Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... |
ORPHA:2007 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Short philtrum, Thick upper lip ve... |
OMIM:600093 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... |
ORPHA:1248 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... |
OMIM:136760 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Abnormality of the dentition |
ORPHA:2776 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Osteoporosis of vertebrae, Thin vermilion border, Short philtrum, Prem... |
OMIM:156510 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, A... |
ORPHA:293939 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of ... |
ORPHA:915 |
Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the... |
ORPHA:776 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... |
ORPHA:1529 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... |
ORPHA:90653 |
20P12.3 Microdeletion Syndrome |
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Wolff-Parkinson-White syndrome, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bri... |
ORPHA:261295 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Prominent nasal bridge, Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypop... |
ORPHA:178303 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... |
ORPHA:79113 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Hearing abnormality, Patent ductus arteriosus, De... |
ORPHA:2412 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat... |
OMIM:610828 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... |
OMIM:241310 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Narrow nasal bri... |
OMIM:309520 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Wide nose, Recurrent fractures, Sensorineural hearing impairment, High palate, Retrognathia, Gene... |
OMIM:606056 |
Microphthalmia With Limb Anomalies |
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Low-set, posteriorly rotated ears, Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, ... |
ORPHA:1106 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai... |
ORPHA:99772 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Hypertension, Osteolysis involving tarsal bo... |
OMIM:166300 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Smooth philtru... |
OMIM:618737 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Cond... |
ORPHA:207 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-... |
ORPHA:245 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na... |
ORPHA:2673 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... |
ORPHA:2409 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thin upper lip vermilion, Posteriorly rotated ears, Broad nasal tip, Narrow jaw, Wide nasal bridg... |
OMIM:618147 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the premaxilla, Microgna... |
ORPHA:2166 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Multiple prenatal fractures, Flexion contracture, High palate, Generalized edema |
OMIM:271225 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Joint hypermobility, Aggressive behavior, Hypoplasia of the maxilla, Bulbous no... |
ORPHA:481152 |
Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Polyhydramnios, Micrognathia, Wide nasal bridge, High palate, Low-set e... |
OMIM:618393 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Prominent nasal bridge, ... |
ORPHA:1307 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, High palate, Short nose, Macrotia |
OMIM:218000 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:560 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Joint laxity, Tented upper lip vermilion, Micrognathia, Hypoplas... |
OMIM:601390 |
Keipert Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid... |
ORPHA:2662 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla... |
OMIM:608149 |
Lymphatic Malformation 6 |
|
Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial ed... |
OMIM:616843 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the coc... |
ORPHA:251061 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Abnormali... |
ORPHA:1798 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... |
ORPHA:950 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Prominent U w... |
OMIM:170390 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Conv... |
ORPHA:93262 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th... |
OMIM:101600 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Patent ductu... |
OMIM:106260 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t... |
OMIM:620157 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis... |
ORPHA:794 |
Trigonocephaly 2 |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:614485 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:615546 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Cleft upper lip, Hypopla... |
OMIM:305400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Prominent nasal bri... |
OMIM:300534 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilatera... |
ORPHA:314679 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Prominent nasal tip, Depressed nas... |
ORPHA:439822 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Osteopenia, Sensorineural hearing impairment |
OMIM:608154 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr... |
ORPHA:763 |
Fetal Akinesia Deformation Sequence 3 |
|
Generalized edema, Micrognathia |
OMIM:618389 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Bifid nasal tip, Wide nasal bridge... |
OMIM:300983 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Wide nose, Pulmonary edema, Polyhydramnios, Edema, Sensorine... |
ORPHA:79330 |
Monosomy 5P |
|
Microretrognathia, Low-set, posteriorly rotated ears, Recurrent fractures, Wide nasal bridge, Joi... |
ORPHA:281 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... |
ORPHA:192 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Carpenter Syndrome 1 |
|
Depressed nasal bridge, Abnormal pinna morphology, Sagittal craniosynostosis, Persistence of prim... |
OMIM:201000 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... |
ORPHA:2015 |
Cohen Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... |
OMIM:216550 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Posteriorly rotated ears, Abnormal ... |
ORPHA:228396 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Wide nasal bridge, Short phi... |
OMIM:619311 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig... |
OMIM:123500 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,... |
OMIM:620099 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... |
ORPHA:87 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal i... |
OMIM:129400 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Short nose, Hearing impairment |
OMIM:614261 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... |
ORPHA:782 |
Martsolf Syndrome 1 |
|
Joint laxity, Depressed nasal bridge, Cardiac arrest, Posteriorly rotated ears, Micrognathia, Hyp... |
OMIM:212720 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology |
ORPHA:1540 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Small earlobe, Anteverted nares, Depressed nasal bridge, Craniosynostos... |
OMIM:608156 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Arrh... |
ORPHA:1041 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... |
OMIM:252100 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Lim... |
ORPHA:3080 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, I... |
OMIM:619110 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Oligodontia, A... |
ORPHA:2095 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Calcaneal epiphyseal stippling, Thick nasal alae, Broad nasal tip, Hypo... |
ORPHA:79345 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening |
OMIM:108721 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Micrognathia, Cleft palate, Low-set ears, Arthrogryposis multiplex congenita |
OMIM:616570 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Patent ductus arteriosus, W... |
OMIM:614886 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Micrognat... |
OMIM:182212 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra... |
OMIM:122860 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Cle... |
OMIM:616462 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over... |
OMIM:619142 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Wide nasal bridge, Thin vermilion border, Everted lower lip vermilion, Smooth ph... |
ORPHA:73273 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Nemaline Myopathy 9 |
|
Polyhydramnios, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex congenita |
OMIM:615731 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, U... |
OMIM:257850 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru... |
OMIM:601499 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... |
OMIM:618342 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Patent duct... |
ORPHA:1790 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears |
OMIM:167730 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri... |
ORPHA:1703 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Abnormal intestine morphology, ... |
OMIM:226300 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr... |
OMIM:600920 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal b... |
ORPHA:1516 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Aplasia of the nasal bone, Recurrent fr... |
OMIM:601812 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Pa... |
ORPHA:2863 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Hip contracture, Narrow nasal bridge, Interphalangeal join... |
OMIM:259600 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Hyperactivity, Prominent nose, Wide nasal bridge, Narrow palate |
OMIM:617169 |
Orofaciodigital Syndrome Xix |
|
Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Carious ... |
OMIM:620107 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, H... |
OMIM:618388 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Patent ductus arteriosus, Nar... |
OMIM:277600 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla |
OMIM:613671 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... |
ORPHA:193 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Polyhydramnios, Cleft upper lip, Swollen lip, Micrognathia, Patent ductus arteriosus, ... |
OMIM:256520 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... |
ORPHA:391474 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:614669 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Microtia, Increased overbit... |
OMIM:618761 |
Greenberg Dysplasia |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy vari... |
OMIM:215140 |
Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Facial edema, Periorbital edema, Myocarditis, Subconjunctival hemorrhage, Rhin... |
ORPHA:319213 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Microtia, High palate, Joint contract... |
OMIM:248910 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Joint hypermobility, Limited elbow movement, Cleft upper lip, Crani... |
OMIM:265050 |
Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... |
OMIM:617616 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge |
OMIM:209970 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Patent ductus arteriosus, Flexion contracture, Thick lower lip vermilion, Gingiv... |
OMIM:618658 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the internal auditory canal, Abnormality of the temporomandibular join... |
ORPHA:73 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow ... |
ORPHA:313892 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub... |
ORPHA:2588 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... |
OMIM:211380 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Hyperactivity, Anteverted nares, Micrognathia, Repetitive compulsive behavio... |
ORPHA:352490 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Anteverted nares, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia... |
ORPHA:2462 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Deep ... |
ORPHA:77300 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Lymphedema, Hearing abnormality, L... |
ORPHA:2077 |
Recon Progeroid Syndrome |
|
Joint laxity, Attached earlobe, Prominence of the premaxilla, Dental crowding, Anteverted nares, ... |
OMIM:620370 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Intestinal malrotation, Oligohydramnios |
OMIM:249210 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Anteriorly placed anus, Downt... |
ORPHA:1299 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micr... |
ORPHA:2554 |
Lamb-Shaffer Syndrome |
|
Dental crowding, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Open mouth |
OMIM:616803 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ... |
OMIM:231070 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... |
ORPHA:2791 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, High, nar... |
OMIM:619941 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b... |
OMIM:613805 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... |
OMIM:105830 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Micrognathia, Pericardial effusion, Recurrent upper respiratory tract infections,... |
OMIM:618183 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:101800 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Congestive heart failure, Pat... |
OMIM:608328 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Sensorineural hearin... |
OMIM:604841 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Hyperactivity, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep ... |
OMIM:615834 |
Ring Chromosome 1 Syndrome |
|
Downturned corners of mouth, Anteverted nares, Wide nasal bridge, Long philtrum |
ORPHA:1437 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Posteriorly rotated ears, Limited elbow movement, Prominent nose, Joint contracture of... |
OMIM:300280 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose,... |
OMIM:613604 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Anteverted nares, Camptodactyly of ... |
OMIM:166250 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Aggressive behavior, Cle... |
ORPHA:251019 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... |
ORPHA:96129 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal death |
OMIM:615524 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Abnormal small intestinal villus morphology, Intes... |
ORPHA:90362 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... |
OMIM:261740 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Thick vermilion border, Short p... |
OMIM:615071 |
Cofs Syndrome |
|
Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormal nasal morphology, Sensorineural ... |
ORPHA:1466 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate |
OMIM:600252 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Wide nasal bridge, Micrognathia |
ORPHA:3207 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Wide nasal bridge, Protruding ear, Wide mouth, E... |
OMIM:619595 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Zttk Syndrome |
|
Aortic regurgitation, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hyp... |
OMIM:617140 |
Mulibrey Nanism |
|
Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Thickened cortex of l... |
OMIM:253250 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palate, Short nose, Wide n... |
ORPHA:2849 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Micrognathia, Joint stiffness, Hearing abnormality, Non-midlin... |
ORPHA:1580 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa... |
OMIM:300215 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:602483 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine... |
ORPHA:828 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... |
ORPHA:2399 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, B... |
OMIM:609460 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Retrognathia, Wide nasal bridge |
OMIM:619844 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Micrognath... |
ORPHA:251056 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Premature osteoarthri... |
OMIM:184840 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... |
ORPHA:1968 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Edema, Generalized edema |
OMIM:615244 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Abnormal auditory ... |
OMIM:109120 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Velo-Facial-Skeletal Syndrome |
|
High, narrow palate, Wide nasal bridge, Abnormality of the dentition |
ORPHA:3424 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Anteverted na... |
ORPHA:420561 |
Distal 17P13.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Limited elbow movement, Generalized joint laxity, Protruding ear, Hypopla... |
ORPHA:319171 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pr... |
OMIM:180849 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Vertebral fusion, Prominent nasal bridge, Joint ... |
OMIM:139210 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal earlobe mo... |
ORPHA:217017 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
3Q13 Microdeletion Syndrome |
|
Anteverted nares, Wide nasal bridge, Long philtrum |
ORPHA:1621 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Microretrognathia, Palpebral edema, Craniosynostosis, Wide nasal bridge, A... |
ORPHA:397612 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Micrognathia, Uplifted earlobe, High palate, Short philtrum, Median cleft palate,... |
OMIM:617746 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Osteopenia, Prominent nose, Micrognathia, High palate, Macrotia, Hyperplasia of the maxilla |
OMIM:620194 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Microtia, Low-set ears, Narro... |
OMIM:613804 |
Kahrizi Syndrome |
|
Bulbous nose, Thick vermilion border, Wide nasal bridge |
OMIM:612713 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:615761 |
Meier-Gorlin Syndrome 1 |
|
Joint laxity, Incomplete partition of the cochlea type II, Absent sternal ossification, Micrognat... |
OMIM:224690 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Micrognathia, Osteoporosis, Wide nasal bridge, Thin vermilion border, Low-set e... |
OMIM:600118 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricular tachycardia, Tricus... |
ORPHA:97214 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Anteverted nares, Polyhydramnios, Micrognathia, Multiple prenatal f... |
OMIM:616897 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Abnormality of the dentition, Broad nasal tip, Short nose, G... |
OMIM:618529 |
Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Anteriorly placed anus, Glossoptosis, Hi... |
OMIM:602535 |
Charlie M Syndrome |
|
Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Short philtrum, ... |
ORPHA:1406 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia... |
ORPHA:2780 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:613803 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge, Conductive hearing impairme... |
ORPHA:1513 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long ... |
ORPHA:166100 |
Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Limitation of joint mobility, Abnor... |
ORPHA:3098 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Downturned corners of mouth, Widely spaced teeth, High palate, Hyperactivi... |
ORPHA:369891 |
Rafiq Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Joint hypermobility, Prominent nose, Aggressiv... |
OMIM:614202 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Abnormal antiheli... |
ORPHA:3145 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:137834 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Deep philtrum, Wide nasal bridge, Wide mouth, Long phil... |
ORPHA:1825 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Abnormality of the ear, Wide nasal ... |
OMIM:601680 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Depressed nasal bridge, Hearing impairment, Hypoplastic frontal s... |
ORPHA:90650 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Compulsive behaviors, Ab... |
OMIM:617061 |
Tonne-Kalscheuer Syndrome |
|
Prominent nasal bridge, Micrognathia, Prominent nose, Aggressive behavior, Velopharyngeal insuffi... |
OMIM:300978 |
Gand Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, Wide mouth, Short philtrum |
OMIM:615074 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide ante... |
ORPHA:163649 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mouth, Malar flat... |
ORPHA:93946 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:609528 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Ohdo Syndrome |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Wide na... |
OMIM:249620 |
Zechi-Ceide Syndrome |
|
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodontia |
OMIM:612916 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
Glass Syndrome |
|
Dental crowding, Micrognathia, Conical tooth, Long nose, Oligodontia, High palate, Hyperactivity,... |
OMIM:612313 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint laxity, Prominent nose, Aggressive behavior, Bulbous nose, Wide nasal br... |
OMIM:606220 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, ... |
OMIM:182290 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Recurrent fractures, Craniosynostosis, Joint... |
ORPHA:83 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Posteriorly rotated ears, Sagittal craniosynostosis, Wide nasal bridge, High palate, Broad alveol... |
OMIM:314320 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Capitate-hamate fusion, Wide nasal bridge, Cleft palate, Narrow mouth, Coronal cran... |
OMIM:614078 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micro... |
OMIM:613792 |
Chromosome 16Q22 Deletion Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Sensorine... |
OMIM:614541 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill... |
ORPHA:1101 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Cleft palate, Narro... |
OMIM:101400 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Increased skull ossification, Wide nasal bridge, Self-injurious behavior, Thick vermilion border,... |
OMIM:619690 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Anteverted nares, Broad... |
OMIM:615583 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Downturned corners of m... |
OMIM:259050 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Cleft upper lip, Un... |
OMIM:608572 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... |
ORPHA:3241 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Widely spaced teeth, Short philtrum, Microdontia, Abnormal repetitive manner... |
OMIM:619293 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Patent ductus arteriosu... |
ORPHA:11 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis... |
ORPHA:1452 |
Orofaciodigital Syndrome Xviii |
|
Prominent nasal bridge, Accessory oral frenulum, Diastema, Cleft lip, Wide nasal bridge, Short ph... |
OMIM:617927 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Exaggerated cupid's bow, Depressed nasal bridge, Aggressive behavior, Cleft lip, De... |
OMIM:620098 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Larsen-Like Syndrome |
|
Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent nasal bridge, Rec... |
OMIM:608545 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, Malar flat... |
ORPHA:2145 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Broad nasal tip, Delayed epiphyseal ossification, Knee flexion c... |
ORPHA:166016 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Exaggerated cupid's bow, Aggressive behavior, Micrognathia, Wide nasal br... |
ORPHA:261229 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge, Large fleshy ears, Short philtrum, Everted lower lip v... |
OMIM:619556 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Recurrent fractures, Hearing impairment, Malabso... |
ORPHA:1775 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Stapes ankylosis, Dental crowding, D... |
OMIM:614188 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Exaggerated cupid's bow, Joint hypermobility, Prominent nasal bridge, Micrognathia, Aggressive be... |
OMIM:618659 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Patent ductus arteriosus, Dental malocclusion, Wid... |
OMIM:619149 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Abnormal nasopharynx morphology, Mixed hearing impairment, Wide nasal brid... |
OMIM:218400 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Polyhydramni... |
OMIM:616920 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Non-mi... |
ORPHA:1752 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, Aggressive behavio... |
OMIM:618356 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Oligodontia, Thick vermilion border, Wide nasal bridge, Depressed nasal bridge |
OMIM:617392 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Lymphedema, Wide nasal bridge, Cleft palate, Protruding ear, Downtur... |
ORPHA:1598 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Polyhydramnios, Knee flexion contracture, High palate, Sp... |
OMIM:193700 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Nephrotic Syndrome, Type 22 |
|
Generalized edema |
OMIM:619155 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge... |
OMIM:201170 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Posteriorly rotat... |
ORPHA:293725 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Portal hypertension, Esophageal varix, Rickets,... |
OMIM:613658 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Macroglossia, Tented upper lip vermilion, High palate, Wide nasal bridge |
OMIM:616025 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Conductive heari... |
OMIM:619312 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Hearing abnormality,... |
ORPHA:1555 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Bu... |
OMIM:614437 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, Aggressive ... |
OMIM:619320 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Flexion contracture, Wide nasal bridge, Wide mouth, High palate, Short philtrum |
OMIM:614066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Anteverted nares, Cleft upper lip, Aggressive behavior, Bulbous nose, Wide nasal b... |
OMIM:300958 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Edema, Polyhydramnios, Protruding ear, Neonatal death, Tricuspid regurgitation, Antev... |
OMIM:619534 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... |
OMIM:618729 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Wide mouth, Smooth philtrum |
OMIM:618009 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Edema, Intestinal perforation, Myocarditis, Hypertension, Pleural empyema, S... |
ORPHA:544482 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th... |
ORPHA:96334 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
Trisomy 18P |
|
Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Pyloric ... |
ORPHA:1715 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Systolic heart murmur, Low-set ears, Generalized edema |
OMIM:617478 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, A... |
OMIM:618205 |
Noonan Syndrome 13 |
|
Joint laxity, Anteverted nares, Posteriorly rotated ears, Micrognathia, Aggressive behavior, Lymp... |
OMIM:619087 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Wide nasal bridge, Abnormal palate morphology, Micrognathia |
ORPHA:1278 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Underdeveloped nasal ala... |
OMIM:263650 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Craniosynostosis, Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Pr... |
OMIM:619451 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge |
OMIM:617127 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too... |
OMIM:305100 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Edema, Malabsorption, Celiac disease, Lymphedema, ... |
ORPHA:90363 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Low-set ears, Decre... |
ORPHA:93267 |
Blepharonasofacial Malformation Syndrome |
|
Wide nose, Underdeveloped nasal alae, External ear malformation, Non-midline cleft lip, Wide nasa... |
ORPHA:1252 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Attention deficit hyperactivity disorder, Prominent nose |
ORPHA:137831 |
Pai Syndrome |
|
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cleft palate... |
ORPHA:96184 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Thick vermilion border, Retrognathia |
OMIM:615979 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Limitation of joint mobility, Osteolysis, ... |
ORPHA:2774 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Pierre-Robin sequence, ... |
OMIM:619980 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Long philtrum, Short n... |
OMIM:618577 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Abnormality of the dentition, Joint stiffness, Narrow mo... |
ORPHA:2053 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Edema, Generalized edema |
OMIM:603553 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Anteverted nares, ... |
OMIM:607812 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Wide nasal bridge, Multiple suture craniosynostosis, Broad sec... |
ORPHA:3369 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Abnormality of the dentition, Supern... |
ORPHA:502 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Cupped ear, Hypoplastic nasal ... |
ORPHA:40366 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Wide nasal bridge |
OMIM:300804 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Polyhydr... |
OMIM:261540 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge, Low-set ears, Epiphyseal stippling |
OMIM:614859 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Aggressive behavior, Narrow mouth, Macrotia, Wide nasal bridge, Narrow palate, Hypo... |
OMIM:620250 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Abnormalit... |
ORPHA:1794 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Protruding ear, Joint hyperflexibility, Hypoplasia of t... |
ORPHA:1778 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Broad nasal tip |
OMIM:620393 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Protruding ear, High palate, Spina bifida occulta, Patent ductus ar... |
ORPHA:96148 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microg... |
ORPHA:435638 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Patent ductus arteriosus, Sensorineu... |
OMIM:243310 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Bifid uvu... |
ORPHA:500150 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula |
OMIM:601492 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Submucou... |
OMIM:222765 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Abnormal pinna morphology, Hearing impairment, Aggressive behav... |
OMIM:123450 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Thin upper lip vermilion, Hyperactivity, Anteverted nares, Prominent nasal brid... |
OMIM:616977 |
Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Intestinal malrotation, Joint hypermobility, Narrow nose, Cario... |
OMIM:617602 |
Neuhauser Syndrome |
|
Osteopenia, Depressed nasal bridge, Micrognathia, Cupped ear, Wide nasal bridge, Dysphagia, Large... |
OMIM:249310 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Generalized edema |
OMIM:267700 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... |
OMIM:619573 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia... |
OMIM:158170 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Triangular mouth, Delayed epiphyseal ossification, Wide nasal bridge |
ORPHA:166024 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... |
OMIM:129900 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Hypoplasia of the zygomatic bone, High palate, Short ph... |
ORPHA:710 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short philtrum, Macrotia, O... |
ORPHA:261304 |
Trisomy 17P |
|
Wide nose, Micrognathia, Prominent nose, Patent ductus arteriosus, Flexion contracture, Cleft pal... |
ORPHA:261290 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... |
ORPHA:567546 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Wide nasal bridge, Low-set ears |
OMIM:614870 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela... |
ORPHA:819 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Wide nose, Joint hypermobility, Prominent nose, Wide nasal bridge, Thic... |
ORPHA:397941 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Prominent nose, Bulbous nose, Wide nasal bridge, Wide mouth, Thick vermilion border, High palate,... |
OMIM:614067 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short... |
OMIM:272440 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Edema, Cleft upper lip, Micrognathia, Polyhydramnios, Flexion contracture, Depr... |
OMIM:312150 |
Sheldon-Hall Syndrome |
|
Tarsal synostosis, Joint stiffness, Micrognathia, Wide nasal bridge, Protruding ear, High palate,... |
ORPHA:1147 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Hyperactivity, Exaggerated cupid's bow, Microg... |
OMIM:605130 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Open mouth, Wide nasal bridge, Long philtrum |
OMIM:615032 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Joint laxity, Portal hypertension, Malabsorption, Underdeveloped nasal alae,... |
OMIM:243800 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Long nose, Oligodontia, Short philtrum, Compulsive behaviors, Conducti... |
ORPHA:2044 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Posteriorly rotated ears... |
OMIM:164745 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Micrognathia, Flexion contracture, Aplasia/Hypoplasia of the e... |
ORPHA:98791 |
Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o... |
ORPHA:2305 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Slender nose, Micrognathia, Narrow mouth, Flexion contracture, Wide nasal bridge, Ca... |
ORPHA:562528 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Orofacial cleft, High palate, Low-set ears, Camptodactyly, Angulated antihelix... |
OMIM:618804 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Abnormal pinna morphology, Prominent nasal bridge, Macrotia, Flexion co... |
OMIM:617452 |
Agnathia-Otocephaly Complex |
|
Wide nose, Tracheomalacia, Micrognathia, Polyhydramnios, Conductive hearing impairment, Aglossia,... |
OMIM:202650 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, High ... |
OMIM:616158 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Craniosynostosis, Micrognathia, Prominent nose, Aggressi... |
OMIM:609625 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Micrognathia, Wide nasal bridge, Limited shoulder moveme... |
OMIM:618821 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares, Long philtrum |
ORPHA:3074 |
Simosa Craniofacial Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, High, ... |
OMIM:182150 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... |
OMIM:235510 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... |
OMIM:613717 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smooth philtrum |
OMIM:613192 |
Schilbach-Rott Syndrome |
|
Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Phelan-Mcdermid Syndrome |
|
Palpebral edema, Micrognathia, Aggressive behavior, Lymphedema, Patent ductus arteriosus, Bulbous... |
OMIM:606232 |
Castleman Disease |
|
Myelofibrosis, Restrictive cardiomyopathy, Intestinal obstruction, Anasarca |
ORPHA:160 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Sensorineural hearing im... |
ORPHA:1131 |
Mulibrey Nanism |
|
Wide nasal bridge |
ORPHA:2576 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... |
ORPHA:231169 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia, Bulbous nose, De... |
ORPHA:1237 |
Lissencephaly 4 |
|
Wide nasal bridge |
OMIM:614019 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Joint hypermobility, Osteoarthritis, Irregularly spaced ... |
OMIM:130000 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Retrognathia, Severe temper tantrums, Wide nasal bridge, Attention deficit hyperactivity disorder |
OMIM:618402 |
Tetrasomy 5P |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Congestive hear... |
ORPHA:3309 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal antihelix mo... |
ORPHA:1699 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... |
ORPHA:3201 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
Dpagt1-Cdg |
|
Prolonged QT interval, Aggressive behavior, Flexion contracture, Osteoporosis, Head-banging, Intr... |
ORPHA:86309 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Wide anterior ... |
OMIM:217980 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Anal atresia |
OMIM:260450 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Low insertion o... |
OMIM:619995 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, High, narrow palate, ... |
OMIM:612513 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Low-set, posteriorly rotated ears, Thin upper lip vermilion, Hip contracture, Tented upper lip ve... |
ORPHA:371364 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate, Mitral regurgitation, Trac... |
OMIM:612561 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Polyhydramnios, Patent ductus arteriosus, Wide nasal bridge, High palate, Joint contr... |
OMIM:618005 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Patent ductus arteriosus, Thick lower lip vermilion, ... |
OMIM:220500 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Prominent nasal bridge, Abnormality of the d... |
ORPHA:96169 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Polyhydramnios, P... |
ORPHA:2759 |
Osteopathia Striata With Cranial Sclerosis |
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Dental crowding, Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, High palate, Conducti... |
OMIM:300373 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Microretrognathia, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Low-set e... |
OMIM:220220 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Meckel Syndrome 12 |
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Anteverted nares, Micrognathia, Wide nasal bridge, Low-set ears, Arthrogryposis multiplex congeni... |
OMIM:616258 |
Frontonasal Dysplasia 3 |
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Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Thin upper lip vermilion, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Hypoplastic ... |
ORPHA:3304 |
Non-Syndromic Metopic Craniosynostosis |
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Wide nasal bridge |
ORPHA:3366 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
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Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
Neonatal Adrenoleukodystrophy |
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Low-set, posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Sensorineural hearin... |
ORPHA:44 |
Faciocardiorenal Syndrome |
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Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... |
ORPHA:1973 |
Craniofrontonasal Dysplasia |
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Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Sensorineural hearing im... |
ORPHA:1520 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Prominent nose, Abnormal mandible condylar process morphology, Joint swelling, Abnormal ethmoid b... |
ORPHA:2976 |
Suleiman-El-Hattab Syndrome |
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Microretrognathia, Thin upper lip vermilion, Thick lower lip vermilion, Wide nasal bridge, Protru... |
OMIM:618950 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyng... |
OMIM:614701 |
Oculoskeletodental Syndrome |
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Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Conductive hearing impair... |
ORPHA:557003 |
Bainbridge-Ropers Syndrome |
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Dental crowding, Polyhydramnios, Micrognathia, Contracture of the proximal interphalangeal joint ... |
OMIM:615485 |
Congenital Myopathy 22A, Classic |
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Hip contracture, Tricuspid regurgitation, Dental crowding, Polyhydramnios, Micrognathia, Achilles... |
OMIM:620351 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
Ring Chromosome 6 Syndrome |
|
Wide nasal bridge |
ORPHA:1448 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Depressed nasal bridge, Bulbous nose, Flexion contracture, Macrotia, Wide nasal ... |
OMIM:601110 |
Opitz Gbbb Syndrome |
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Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Pos... |
OMIM:300000 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Thin upper lip vermilion, Joint stiffness, Anosmia, Hypoplasia of the zygomatic bone, Abnormal no... |
ORPHA:1295 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Bulbous nose, Wide nasal bridge, Downturned corners o... |
OMIM:613174 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
15Q Overgrowth Syndrome |
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Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Co... |
ORPHA:3305 |
Frontometaphyseal Dysplasia 1 |
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Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Megalocornea-Intellectual Disability Syndrome |
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Osteopenia, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Protruding ear, Jo... |
ORPHA:2479 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Pursed lips, Hip contracture, Anteverted nares, Micrognathia, Elbow flexion contracture, Wide nas... |
OMIM:616266 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Joint stiffness, Abnormality of cartilage of external ear, W... |
ORPHA:324313 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... |
OMIM:619383 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness, Long nose, Oral-p... |
OMIM:619184 |
Zellweger Syndrome |
|
Depressed nasal bridge, Malabsorption, Micrognathia, Pyloric stenosis, Wide anterior fontanel, Se... |
ORPHA:912 |
Histidinuria Due To A Renal Tubular Defect |
|
Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Long philtrum |
OMIM:235830 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Intestinal malrot... |
ORPHA:401935 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
1Q41Q42 Microdeletion Syndrome |
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Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... |
ORPHA:250999 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Edema, Micrognathia, Polyhydramnios, Flexion contracture, Depressed nasal ridge... |
OMIM:253290 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Decreased calvarial ossi... |
OMIM:618265 |
C Syndrome |
|
Fused sternal ossification centers, Anteverted nares, Posteriorly rotated ears, Accessory oral fr... |
OMIM:211750 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... |
OMIM:617930 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Low-set, posteriorly rotated ears, Abnormality of the dentiti... |
ORPHA:1786 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Cup... |
ORPHA:52055 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis, ... |
OMIM:200610 |
Pmm2-Cdg |
|
Mandibular prognathia, Osteopenia, Multiple joint contractures, Prominent nose, Lymphedema, Intra... |
ORPHA:79318 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Abnormal zygomatic bone morphology, Fibrous dysplasia of the bone... |
ORPHA:249 |
Toluene Embryopathy |
|
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Low-set ea... |
ORPHA:1920 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Choanal stenosis, Neonatal deat... |
OMIM:259775 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Intest... |
ORPHA:35107 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Rubinstein-Taybi Syndrome |
|
Polyhydramnios, Abnormality of the dentition, Carious teeth, Micrognathia, Wide nasal bridge, Joi... |
ORPHA:783 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Anteverted nares, Limited elbow movement, Micrognathia, Limited knee flexion, Bul... |
OMIM:615065 |
Pontocerebellar Hypoplasia Type 10 |
|
Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:411493 |
Cantu Syndrome |
|
Anteverted nares, Depressed nasal bridge, Lymphedema, Pericardial effusion, Patent ductus arterio... |
OMIM:239850 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... |
ORPHA:2750 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate |
OMIM:620183 |
Zaki Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Patent ductus arteriosus, Cupped ear, Wide nasal bridg... |
OMIM:619648 |
Tarp Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Wide nasal bridge,... |
OMIM:311900 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Wide mouth, Oligodon... |
OMIM:602562 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal bridge, Thin vermilion ... |
OMIM:610015 |
Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Joint stiffness, Osteoarthritis, Submucou... |
OMIM:108300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, P... |
OMIM:611209 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Large earl... |
ORPHA:1438 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Rep... |
OMIM:300260 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Polyhydramnios, Intraventricular... |
OMIM:613603 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Pericardial effusion, Wide... |
OMIM:614684 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, Cleft palate, Hypoplas... |
ORPHA:1812 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ... |
ORPHA:2107 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Wide nasal bridge, Bilateral sensorineural hearing impairment, Low-set ea... |
OMIM:264470 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Malabsorption, Hiatus hernia... |
ORPHA:50 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercl... |
OMIM:619122 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Wide nasal bridge, Low-set ears, Micrognathia |
OMIM:612626 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Polyhydramnios, Pica, Downturned corners of mouth, Short philtrum, Microd... |
OMIM:617360 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Everted lower lip vermilion, Wide nasal bridge, Narrow mouth |
ORPHA:228399 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cle... |
ORPHA:2189 |
Hamamy Syndrome |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Recurrent fractures, Craniosynostosis, Mi... |
OMIM:611174 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Wide nasal bridge, Short philt... |
OMIM:611091 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion contracture, Limb ... |
OMIM:620369 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Reduced bone mineral ... |
ORPHA:742 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Generalized o... |
OMIM:602398 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Small earlobe, Abnor... |
ORPHA:364577 |
Fibrochondrogenesis 1 |
|
Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Wide anterior fontanel, Narr... |
OMIM:228520 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Depressed nasal ... |
ORPHA:363659 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema, Dysphagia |
OMIM:254900 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Paten... |
OMIM:616894 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... |
OMIM:618067 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Aganglionic megacolon, Camptodactyly of finger, Prominent nasal bridge, Se... |
OMIM:148820 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Dental crowding, Depressed nasal bridge, Palpebral edema, Deep philtrum, Patent ductus arteriosus... |
ORPHA:397709 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cleft palate, Protr... |
OMIM:618571 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, Laryngotracheomalacia, Short philtrum, Compulsive behaviors, Anteverted nares, Depr... |
OMIM:618454 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ... |
OMIM:619124 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, ... |
ORPHA:246 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, High palate, Wide nasal bridge |
OMIM:615760 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Open mouth, Wide nasal bridge |
OMIM:600906 |
W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Wide nasal bridge, Narrow palate, Wide mouth, Thick vermilion b... |
OMIM:619435 |
Woods Syndrome |
|
Thin vermilion border, Wide nasal bridge, Low hanging columella |
OMIM:615236 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... |
ORPHA:894 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Congestive heart ... |
OMIM:182250 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe... |
OMIM:618580 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Microgn... |
OMIM:605039 |
Ohdo Syndrome, X-Linked |
|
Depressed nasal bridge, Joint hypermobility, Hearing impairment, Hiatus hernia, Micrognathia, Pro... |
OMIM:300895 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Anteverted nares, Prom... |
OMIM:618316 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, At... |
OMIM:620292 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Lymphedema, Patent ductus arteriosus, Bulbous... |
OMIM:616737 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Dental crowding, Anteverted nares, Sagittal craniosynostos... |
OMIM:145420 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Absent ... |
ORPHA:990 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Prominent nasal bridge, Polyhydramnios, Hearing im... |
ORPHA:261349 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi... |
ORPHA:99742 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, D... |
OMIM:300990 |
Macs Syndrome |
|
Joint laxity, Irregular dentition, Palpebral edema, Micrognathia, Osteoporosis, Gingival overgrow... |
OMIM:613075 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Depressed nasal bridge, Micrognathia, Aggressive behavior, Promi... |
OMIM:619695 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,... |
ORPHA:247262 |
Peroxisome Biogenesis Disorder 2B |
|
High, narrow palate, Anteverted nares, High palate, Wide nasal bridge |
OMIM:202370 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Calcaneal epiphyseal stippling, Cleft soft palate, Polyhydramnios, Micrognathia, C... |
OMIM:117650 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Abnormality of the dent... |
OMIM:617952 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Wide mouth, Joint hyperflexibility, Large earlobe, Hypop... |
ORPHA:2715 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Micrognathia, Carious teeth, Pericardial effusion, Alveolar ridge overgrowth, Wid... |
OMIM:620070 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Anasarca |
OMIM:123550 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Polyhydramnios, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death, ... |
OMIM:618810 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasal b... |
ORPHA:1522 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Depressed nasal bridge, Polyhydramnios, Micrognathia, Wide nasal bridge, Protruding ear |
ORPHA:2256 |
X-Linked Intellectual Disability, Najm Type |
|
Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Long philtrum, Macrotia |
ORPHA:163937 |
Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge, Narrow mouth |
ORPHA:324581 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Prominent nasal bridge, Abnormality of the nose, U... |
ORPHA:897 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Micrognathia, External ear malformation, Patent ductus arteriosus, Wide n... |
ORPHA:251071 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, M... |
ORPHA:2282 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Sensorineural hearing impai... |
OMIM:154230 |
Hengel-Maroofian-Schols Syndrome |
|
Wide nasal bridge, Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower lip... |
OMIM:619641 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Patent ductus arterios... |
OMIM:164210 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, High palate, Low-set ea... |
OMIM:619185 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Anasarca, Ascites, Osteoporosis |
OMIM:203700 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited knee flexion, W... |
OMIM:311300 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Anteverted nares, High palate, Wide nasal bridge |
ORPHA:50812 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Repetitive c... |
ORPHA:513456 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Prominent nose, Cleft lip, Bulbou... |
OMIM:301022 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Polyhydramnios, Micrognathia, Lymphedema, Alveolar ridge overgrowth, Cl... |
OMIM:235255 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Wide nasal bridge, Low-set ears, Dysphagia |
ORPHA:89844 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abnormality of t... |
OMIM:300968 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, Sensorineural hearing impairmen... |
OMIM:614230 |
Cog5-Cdg |
|
Posteriorly rotated ears, Camptodactyly of finger, Prominent nose, Sensorineural hearing impairme... |
ORPHA:263487 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin, Micrognathia, Abnormality of the dentition, Sensorineural hearing imp... |
ORPHA:85321 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Prominent nose, Cleft... |
OMIM:616300 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Impulsivity, Micrognathia, High, narrow palate, Macrotia, Abnormality of dental... |
ORPHA:96092 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Cleft upper lip, Hiatus hernia, ... |
OMIM:304050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... |
OMIM:619227 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Eosinophilic infiltration o... |
OMIM:615582 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... |
OMIM:113650 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... |
OMIM:229400 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... |
ORPHA:2136 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Polyhydramnios, Protruding tongue, Micrognathia, Cupp... |
OMIM:617062 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Broad nasal tip, Underdev... |
ORPHA:438216 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Limitation of joint mobility, Flexion contracture, Wide n... |
ORPHA:1865 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate,... |
ORPHA:989 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Humeroradial synostosis, Cleft palate, Low-set ears, N... |
OMIM:251230 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Anteverted nares, Depressed nas... |
ORPHA:1512 |
Al-Gazali-Bakalinova Syndrome |
|
Depressed nasal bridge, Lymphedema, Wide nasal bridge, Low-set ears, Malar flattening, Triangular... |
OMIM:607131 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Joint stiffness, Micrognathia, Wide nasal br... |
ORPHA:2510 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Joint hypermobility, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Sh... |
OMIM:617333 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophag... |
ORPHA:958 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mou... |
OMIM:612731 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Micrognathia, Wide nasal bridge, High palate, Agitation, Low-set ears, ... |
OMIM:270450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Contracture of the proximal i... |
OMIM:300998 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Macrotia, Wide nasal br... |
OMIM:613026 |
Mosaic Trisomy 1 |
|
Microretrognathia, Depressed nasal bridge, Camptodactyly of finger, Polyhydramnios, Abnormal pinn... |
ORPHA:1692 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Poster... |
OMIM:135500 |
Witteveen-Kolk Syndrome |
|
Glue ear, Polyhydramnios, Uplifted earlobe, High, narrow palate, Protruding ear, Intracranial hem... |
OMIM:613406 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Depressed nasal bridge, Posteriorly rotated ears, Broad na... |
OMIM:617694 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose |
OMIM:618437 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, ... |
OMIM:247200 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Anteverted nares, Depressed nasal bridge, Narrow philtrum, Thick lower lip vermilion, Wide nasal ... |
ORPHA:163654 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Thin upper lip vermilion, Hip contracture, Posteriorly rotated ears, Broad nasa... |
OMIM:619194 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Wide nasal bridge |
ORPHA:352530 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Underdeveloped nasal alae, Patent ductus arteriosus, Aplasia/Hypoplasia of the ea... |
ORPHA:2637 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Wid... |
OMIM:157980 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... |
OMIM:604757 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Wide anterior fontanel, Patent du... |
ORPHA:3338 |
3C Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Micrognathia, High, narrow palate, Wide nasal bri... |
ORPHA:7 |
Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Micrognathia, Long nose, Thick lo... |
ORPHA:2135 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Joint laxity, Vertebral fusion, Anteve... |
OMIM:268310 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Carious teeth, Wide nasal bridge, Abnormality of the sen... |
ORPHA:377 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in... |
ORPHA:52429 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Polyhydramnios, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Open mout... |
OMIM:611087 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Narrow... |
OMIM:275210 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge, Anal atresia |
OMIM:309620 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, W... |
ORPHA:85199 |
Focal Facial Dermal Dysplasia Type Iii |
|
Depressed nasal ridge, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Anal atresia |
ORPHA:1807 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Sensorineural hearing impairment, Wide nasal bridge, High palate, Low-set ears |
OMIM:607906 |
Dominant Beta-Thalassemia |
|
Depressed nasal bridge, Abnormality of the dentition, Malar prominence, High-output congestive he... |
ORPHA:231226 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, Widely spaced t... |
OMIM:617102 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Lymphedema, Submucou... |
ORPHA:1340 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft p... |
OMIM:615465 |
Charge Syndrome |
|
Polyhydramnios, Hypoplasia of the semicircular canal, Abnormality of bone mineral density, Compul... |
ORPHA:138 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia, Wide nasal bridge, Sensorineural hearing impairment |
OMIM:609924 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous cleft hard palate, Wid... |
OMIM:619103 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Abnormal repetitive mannerisms, Oppositional defiant disorder, Hyp... |
ORPHA:580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Underdeveloped nasal alae, Increased nuchal translucency, Wide nasa... |
ORPHA:453499 |
Sclerosteosis 1 |
|
Mandibular prognathia, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusion, Wide nasa... |
OMIM:269500 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
Huntington Disease-Like 1 |
|
Abnormal posturing |
ORPHA:157941 |
Chromosome 18P Deletion Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Wide nasal bridg... |
OMIM:146390 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostos... |
ORPHA:2756 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nasal bridge |
ORPHA:2229 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Anteverted nares, Wide nasal bridge, Long philtrum |
OMIM:312170 |
Short Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic bone morpholo... |
ORPHA:3163 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Aganglionic megacolon, Intestinal ... |
ORPHA:2059 |
Spinocerebellar Ataxia 47 |
|
High palate, Wide nasal bridge |
OMIM:617931 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Oligodontia, Conductive hearing impairment, Spina bifida oc... |
ORPHA:1826 |
Filippi Syndrome |
|
Wide nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge, Thin vermilion b... |
ORPHA:3255 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Wide nasal bridge, Cleft palate |
ORPHA:1797 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Sialuria |
|
Smooth philtrum, Thin upper lip vermilion, High, narrow palate, Wide nasal bridge, Attention defi... |
ORPHA:3166 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Flexion contracture, Wide nasal bridge, Abnormality of primary teeth, Gingivitis, Joi... |
ORPHA:75496 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Tracheobronchomalacia, Protruding ear, Microdontia, Bif... |
OMIM:613458 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Palpebral edema, Prominent nasal bridge, Nonimmune hydrops fetalis, Lymphe... |
OMIM:137940 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Depressed nasal bridge, Delayed eruption of primary teeth, Microg... |
OMIM:119600 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Aortic regurgitation, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut ... |
ORPHA:2326 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Mandibular prognathia, Thick lower lip vermilion, Anosmia, Wide nasal bridge |
OMIM:210745 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosy... |
ORPHA:369837 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:613451 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... |
ORPHA:1942 |
Ogden Syndrome |
|
Micrognathia, Lymphedema, Deep philtrum, Ventricular tachycardia, Protruding ear, High palate, Sh... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Esophageal diverticulum, Hamartom... |
OMIM:617925 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior,... |
ORPHA:529962 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Micrognathia, Underdeveloped nasal alae, Sensorineural h... |
OMIM:269880 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Micrognathia, Broad nasal tip, Retinal telangiectasia, Conductive hearing ... |
OMIM:620155 |
Holoprosencephaly |
|
Deep philtrum, Depressed nasal ridge, Absent nares, Aplasia/Hypoplasia involving the nose, Anteve... |
ORPHA:2162 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Posteriorl... |
OMIM:601088 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Palpebral edema, Transient ischemic attack, Micrognathia, Joint stiffness, Prominent n... |
ORPHA:2995 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Non-midline cleft lip, Wi... |
ORPHA:1908 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Recurrent upper respirato... |
ORPHA:261534 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614749 |
Opitz Gbbb Syndrome |
|
Natal tooth, Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cleft li... |
ORPHA:2745 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Downturned corners of mouth... |
ORPHA:2075 |
Branchio-Oculo-Facial Syndrome |
|
Broad nasal tip, Deep philtrum, Non-midline cleft lip, Wide nasal bridge, Orofacial cleft, Tooth ... |
ORPHA:1297 |
Familial Benign Copper Deficiency |
|
Deep philtrum, Wide nasal bridge |
ORPHA:1551 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeveloped nasal alae, Sens... |
ORPHA:90024 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, High palate, Short philtrum, Ch... |
ORPHA:798 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Wide nasal bridge, Fixated interests, Tics, Attention deficit hyperactivity ... |
OMIM:617788 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
3Q29 Microduplication Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft palate, E... |
ORPHA:251038 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Exaggerated cupid's bow, High palate, Wide nasal bridge |
OMIM:620316 |
Beta-Thalassemia Major |
|
Depressed nasal bridge, Abnormality of the dentition, Malar prominence, High-output congestive he... |
ORPHA:231214 |
Frontometaphyseal Dysplasia 2 |
|
Elbow contracture, Deep philtrum, High palate, Short philtrum, Conductive hearing impairment, Bif... |
OMIM:617137 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bifid n... |
OMIM:619343 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, D... |
OMIM:619680 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death, Malar fl... |
OMIM:224410 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micrognathia, Broad nasal tip, Deep philtrum, Wide nasal bridge, High palate, Tongue fasciculatio... |
OMIM:614969 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge, Long philtrum |
ORPHA:2158 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Thin upper lip vermilion, Aggressive behavior, Osteoarthritis, Subdural he... |
OMIM:619714 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Wide nasal bridge,... |
OMIM:243605 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Broad nasal tip, Underdeveloped nasal alae, High, narrow palate, Wide nasal bridge... |
OMIM:272950 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Polyhydramnios, Micrognathia, Prominent nose, ... |
ORPHA:3047 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:300749 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Anteverted nares, Wide nasal bridge, Hypertension, Arrhythmia, Long philtrum, ... |
OMIM:614052 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Advanced eruption of... |
OMIM:615873 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Choanal stenosis, Seve... |
OMIM:620186 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Patent ductus arteriosus, Aplasia/Hypoplasia of the inner ear, Cl... |
ORPHA:2306 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mo... |
ORPHA:168572 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate, ... |
OMIM:613309 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Depressed nasal bridge, Posteriorly rotated ears, Accessory oral frenulum, Micrognath... |
OMIM:266920 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing |
ORPHA:216866 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Submucous cleft hard palate, Ant... |
OMIM:612863 |
Pyruvate Dehydrogenase Deficiency |
|
High palate, Wide nasal bridge, Osteolytic defects of the middle phalanx of the 4th toe, Long phi... |
ORPHA:765 |
Perlman Syndrome |
|
Distal ileal atresia, Tented upper lip vermilion, Everted upper lip vermilion, Depressed nasal br... |
OMIM:267000 |
Arthrogryposis Multiplex Congenita 5 |
|
Anteverted nares, Cardiac arrest, Polyhydramnios, Micrognathia, Flexion contracture, Elbow flexio... |
OMIM:618947 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Micrognathia, Absent earlobe, Fl... |
OMIM:130070 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Wide nasal bridge |
OMIM:610127 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... |
OMIM:614609 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Thin upper lip vermilion, Long nose, Flexion contracture, Wide nasal bridge, High palate, Camptod... |
OMIM:617146 |
Isolated Exencephaly |
|
Depressed nasal bridge, Polyhydramnios, Abnormal facial skeleton morphology, Low-set ears, Hypopl... |
ORPHA:563612 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Stenosis of the external auditory canal, Cleft soft palate, Polyhydramnios, Micrognathia |
ORPHA:93316 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Prominent nose, Micrognathia, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... |
OMIM:616430 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set, posteriorl... |
ORPHA:363611 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Depressed nasal bridge, Craniosynostosis, Micrognathia, Polyhydramnios, Patent duct... |
OMIM:613610 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Underde... |
OMIM:311200 |
Hurler Syndrome |
|
Aortic regurgitation, Anteverted nares, Depressed nasal bridge, Joint stiffness, Broad nasal tip,... |
OMIM:607014 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anteverted nares, Depressed nasal bridge, Delayed epiphyseal ossification, Thick lower lip vermil... |
OMIM:611717 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Edema, Left atrial enlarg... |
OMIM:212093 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Lymphede... |
ORPHA:487796 |
Sialuria |
|
Thin upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Attention deficit hyperac... |
OMIM:269921 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Macrotia, Gastritis, Wide nasal bridge, Micrognathia |
ORPHA:2575 |
Duane Retraction Syndrome |
|
Narrow internal auditory canal, Anteverted nares, Micrognathia, External ear malformation, Sensor... |
ORPHA:233 |
Feingold Syndrome 1 |
|
Jejunal atresia, Anteverted nares, Polyhydramnios, Micrognathia, Tricuspid stenosis, Esophageal a... |
OMIM:164280 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia |
OMIM:606851 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Attention deficit h... |
OMIM:620073 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Posteriorly rotated ears, Elbow contracture, Camptodactyly of finger, Micrognath... |
OMIM:208150 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Bulbous nose, Sensorineur... |
ORPHA:488632 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Wide nasal bridge, Cleft palate |
ORPHA:66629 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Prominent nasal bridge, Micrognathia, Carious teeth, Br... |
OMIM:223370 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Convex nasal ridge |
OMIM:619793 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Tricuspid regurgitation, Impulsivity, Micrognathia, Aggressive behavior... |
ORPHA:73223 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of... |
ORPHA:1449 |
Retinitis Pigmentosa |
|
Anteverted nares, Wide nasal bridge |
ORPHA:791 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft ... |
ORPHA:97297 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Conductive hearing impairment, Sensorineural hearing impairment, Microtia... |
OMIM:618500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Conductive hearing impairment, Thickened hel... |
OMIM:607872 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Depressed nasal bridge, Palpebral ede... |
ORPHA:99843 |
Noonan Syndrome 6 |
|
Depressed nasal bridge, Polyhydramnios, Edema, Sensorineural hearing impairment, Wide nasal bridg... |
OMIM:613224 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Joint stiffness, Wide nasa... |
ORPHA:2062 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Narrow mouth, Patent ductus arteriosus, Wide nasal bridge, ... |
OMIM:613457 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Narrow nasal bridge, Dental crowding, Left ventricular noncompaction cardiomyopathy... |
OMIM:300967 |
Immunodeficiency 59 And Hypoglycemia |
|
Malabsorption, Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Hig... |
OMIM:233600 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Micrognathia, Ly... |
OMIM:153400 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow... |
ORPHA:3426 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Maternal Phenylketonuria |
|
Hyperactivity, Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge, High palate... |
ORPHA:2209 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Camptodactyly of finger, Sensorineural heari... |
ORPHA:217085 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Abnormal external nose morphology, Hypoplasia of the zygomatic bone, H... |
ORPHA:556955 |
Scarf Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Wide nasal bridge, Lambdoidal craniosynostosis,... |
OMIM:312830 |
Deafness, X-Linked 7 |
|
Wide nasal bridge |
OMIM:301018 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Oligodontia,... |
OMIM:618727 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Osteoporosis, Gingival overgrowth, Wide nasal bridge, Thin vermil... |
OMIM:607330 |
Metaphyseal Acroscyphodysplasia |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:1240 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Malabsorption, Micrognathia, Wide nasal bridge, Thin vermilion border... |
ORPHA:99812 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Microretrognathia, Anteverted nares, Cleft upper lip,... |
OMIM:229850 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Knee flexion contracture, High palate, Wrist flexion contracture, H... |
OMIM:268300 |
Steel Syndrome |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Carpal synostosis, Limited... |
OMIM:615155 |
Williams Syndrome |
|
Osteopenia, Myocardial infarction, Micrognathia, Periorbital edema, Rectal prolapse, Protruding e... |
ORPHA:904 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Mixed hearing impairment, Cleft upper lip, Wide nasal bridge, Cleft palate... |
OMIM:201180 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Wide nasal bridge, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:1970 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:615803 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Camptodactyly of finger, Sensorineural heari... |
ORPHA:217093 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Bifid uvula, ... |
OMIM:620330 |
Joubert Syndrome 28 |
|
Wide nasal bridge |
OMIM:617121 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... |
OMIM:618332 |
Waardenburg Syndrome, Type 2A |
|
Wide nasal bridge, Underdeveloped nasal alae |
OMIM:193510 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Polyhydramnios, Micrognathia, Wide nasal brid... |
OMIM:612651 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... |
OMIM:619179 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Micrognathia, Pierre-Rob... |
ORPHA:263508 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Prominent nasal b... |
ORPHA:3440 |
Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Tricuspid ... |
OMIM:614557 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Micr... |
DECIPHER:81 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Carious teeth, Cupped ear, Dental malocclusion, Wide... |
OMIM:615560 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Osteopenia, Myocardial infarc... |
OMIM:150230 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, Wide nasal bridge, Recurrent aphthous stomatitis, Long philtrum |
OMIM:615966 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, ... |
OMIM:154500 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Hearing impairment, Micrognathia, B... |
OMIM:309500 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Anteverted nares, Micrognathia, Dental malocclusion, Alveolar ridge overg... |
ORPHA:444072 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Bulbous nose, Sensorineural hearing impairment, Wide nasal bridge, Join... |
ORPHA:250989 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Short philtrum, Conductive hearing impairment, Chronic otitis media... |
ORPHA:567 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing |
OMIM:128100 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, Pierre-R... |
OMIM:268305 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Depressed nasal bridge, Thin lower lip vermilion, Wide nasal bridge, Arthritis |
OMIM:613328 |
B4Galt1-Cdg |
|
Thin upper lip vermilion, Edema, Wide nasal bridge, Low-set ears, Long philtrum |
ORPHA:79332 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Hearing impairment, Micrognathia, Patent ductus arteriosus, Submucous cleft har... |
OMIM:301043 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Low-set, posteriorly rotated ears, Multiple joint contractures, Camptodactyly ... |
ORPHA:468631 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Hearing abnormality, Cupped ear, Wide nasal bridge, Anteriorly placed anus, Microti... |
ORPHA:1352 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Pierre-Robin sequence, Alveola... |
ORPHA:2886 |
Joubert Syndrome 3 |
|
Open mouth, Anteverted nares, Wide nasal bridge |
OMIM:608629 |
Cantú Syndrome |
|
Anteverted nares, Patent ductus arteriosus, Osteoporosis, Wide nasal bridge, Wide mouth, Thick ve... |
ORPHA:1517 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Anteverted nares, Recurrent fractures, Depressed nasal bridge, Polyhydramnios, Patent... |
OMIM:618188 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Bulbous nose, Flexion contracture, Wide nasal bridge, Wide mouth, Prominent antihelix,... |
OMIM:613744 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Camptodactyly of finger, Cleft upper lip, Wide nasal bridge, Cleft palate, Low-s... |
ORPHA:2008 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced t... |
ORPHA:79500 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Open bite, Deep philtrum,... |
OMIM:115150 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Micrognathia, Periorbital edema, Pyloric stenosis, Rectal prolapse, Wid... |
OMIM:613177 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtr... |
ORPHA:457279 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Violent behavior, Depressed nasal bridge, Uplifted earlobe, Cleft lip,... |
OMIM:280000 |
Keutel Syndrome |
|
Sinusitis, Depressed nasal bridge, Cartilaginous ossification of nose, Calcification of the auric... |
OMIM:245150 |
Geleophysic Dysplasia 3 |
|
Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited wrist movement, Polyhyd... |
OMIM:617809 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis, Depressed nasal bridge, Wide nasal bridge |
OMIM:614602 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Micrognathia, High, narrow palate, Flexion contracture, Wide nasal bridg... |
ORPHA:284979 |
Megalencephaly |
|
Wide nasal bridge |
ORPHA:2477 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Wide nasal bridge, Dep... |
OMIM:614083 |
Hurler Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Angina pectoris, Limitation of... |
ORPHA:93473 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Prominent nose, Abnormal periodontium morphology, High palate, Joint laxity, Low-set,... |
ORPHA:480880 |
Martin-Probst Syndrome |
|
Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental malocclusion, W... |
OMIM:300519 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nose, Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Wide nasal br... |
OMIM:617303 |
Jung Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:2321 |
Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Wide nasal bridge, Lacunar stroke, Macroglossia, Oligodontia, Protein-... |
OMIM:618440 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Advanced eruption of teeth, Low-set, posteriorly rotated ears, Abno... |
ORPHA:818 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Depressed nasal bridge, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:617561 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Self-mutilation, Bifid uvula, Microretrognathia, Hyperactivity, An... |
OMIM:270400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Protruding ear, High palate, Short philtrum, Tics, Compulsive behaviors, Oti... |
OMIM:619475 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Wide nasal bridge, Dysphagia, High ... |
ORPHA:319182 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Orofacial cleft, Thin vermil... |
ORPHA:1519 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aganglionic megacolon, Antevert... |
ORPHA:175 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Anteverted nares, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, Wid... |
OMIM:218330 |
Multiple Synostoses Syndrome 1 |
|
Thin upper lip vermilion, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal syno... |
OMIM:186500 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Joint hypermobility, Carious teeth, Wid... |
OMIM:278250 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Cleft maxillary alveolar ridge, Tics, Spina bifida occulta, Microretrognathia, Jo... |
ORPHA:508488 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibril... |
ORPHA:284984 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Posteriorly ... |
OMIM:614976 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... |
OMIM:603457 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cleft upper lip, Ham... |
OMIM:109400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Short nose, Convex nasal ... |
OMIM:619321 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Absent brainstem auditory responses, Sensorineural hearing impairme... |
ORPHA:52368 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Depressed nasal bridge, Transient ischemic attack, Bulbous nose, Wide nasal bridge, H... |
OMIM:242900 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Depressed nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:614887 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Bundle branch block, Prolonged QT interval, Anteverted n... |
ORPHA:373 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Hyperactivity, Depressed nasal bridge, Transient ischemic attac... |
OMIM:600268 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thin upper lip vermilion, Aggressive behavior, Wide nasal bridge, Cardiomyopathy, High palate, Lo... |
ORPHA:572798 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad... |
ORPHA:268261 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Carious teeth, Long n... |
OMIM:619522 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, M... |
OMIM:619503 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Mic... |
OMIM:616734 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Malabsorption, Carious teeth, Abnormality of the dentition, Joint stiffnes... |
ORPHA:93 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Delayed ossification of carpal bones, Limited elbow extension, Joint l... |
OMIM:300106 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Wide nasal bridge, Delayed eruption of permane... |
ORPHA:521445 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Cleft upper lip, Micrognathia, Os... |
ORPHA:280 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Aortic regurgitation, Microgn... |
ORPHA:508498 |
Humeroradial Synostosis |
|
Wide nasal bridge |
OMIM:236400 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Bulbous nose, Macrotia, Wide nasal bridge, Protruding ear, Right bundle... |
OMIM:617403 |
Omodysplasia 1 |
|
Depressed nasal bridge, Micrognathia, Limited knee flexion, Limited hip movement, Limited knee fl... |
OMIM:258315 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Sensori... |
OMIM:612541 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Submucous cleft hard palate, Depressed nasal ridge, Cleft palate, Th... |
ORPHA:2671 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, High palate, Low-set ears |
OMIM:104350 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog... |
ORPHA:141099 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Micrognathia, High, narrow palate, Genera... |
OMIM:619472 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Dental crowding, Depressed nasal ... |
OMIM:219000 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Abnormal pinna morphology, Micrognathia, Cleft upper lip, Sensorineural hearing... |
OMIM:194190 |
Microphthalmia, Syndromic 9 |
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Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Low-set ears, Neona... |
OMIM:601186 |
Congenital Disorder Of Glycosylation, Type Iim |
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Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Hypertension, Fused teeth, Hig... |
OMIM:300896 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Aggr... |
ORPHA:466950 |
Mucopolysaccharidosis, Type X |
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Diastema, Open bite, Wide nasal bridge, Widely spaced teeth, Long philtrum |
OMIM:619698 |
Hermansky-Pudlak Syndrome 2 |
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Thin upper lip vermilion, Posteriorly rotated ears, Carious teeth, Wide nasal bridge, Periodontit... |
OMIM:608233 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Dental crowding, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Polyhydramnios, Recta... |
OMIM:617157 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Aggr... |
ORPHA:466943 |
Acromelic Frontonasal Dysostosis |
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Cleft upper lip, Broad nasal tip, Bifid nasal tip, Wide nasal bridge, Cleft palate, Midline defec... |
OMIM:603671 |
Walker-Warburg Syndrome |
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Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Diamond-Blackfan Anemia |
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Depressed nasal bridge, Cleft soft palate, Cleft lip, Wide nasal bridge, High palate, Adenocarcin... |
ORPHA:124 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Wide nasal bridge, Depres... |
OMIM:619306 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microretrognathia, Depressed nasal bridge, Wide nasal bridge, High palate, Bilateral sensorineura... |
OMIM:619418 |
Ablepharon-Macrostomia Syndrome |
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Microtia, third degree, Abnormal nasal morphology, Microtia, first degree, Anteriorly placed anus... |
OMIM:200110 |
Monosomy 22Q13.3 |
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Hyperactivity, Dental crowding, Palpebral edema, Lymphedema, Hair-pulling, Bulbous nose, Dental m... |
ORPHA:48652 |
Craniofrontonasal Syndrome |
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Joint laxity, Abnormality of the dentition, Cleft upper lip, Bifid nasal tip, Wide nasal bridge, ... |
OMIM:304110 |
Pitt-Hopkins Syndrome |
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Deep philtrum, Flared nostrils, Cupped ear, Wide nasal bridge, Wide mouth, Self-injurious behavio... |
OMIM:610954 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Osteopenia, Anteverted nares, Depressed nasal bridge, Palpebral edema, Broad nasal tip, Thin lowe... |
ORPHA:221139 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Prominent nose, Wide nasal bridge, Wide mouth, Long philtrum, Malar flattening |
ORPHA:1292 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Mandibular prognathia, Polyhydramnios, Posterior helix pit, Exaggerated median tongue furrow, Ant... |
OMIM:312870 |
Waardenburg Syndrome, Type 1 |
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Mandibular prognathia, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi... |
OMIM:193500 |
Piebaldism |
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Aganglionic megacolon, Wide nasal bridge, Long philtrum |
ORPHA:2884 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Contracture of the distal interphalang... |
ORPHA:83617 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Exaggerated cupid's bow, Posteriorly rotated ears, Broad nasal tip, Patent ductus arteriosus, Cup... |
OMIM:619480 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Pate... |
OMIM:301068 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Anteverted nares, Wide nasal bridge |
ORPHA:2518 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Thin upper lip vermilion, Wide nasal bridge |
OMIM:614376 |
Kabuki Syndrome 1 |
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Anal stenosis, Posteriorly rotated ears, Intestinal malrotation, Joint hypermobility, Micrognathi... |
OMIM:147920 |
Kosaki Overgrowth Syndrome |
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Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge |
OMIM:616592 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Micrognathia, Flexion co... |
OMIM:601803 |
Mietens Syndrome |
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Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Non-Distal Deletion 10Q |
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Wide nasal bridge |
ORPHA:1581 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Craniosynostosis, Micrognathia, Cupped ear, Wide nasal bridge, Overfolded helix, Knee flexion con... |
OMIM:609945 |
Fraser Syndrome |
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Low-set, posteriorly rotated ears, Anal stenosis, Cleft ala nasi, Dental crowding, Depressed nasa... |
ORPHA:2052 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Patent duct... |
OMIM:235730 |
Ring Chromosome 13 Syndrome |
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Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Wide nasal brid... |
ORPHA:96176 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Anal stenosis, Wide nose, Prominent nasal bridge, Pol... |
OMIM:606170 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Depressed nasal bridge, High palate, Wide nasal bridge |
OMIM:110100 |
Lenz-Majewski Hyperostotic Dwarfism |
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Abnormal dental enamel morphology, Choanal atresia, High, narrow palate, Submucous cleft hard pal... |
ORPHA:2658 |
Dubowitz Syndrome |
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Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Abnormality of the dentition, M... |
ORPHA:235 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Protruding ear, Thick nasal alae, Joint laxity, Abnormal dental morphology, Wide nasal bridge, Ca... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Protruding ear, Thick nasal alae, Joint laxity, Abnormal dental morphology, Wide nasal bridge, Ca... |
ORPHA:363958 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Anteverted nares, Tarsal synostosis, Posteriorly rotated ears, Conductive hearing i... |
OMIM:157800 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:2152 |
Microphthalmia With Linear Skin Defects Syndrome |
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Wide nose, Tricuspid regurgitation, Abnormal dental enamel morphology, Hearing impairment, Microg... |
ORPHA:2556 |
1P36 Deletion Syndrome |
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Depressed nasal ridge, Conductive hearing impairment, Abnormal repetitive mannerisms, Abnormality... |
ORPHA:1606 |
Acromesomelic Dysplasia 4 |
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Mandibular prognathia, Third degree atrioventricular block, Wide nasal bridge, Low-set ears |
OMIM:619636 |
Wiedemann-Rautenstrauch Syndrome |
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Micrognathia, Flexion contracture, Downturned corners of mouth, Small earlobe, Anteverted nares, ... |
OMIM:264090 |
Adult Syndrome |
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Prominent nasal bridge, Abnormal dental morphology, Wide nasal bridge, Abnormality of the dentition |
ORPHA:978 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Short lingual frenulum, Depressed nasal bridge, Posteriorly rotated ears, Flexion contracture, Wi... |
OMIM:619479 |
Jacobsen Syndrome |
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Low-set, posteriorly rotated ears, Anteverted nares, Intestinal malrotation, Pyloric stenosis, Ap... |
ORPHA:2308 |
Lig4 Syndrome |
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Telangiectasia, Chronic sinusitis, Wide nasal bridge, Prominent nose |
OMIM:606593 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:261552 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Sensorineural hearing i... |
ORPHA:163746 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:261537 |
Lymphedema-Hypoparathyroidism Syndrome |
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Wide nasal bridge |
OMIM:247410 |
Vici Syndrome |
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Abnormal posturing |
OMIM:242840 |
Yunis-Varon Syndrome |
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Polyhydramnios, Micrognathia, Hydrops fetalis, Protruding ear, High palate, Short philtrum, Small... |
OMIM:216340 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Multiple joint contractures, Depressed nasal bridge, Hair-pulling, Wide nasal brid... |
ORPHA:447997 |
Coffin-Siris Syndrome 12 |
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Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Celi... |
OMIM:619325 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Prominent nasal bridge, Persistence of primary teeth, Broad nasal tip,... |
OMIM:300166 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Abnormality of canine, Wide nasal b... |
ORPHA:477993 |
Noonan Syndrome With Multiple Lentigines |
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Low-set, posteriorly rotated ears, Bundle branch block, Myocardial infarction, Sensorineural hear... |
ORPHA:500 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Submucous cleft hard palate, Narrow nose |
OMIM:618891 |
Campomelic Dysplasia |
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Irregular dentition, Depressed nasal bridge, Carious teeth, Submucous cleft hard palate, Recurren... |
OMIM:114290 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
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Thin upper lip vermilion, Anteverted nares, Wide nasal bridge, Downturned corners of mouth, Widel... |
OMIM:616728 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Thin upper lip vermilion, Anteverted nares, Abnormal pinna morphology, Hearing impairment, Anteve... |
OMIM:617641 |
Shprintzen Omphalocele Syndrome |
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Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Anal atresia |
OMIM:182210 |
Dahlberg-Borer-Newcomer Syndrome |
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Wide nasal bridge |
ORPHA:1563 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Anteverted nares, Micrognathia, Wide nasal bridge, Anteriorly placed anus, Hypertension, Mitral r... |
OMIM:220111 |
Craniotubular Dysplasia, Ikegawa Type |
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Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Sclerosis of skull base, Long phi... |
OMIM:619727 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Wide nose, Anteverted nares, Edema, Lymphedema, Wide nasal bridge, Protruding ear, Thick vermilio... |
ORPHA:2526 |
Monosomy 13Q14 |
|
Prominent nasal bridge, Micrognathia, Wide nasal bridge, Protruding ear, Low-set ears, Thickened ... |
ORPHA:1587 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Prominent nose, Long nose, Bulbous nose, Submucous cleft hard palate, Cleft palate, Thick vermili... |
ORPHA:2636 |
Peroxisome Biogenesis Disorder 1B |
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Epiphyseal stippling, Convex nasal ridge, Wide nasal bridge, Sensorineural hearing impairment |
OMIM:601539 |
Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:2461 |
Pontocerebellar Hypoplasia Type 7 |
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Depressed nasal bridge, Micrognathia, Wide nasal bridge, High palate, Macrotia, Thick upper lip v... |
ORPHA:284339 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
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Aortic regurgitation, Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Lop ear, Anal at... |
ORPHA:140952 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Anteverted nares, Wide nasal ridge, Abnormality of the den... |
ORPHA:3455 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Long philtrum |
ORPHA:2211 |
Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Wide nasal bridge |
ORPHA:30 |
Limb Body Wall Complex |
|
Depressed nasal bridge, Choanal atresia, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal int... |
ORPHA:2369 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Hypertensi... |
ORPHA:1435 |
Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Patent ductus arteriosus, Wide nasal bridge, Co... |
ORPHA:84064 |
Norrie Disease |
|
Narrow nasal bridge, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, A... |
ORPHA:649 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Abnormal pinna morphology, Humeroradial synostosis, Elbow flexion contracture, Wide nasal bridge,... |
OMIM:276820 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Submucous cleft hard palate,... |
ORPHA:1662 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Intestinal malrotation, Pericardial effusion, Patent ductus arteriosus, Wide nasal b... |
OMIM:618280 |