |
OMIM:616364 |
Stickler Syndrome, Type I |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Micrognathia, Bifi... |
OMIM:108300 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:313906 |
Native American Myopathy |
|
High palate, Conductive hearing impairment, Muscle fiber atrophy, Cleft palate, Micrognathia, Sub... |
ORPHA:168572 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal |
OMIM:614900 |
Moebius Syndrome |
|
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... |
ORPHA:570 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Anodontia, Abnormal pinna morphology, Hydrocephalus, Narrow mouth, Cleft palate... |
ORPHA:90652 |
Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Enlarged joints, Cleft palate, Glossoptosis, Micrognathia, Oste... |
ORPHA:1427 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Prominent antihelix, Ce... |
OMIM:615802 |
Dubowitz Syndrome |
|
Abnormal antihelix morphology, High palate, Hydrocephalus, Protruding ear, Wide mouth, Malabsorpt... |
ORPHA:235 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... |
ORPHA:90024 |
Juvenile Sialidosis Type 2 |
|
Low-set ears, Gingival overgrowth, Optic atrophy, Protruding tongue, Umbilical hernia, Dysphagia,... |
ORPHA:93399 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... |
ORPHA:2924 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of the maxilla |
OMIM:241310 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... |
ORPHA:206448 |
Folinic Acid-Responsive Seizures |
|
Optic atrophy, Sensorineural hearing impairment, Abdominal distention |
ORPHA:79097 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Narrow mouth, Overfolded helix, ... |
OMIM:300990 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Wide anterior fontanel, Gastroesophageal reflux, Cleft palate, Long phil... |
OMIM:607812 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Feeding difficulties, Microtia, Micrognathia, Long philtrum, Small earlo... |
OMIM:613805 |
Branchiooculofacial Syndrome |
|
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Pyloric steno... |
OMIM:113620 |
Orofaciodigital Syndrome Type 6 |
|
High palate, Conductive hearing impairment, Cleft palate, Micrognathia, Low-set, posteriorly rota... |
ORPHA:2754 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Cerebellar atrophy, Mandibular prognat... |
OMIM:619103 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin vermilion border, Micrognathia, Long philtrum, Bifid uvula, Low-set ears, Posteriorly rotate... |
OMIM:241410 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Dysphagia, Tongue atrophy |
ORPHA:216873 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Microvillus inclusio... |
OMIM:619445 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hypodontia, Cleft palate, Bifid uvula, Camptodactyly |
OMIM:603543 |
Arthrogryposis, Distal, Type 5D |
|
Cleft palate, Micrognathia, Camptodactyly, Furrowed tongue, Elbow flexion contracture, Arthrogryp... |
OMIM:615065 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Aganglionic megacolon, Micrognathia, Cupped ear, Short philtrum, Bifid uvula, Downtu... |
ORPHA:247262 |
Mcdonough Syndrome |
|
Diastasis recti, Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular p... |
OMIM:248950 |
Pai Syndrome |
|
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate |
ORPHA:1993 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:602471 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Retrognathia, Tracheoesophageal fistula, Spina bifida occulta, Low-set ears, Es... |
OMIM:619227 |
Marden-Walker Syndrome |
|
Hydrocephalus, Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Muscular dystrophy, Campto... |
ORPHA:2461 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Distal art... |
OMIM:114300 |
Temple Syndrome |
|
Polyphagia, Bifid uvula |
ORPHA:254516 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... |
ORPHA:466768 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... |
OMIM:610536 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Anal atresia, Ectopic anus, Micrognathia, Bifid tongue, Long philtrum, Esophagea... |
ORPHA:93271 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Congenital diaphragmatic hernia, Cleft palate, Micro... |
OMIM:613309 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Sensorineural hearing impairment, Micrognathia, Cleft palate, Glossoptosis |
ORPHA:440354 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Underfolded helix, Mandib... |
OMIM:263540 |
Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:123500 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... |
ORPHA:99027 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Macrogloss... |
OMIM:610253 |
Loeys-Dietz Syndrome 5 |
|
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Overfolded ... |
OMIM:615582 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conductive hearing impairment, Protruding ear, Hypodontia, Cleft palate, Micrognathia, Submucous ... |
ORPHA:1071 |
Athyreosis |
|
Abdominal distention, Macroglossia, Constipation, Feeding difficulties |
ORPHA:95713 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Sensorineural hearing impairment, High palate, Long upper lip, Cleft palate, Everted lower lip ve... |
OMIM:608670 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... |
OMIM:612350 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Overfolded helix, Contractures of the large joints, Protruding tongu... |
ORPHA:324410 |
Frontometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hypoplasia of the musculature, I... |
ORPHA:1826 |
Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Hydrocephalus, Holoprosencephaly, Intestinal malrotation, Anencephaly,... |
OMIM:269860 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Constipation, Abnormality of the dentition, Vomiting, Optic nerve dysplasia, Open mo... |
OMIM:115150 |
Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Hydrocephalus, Optic atrophy, Hearing impairment, Protruding tongue, Umbilic... |
ORPHA:93400 |
Thalidomide Embryopathy |
|
Abnormality of the outer ear, Hearing impairment, Anotia |
ORPHA:3312 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominent... |
ORPHA:364577 |
Cousin Syndrome |
|
Alveolar ridge overgrowth, Hydrocephalus, Joint contracture of the hand, Cleft palate, Microtia, ... |
OMIM:260660 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue |
OMIM:617127 |
Qazi-Markouizos Syndrome |
|
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... |
ORPHA:3010 |
Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... |
ORPHA:530 |
Holoprosencephaly 13, X-Linked |
|
Duodenal atresia, Alobar holoprosencephaly, Median cleft palate, Cleft palate, Microtia, Microgna... |
OMIM:301043 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cerebrocostomandibular Syndrome |
|
High palate, Conductive hearing impairment, Glossoptosis, Abnormality of the dentition, Micrognat... |
OMIM:117650 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Abnormal pinna morphology, Narrow mouth, Retrognathia, Micrognathia, Hearing impairment, Protrudi... |
OMIM:608779 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sensorineural hearing impairment, Wide mouth, Gingival overgrowth, Everted lower lip vermilion, O... |
OMIM:212066 |
Atresia Of Small Intestine |
|
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... |
ORPHA:1201 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Esophageal atresia, Smooth philtrum, Cleft soft palate |
OMIM:614526 |
Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... |
ORPHA:1358 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Abnormal helix morphology, Cleft palate, Macroglossia, Open mouth, Abnormal autonomi... |
ORPHA:453499 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Wide mouth, Narrow mouth, Hypoplasia of the pharynx, Cleft palate,... |
OMIM:154500 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Marshall-Smith Syndrome |
|
High palate, Hydrocephalus, Overfolded helix, Eclabion, Short philtrum, Bilateral conductive hear... |
OMIM:602535 |
Kapur-Toriello Syndrome |
|
Atresia of the external auditory canal, Low-set ears, Posteriorly rotated ears |
ORPHA:2328 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Abdominal distention, Cleft palate, Hepatic failure, Micr... |
OMIM:235255 |
Cohen Syndrome |
|
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the ... |
ORPHA:193 |
Craniofacial Microsomia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Wide mouth, Cleft... |
OMIM:164210 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Downturned corners of mouth, Recurrent otitis media, Thin upper lip vermilion, Poste... |
OMIM:619680 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Macroglossia, Micrognathia, Protruding tongue, Low-set ears |
OMIM:242860 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abdominal distention, Death in infancy, Feeding difficulties, Hepatic failure |
OMIM:618528 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cerebellar atrophy, Decreased nerve conduction velocity, Cleft palate |
OMIM:618356 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
Marshall Syndrome |
|
Sensorineural hearing impairment, Thick upper lip vermilion, Macrodontia of permanent maxillary c... |
OMIM:154780 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Congenital sensorineural hearing impairment, Wide mouth, Congenita... |
OMIM:157800 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Micrognathi... |
ORPHA:2886 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment, Proximal amyot... |
ORPHA:95433 |