17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the dentition, Microcephaly, High palate, Short philtrum, Short ... |
ORPHA:217340 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate |
ORPHA:2015 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia, Obesity |
OMIM:300577 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Weaver-Williams Syndrome |
|
Decreased body weight, Microcephaly, Cleft palate, Narrow mouth |
ORPHA:3448 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr... |
OMIM:617752 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Microcephaly, Joint hyperflexibility, High palate, Everted lower lip verm... |
ORPHA:1695 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Short nose, Open mouth |
OMIM:613670 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip vermilion, Short philtru... |
ORPHA:2429 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... |
ORPHA:1200 |
Developmental And Epileptic Encephalopathy 73 |
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Narrow nasal bridge, Microcephaly, Flexion contracture, Short nose, Failure to thrive |
OMIM:618379 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age, Primary microcephaly |
OMIM:245570 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge |
OMIM:600252 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Progressive microcephaly, Long philtrum, Short ... |
ORPHA:438178 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip ve... |
ORPHA:261120 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Chromosome 3Q29 Duplication Syndrome |
|
Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Macrocephaly, Short nose |
OMIM:611936 |
Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose... |
OMIM:190440 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... |
ORPHA:1248 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E... |
OMIM:619110 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum |
OMIM:302950 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Microcephaly, Broad philtrum, Prominent median palat... |
OMIM:602342 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... |
OMIM:201550 |
Achondrogenesis |
|
Anteverted nares, Abnormal enchondral ossification, Macrocephaly, Abnormality of bone mineral den... |
ORPHA:932 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Microcephaly, Pr... |
OMIM:613544 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Abnormal soft pa... |
ORPHA:884 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Microcephaly, Wide mouth, Delayed eruption of permanen... |
OMIM:618506 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase... |
OMIM:618761 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Microcephaly, High palate, Long philtrum |
ORPHA:2598 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Chung-Jansen Syndrome |
|
Anteverted nares, Obesity, Thin vermilion border, High palate, Short philtrum, Long philtrum, Sho... |
OMIM:617991 |
Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... |
OMIM:619736 |
Acromicric Dysplasia |
|
Anteverted nares, Joint stiffness, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short n... |
ORPHA:969 |
9q subtelomeric deletion syndrome |
|
Short nose, Microcephaly, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Microcephaly, Narrow mouth, Short nose, Abnormal palate morphology |
ORPHA:1495 |
Perlman Syndrome |
|
Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal upper lip morpholo... |
ORPHA:2849 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate, Microcephaly |
ORPHA:85273 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b... |
OMIM:615716 |
Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Small for gestational... |
OMIM:615583 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Sh... |
OMIM:300558 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingival overgrowth, Redu... |
ORPHA:561 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Joint stiffness, Downturned corners of mouth, Thin vermilion b... |
ORPHA:1895 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Microcephaly, Thick vermilion border, Long philtrum |
ORPHA:833 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, Flexion contracture, D... |
ORPHA:391372 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... |
ORPHA:1529 |
Achondrogenesis Type 1A |
|
Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Macrocephaly, Long philt... |
ORPHA:93299 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
Temple Syndrome |
|
Relative macrocephaly, Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational... |
OMIM:616222 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Short nose, Narrow mouth |
ORPHA:217385 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Depressed nasal bridge, Craniosynostosis, Macrocephaly, Short nose |
OMIM:614732 |
Peho-Like Syndrome |
|
Short nose, Open mouth, Progressive microcephaly |
OMIM:617507 |
Achondrogenesis Type 1B |
|
Anteverted nares, Abnormal enchondral ossification, Macrocephaly, Short nose, Long philtrum |
ORPHA:93298 |
Baker-Gordon Syndrome |
|
Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... |
OMIM:614744 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia |
OMIM:614838 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... |
OMIM:613604 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Microcephaly, Wide mouth, Joint contracture, Short nose, ... |
OMIM:615419 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Joint hyperflexibili... |
ORPHA:1185 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, D... |
OMIM:300958 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Joint stiffness, Microcephaly, Non-midline cleft lip,... |
ORPHA:1915 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Dental cro... |
OMIM:617201 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Obesity, Radioulnar synostosis, Short... |
ORPHA:171839 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Congenital contracture, High palate, Secondary microcephaly, Short nose |
OMIM:615042 |
Desmosterolosis |
|
Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Microcephal... |
OMIM:602398 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Progressive microcephaly, Widely spaced teet... |
OMIM:617865 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Depressed nasal bridge, Microcephaly, Cleft palate, Macrocephaly, Microglossia,... |
OMIM:241800 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Cleft palate, Downturne... |
ORPHA:163649 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... |
OMIM:616331 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Unilambdoid synostosis, Wide nasal bridge, Long philtrum, Short nose, Broad phi... |
OMIM:618577 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Anteverted nares, Fractured radius, Small for gestational age, Microcephaly, Multiple... |
OMIM:616897 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Large for ges... |
OMIM:615398 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Deep philtrum, Dental malocclusion, Contractures of the lar... |
ORPHA:329178 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Microcephaly, Narrow mouth, Short nose |
OMIM:616459 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Cleft palate, Joint hyperflexibility, Long philtrum, Short nose |
ORPHA:90653 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Depressed nasal bridge, Large for gestational age, Obesity, High palate, Biparietal... |
OMIM:605309 |
Tetrasomy 18P |
|
Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Capitate-hamate fusion, Wide nasal bridge, Cleft palate, Narrow mouth, Coronal craniosynostosis, ... |
OMIM:614078 |
Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Knee flexion contracture, High palate, Wrist flexion contracture, Pursed lips, N... |
OMIM:193700 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Anteverted nares, Small for gestational age, M... |
ORPHA:391408 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Microcephaly, Cleft palate, Mac... |
ORPHA:398156 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b... |
ORPHA:401935 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Secondary microcephaly, Long philtrum, Sho... |
OMIM:616420 |
Ohdo Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hypoplasia of teeth, T... |
OMIM:249620 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Microcephaly, Flexion contracture, Osteoporosis, Secondary microcephaly, Short nose, F... |
OMIM:615851 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S... |
OMIM:619356 |
Lowry-Maclean Syndrome |
|
Osteopenia, Choanal atresia, Delayed eruption of primary teeth, Craniosynostosis, Microcephaly, H... |
ORPHA:2409 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Open mouth, Short nose, Joint hypermobility |
OMIM:300143 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Pyloric stenosis,... |
ORPHA:96184 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphyseal stippling, Sh... |
ORPHA:1914 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Cleft upper lip, Depressed nasal ridge, Cleft palate, Short nose |
OMIM:613885 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly |
ORPHA:289266 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the d... |
OMIM:618529 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Macrocephaly, Ob... |
OMIM:620250 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Microcephaly, Thin vermilion border, High palate, Everted lower lip... |
ORPHA:1702 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Microcephaly, Wide nasal bridge, Oro... |
OMIM:243310 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Open bite, Abnor... |
ORPHA:1327 |
Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose,... |
OMIM:614105 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... |
ORPHA:1716 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Obesi... |
OMIM:618430 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Orofacial cl... |
ORPHA:65286 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Generalized joint laxity, High palate, Short philtrum, Microdontia, ... |
ORPHA:251028 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Microcephaly, Wide nasal bridge, Joint contracture, High palate, Short nose, Failure ... |
OMIM:618005 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Microcephaly, Cleft palate, Narrow mouth, Short nose... |
ORPHA:1234 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, A... |
OMIM:617877 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Microcephaly, Wide mouth, Long philtrum, Short nose, Failure to thrive |
OMIM:608776 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth |
ORPHA:93946 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Short nose, Convex nasal ridge, Cleft palate |
ORPHA:2145 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Microcephaly, Flexion contracture, Hyperextensibility at wrists, Hypodontia,... |
ORPHA:544503 |
Tetraploidy |
|
Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Convex nasal ... |
ORPHA:3305 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Recurrent fractures, Craniosynostosis, Joint stiffness, Campto... |
ORPHA:83 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ... |
OMIM:614749 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Macrocephaly, Lymphoid nodular hyperplasia, Short nose |
ORPHA:210548 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density, Downturned corners of mouth, Thin vermilion border, Short philtrum,... |
ORPHA:2983 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Secondary microcephaly, Open mouth, Short nose |
OMIM:618437 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Large for gestational age, Open mouth, Macrocep... |
OMIM:616638 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,... |
ORPHA:2701 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... |
ORPHA:819 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Deep philtrum, De... |
OMIM:613320 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Down Syndrome |
|
Joint laxity, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of th... |
ORPHA:870 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Cleft upper lip, Capitate-hamate fusion, Deep philtrum, Flared nostrils, ... |
OMIM:206920 |
Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Abnormality of th... |
ORPHA:35107 |
3Q29 Microduplication Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep philtrum, Wide nasal bridge, C... |
ORPHA:251038 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge, Microcephaly |
OMIM:616910 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Cleft palate, Short nose, Failure to thrive, Progressive mi... |
OMIM:614261 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Macrocephaly, Short nose, Failure to th... |
OMIM:613735 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Anosmia, Cleft palate |
OMIM:614880 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge, Macrocephaly |
ORPHA:2835 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Advanced ossification of carpal bones, Obesity, Short nose |
OMIM:614613 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Microcephaly, Velopharyngeal ... |
OMIM:614701 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ... |
OMIM:610015 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Decreased skull ossification, Depressed nasal ridge, Macrocephaly |
OMIM:300863 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... |
OMIM:618316 |
Microcephaly 26, Primary, Autosomal Dominant |
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Prominent nasal bridge, Protruding tongue, Microcephaly, Wide nasal bridge, Gingival overgrowth, ... |
OMIM:619179 |
C Syndrome |
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Fused sternal ossification centers, Anteverted nares, Accessory oral frenulum, Microcephaly, Wide... |
OMIM:211750 |
Acrocephalopolydactyly |
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Short nose, Depressed nasal ridge |
ORPHA:221054 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corners of mouth, Macroglossi... |
ORPHA:369891 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
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Joint laxity, Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose, Camptodactyly |
OMIM:615539 |
Johanson-Blizzard Syndrome |
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Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Malabsorption... |
ORPHA:2315 |
Even-Plus Syndrome |
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Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose, Anal atresia |
OMIM:616854 |
Nabais Sa-De Vries Syndrome, Type 1 |
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Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Primary microcephaly, Short nose, S... |
OMIM:618828 |
Cutis Laxa, Autosomal Recessive, Type Iia |
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Anteverted nares, Microcephaly, Carious teeth, High palate, Narrow mouth, Short nose, Failure to ... |
OMIM:219200 |
Microform Holoprosencephaly |
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Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Oculodentodigital Dysplasia |
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Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... |
OMIM:164200 |
Frontofacionasal Dysplasia |
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Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
5Q14.3 Microdeletion Syndrome |
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Short nose, Anteverted nares, Short philtrum, Open mouth |
ORPHA:228384 |
Fetal Trimethadione Syndrome |
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High palate, Short nose, Depressed nasal bridge, Microcephaly |
ORPHA:1913 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous nose, Macroglossia, Eve... |
ORPHA:261144 |
X-Linked Intellectual Disability, Cantagrel Type |
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Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Microcephaly, Deep p... |
OMIM:619833 |
Intellectual Disability-Strabismus Syndrome |
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Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the... |
ORPHA:363528 |
Desbuquois Dysplasia 1 |
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Joint laxity, Depressed nasal bridge, Osteoarthritis, Osteoporosis, Advanced ossification of carp... |
OMIM:251450 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short n... |
OMIM:242860 |
Van Der Woude Syndrome 1 |
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Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cebalid Syndrome |
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Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose |
OMIM:618774 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Depressed nasal bridge, Anteverted nares, Short nose, Coarse metaphyseal trabecularization |
OMIM:618961 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... |
OMIM:619383 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Smooth philtrum, Dental crowding, Intestinal malrotation, Joint hypermobility, Long nose, Carious... |
OMIM:617602 |
Glass Syndrome |
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Smooth philtrum, Anteverted nares, Prominent nasal bridge, Dental crowding, Broad nasal tip, Long... |
OMIM:612313 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Peho Syndrome |
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Anteverted nares, Microcephaly, Open mouth, Flexion contracture, Limitation of joint mobility, Gi... |
ORPHA:2836 |
Pfeiffer Syndrome |
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Depressed nasal bridge, Choanal atresia, Dental crowding, Humeroradial synostosis, Coronal cranio... |
OMIM:101600 |
Fetal Hydantoin Syndrome |
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Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short... |
ORPHA:1912 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Failure t... |
OMIM:616430 |
Orofaciodigital Syndrome Ix |
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Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnormality of the d... |
OMIM:258865 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... |
OMIM:239300 |
Teebi Hypertelorism Syndrome 1 |
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Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
Acrocallosal Syndrome |
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Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Anteverted nares, Underdeveloped nasal alae, Carious teeth, Microcephaly, Wide nasal bridge, Thin... |
OMIM:613026 |
Aarskog-Scott Syndrome |
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Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Cleft upper lip, Wide na... |
OMIM:305400 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal... |
OMIM:613870 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Short nose, Microcephaly, Long philtrum |
OMIM:300887 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Microcephaly, Bulbous nose, Wi... |
OMIM:617061 |
Faciocardiorenal Syndrome |
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Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Failure to ... |
ORPHA:1973 |
Codas Syndrome |
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Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... |
ORPHA:1458 |
Pterygium Colli, Isolated |
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Short nose |
OMIM:177990 |
Carey-Fineman-Ziter Syndrome |
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Anteverted nares, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Cleft pa... |
ORPHA:1358 |
Hypomandibular Faciocranial Dysostosis |
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Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... |
ORPHA:1790 |
Cerebrooculonasal Syndrome |
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U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostos... |
OMIM:605627 |
Acrodysostosis |
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Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Open bite, Depressed nasal r... |
ORPHA:950 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow... |
OMIM:618590 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia |
OMIM:147950 |
Raine Syndrome |
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Natal tooth, Increased bone mineral density, Depressed nasal bridge, Choanal atresia, Protruding ... |
OMIM:259775 |
16P13.11 Microdeletion Syndrome |
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Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... |
ORPHA:261236 |
Trisomy 8Q |
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Camptodactyly of finger, Joint stiffness, Non-midline cleft lip, Bone cyst, Wide nasal bridge, Cl... |
ORPHA:1752 |
Gomez-Lopez-Hernandez Syndrome |
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Anteverted nares, Craniosynostosis, Thin vermilion border, High palate, Short nose, Smooth philtrum |
OMIM:601853 |
Bainbridge-Ropers Syndrome |
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Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under... |
OMIM:615485 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Progressive microce... |
OMIM:617802 |
Toluene Embryopathy |
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Microcephaly, Thin vermilion border, Biparietal narrowing, Short nose, Smooth philtrum |
ORPHA:1920 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Dentinogen... |
ORPHA:166272 |
16P12.1P12.3 Triplication Syndrome |
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High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Short nose, ... |
ORPHA:485405 |
Temtamy Preaxial Brachydactyly Syndrome |
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Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Abnormality of the ... |
ORPHA:363417 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Short nose, Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis |
ORPHA:2547 |
Autosomal Recessive Omodysplasia |
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Depressed nasal bridge, Anteverted nares, Craniosynostosis, Long philtrum, Short nose |
ORPHA:93329 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Microcephaly, T... |
OMIM:616723 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Prominent nasal bridge, Broad nasal tip, Microcephaly, Wide nasal bridge, Progressive microcephal... |
OMIM:300749 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Cleft palate, Orofacial cleft, Radioulnar synostosis, Long philtrum, Sh... |
ORPHA:1988 |
Peho Syndrome |
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Short nose, Tented upper lip vermilion, Open mouth, Progressive microcephaly |
OMIM:260565 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... |
OMIM:610828 |
8P23.1 Microdeletion Syndrome |
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Prominent nasal bridge, Microcephaly, Wide nasal bridge, Obesity, Weight loss, Thin vermilion bor... |
ORPHA:251071 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Dental crowding, Narrow nasal ridge, Premature loss of teeth, Flexion contracture, Hypoplasia of ... |
OMIM:608612 |
Ruvalcaba Syndrome |
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Dental crowding, Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridg... |
ORPHA:3121 |
Schisis Association |
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Small for gestational age, Microcephaly, Tracheoesophageal fistula, Cleft palate, Unilateral clef... |
ORPHA:63862 |
Meier-Gorlin Syndrome 6 |
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Anteverted nares, Depressed nasal bridge, Small for gestational age, Underdeveloped nasal alae, M... |
OMIM:616835 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Small for gestational age, Microcephaly, Recurrent upper respiratory tract infections, Contractur... |
ORPHA:3078 |
Jaberi-Elahi Syndrome |
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Depressed nasal bridge, Joint stiffness, Microcephaly, Triangular mouth, Short nose, Failure to t... |
OMIM:617988 |
Trisomy 12P |
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Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Short ... |
ORPHA:1699 |
Donnai-Barrow Syndrome |
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Short nose, Depressed nasal bridge, Intestinal malrotation, Macrocephaly |
ORPHA:2143 |
Pontocerebellar Hypoplasia, Type 10 |
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Thin upper lip vermilion, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide nasal bridg... |
OMIM:615803 |
Premature Aging Syndrome, Penttinen Type |
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Delayed eruption of teeth, Aplasia of the nasal bone, Failure to thrive, Prominent nasal bridge, ... |
OMIM:601812 |
Intellectual Developmental Disorder, X-Linked 98 |
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Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
Distal Duplication 5Q |
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Prominent nasal bridge, Craniosynostosis, Microcephaly, Carious teeth, Thin vermilion border, Nar... |
ORPHA:96097 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Anteverted nares, Choanal atresia, Microcephaly, Esophageal atresia, Deep philtrum, Cleft palate,... |
OMIM:610536 |
Nablus Mask-Like Facial Syndrome |
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Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Abnormality... |
OMIM:608156 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ... |
OMIM:614207 |
Diaphanospondylodysostosis |
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Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
Malan Syndrome |
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Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Narrow mouth, Advanced eruption o... |
OMIM:614753 |
Microlissencephaly-Micromelia Syndrome |
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Short nose, Failure to thrive, Secondary microcephaly, Long philtrum |
ORPHA:50810 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Failure to thrive, Depressed nasal bridge, Tarsal synostosis, Cam... |
ORPHA:90652 |
Marshall Syndrome |
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Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Osteoarthritis, Thick low... |
ORPHA:560 |
Schneckenbecken Dysplasia |
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Advanced ossification of carpal bones, Advanced tarsal ossification, Cleft palate, Macrocephaly, ... |
OMIM:269250 |
Cardiofaciocutaneous Syndrome 1 |
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Osteopenia, Hyperextensibility of the finger joints, Relative macrocephaly, Depressed nasal bridg... |
OMIM:115150 |
Prolidase Deficiency |
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Depressed nasal bridge, Concave nasal ridge, High palate, Short nose, Failure to thrive |
OMIM:170100 |
Tetrasomy 5P |
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Anteverted nares, Wide nasal bridge, Macrocephaly, High palate, Long philtrum, Short nose, Failur... |
ORPHA:3309 |
Pde4D Haploinsufficiency Syndrome |
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Joint laxity, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology... |
ORPHA:439822 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downturned corners of mo... |
OMIM:618571 |
Waardenburg Syndrome Type 1 |
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Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... |
ORPHA:894 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Short nose, Flexion contracture, High palate, Wide nasal bridge |
OMIM:218000 |
Adenylosuccinase Deficiency |
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Thin upper lip vermilion, Anteverted nares, Microcephaly, Wide mouth, Long philtrum, Short nose, ... |
OMIM:103050 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
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Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint laxity, Prominent nasolabial ... |
ORPHA:357074 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Thin upper lip vermilion, Joint stiffness, Anosmia, Abnormal nostril morphology, Short nose |
ORPHA:1295 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose, Failure ... |
OMIM:613038 |
Miller-Dieker Lissencephaly Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Anteverted nares, Microce... |
OMIM:247200 |
Distal Deletion 10Q |
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Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Prominent no... |
ORPHA:96148 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Tented philtr... |
ORPHA:363659 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Macrocephaly, Short nose |
ORPHA:2746 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Cleft palate, Short nose, Secondary microcephaly, Accessory oral frenulum |
ORPHA:79113 |
Robinow Syndrome, Autosomal Dominant 3 |
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Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... |
OMIM:616894 |
1P21.3 Microdeletion Syndrome |
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Broad nasal tip, Obesity, Wide mouth, Macrocephaly, Short nose, Joint hypermobility |
ORPHA:293948 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... |
ORPHA:284169 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Anal stenosis, Depressed nasal bridge, Anteverted nares, Large for gestational age, Open mouth, C... |
OMIM:614080 |
Lathosterolosis |
|
Anteverted nares, Microcephaly, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... |
ORPHA:46059 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Median cleft lip, Anteverted nares, Abnormal dental enamel morphology, Prema... |
ORPHA:2710 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Short nose |
ORPHA:2083 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Depressed nasal bridge |
ORPHA:99688 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, Short nose |
ORPHA:2031 |
3C Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasal bridge, Orofacial... |
ORPHA:7 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Prominent nose, Microcephaly, Bulbous nose, Depressed nasal ridge, Down... |
OMIM:156200 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... |
ORPHA:2753 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Limitation of joint mobility, Cl... |
ORPHA:93259 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Protruding tongue, Microcephaly, Obesity, Downturned corners of mouth, Macroglo... |
ORPHA:96147 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Orofacial cleft, Absent nasal... |
ORPHA:261211 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Primary microcephaly, Eruption failure, High palat... |
ORPHA:476126 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Pierre-Robin sequence, Cleft palate, Ante... |
OMIM:217980 |
Pfeiffer Syndrome Type 1 |
|
High palate, Short nose, Depressed nasal bridge, Bicoronal synostosis |
ORPHA:93258 |
Au-Kline Syndrome |
|
Failure to thrive, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nas... |
OMIM:616580 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Anteverted nares, ... |
OMIM:607812 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macrocephaly, Macroglossia, H... |
ORPHA:357001 |
Mietens Syndrome |
|
Wide nose, Joint stiffness, Microcephaly, Wide nasal bridge, Short nose, Elbow ankylosis |
ORPHA:2557 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris... |
OMIM:142945 |
Rhombencephalosynapsis |
|
Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Macroceph... |
ORPHA:59315 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose |
ORPHA:1514 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Small for gestational age, Craniosynostosis, Microcephaly, Bulbous nose, ... |
OMIM:614114 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... |
ORPHA:177907 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Cessation of head growth, Contractures of the large joints, Progressi... |
OMIM:617527 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Macrocephaly, Short nose, Broad philtrum |
ORPHA:1394 |
Micro Syndrome |
|
Anteverted nares, Joint stiffness, Microcephaly, Wide nasal bridge, High palate, Short philtrum, ... |
ORPHA:2510 |
Warburg Micro Syndrome 3 |
|
Microcephaly, Flexion contracture, Narrow palate, Downturned corners of mouth, Secondary microcep... |
OMIM:614222 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:1642 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge, Long philtrum |
ORPHA:93328 |
Trisomy 20P |
|
Anteverted nares, Camptodactyly of finger, Abnormality of the dentition, Reduced bone mineral den... |
ORPHA:261318 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Everted lowe... |
OMIM:608013 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Radioulnar synostosis, Short philtrum, Hy... |
ORPHA:3258 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Craniosyn... |
OMIM:213980 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Microcephaly, Tooth agenesis, Short... |
ORPHA:1786 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Long philtrum, Fused thoracic vertebrae, Depressed nasal bridge... |
ORPHA:97360 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Limited knee flexion, Capitate-hamate fusion, Wide nasal bridge, Cleft ... |
OMIM:311300 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Microcephaly, Contractures o... |
ORPHA:521426 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Relative macrocephaly, Depressed nasal bridge, Anteverted nares, Abnormality of the d... |
OMIM:271510 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Short nose, Thick nasal alae |
ORPHA:163961 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Macrocephaly, High palate, Camptodactyly, Arthrogryposi... |
OMIM:617822 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Malabsorption, Cleft p... |
ORPHA:1225 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... |
ORPHA:261494 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Limitation of joint mobility, Cl... |
ORPHA:93260 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... |
OMIM:618454 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Small for gestational age, Craniosynostos... |
ORPHA:363611 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Abnormality of the dentition, Osteolysis, Osteolytic d... |
ORPHA:90154 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Microcephaly, Tri... |
OMIM:257300 |
Chops Syndrome |
|
Anteverted nares, Microcephaly, High, narrow palate, Obesity, Downturned corners of mouth, Long p... |
OMIM:616368 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin sequence, Knee ... |
OMIM:154780 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Synosto... |
ORPHA:1507 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Cachexia,... |
ORPHA:109 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Abnormal h... |
OMIM:200600 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis |
OMIM:277450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Br... |
OMIM:309590 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micro... |
OMIM:244450 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Low inserti... |
OMIM:619005 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Protruding tongue, Primary microcephaly, Progressive microcephaly, Thick vermilion bor... |
OMIM:608779 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Osteopenia, Depressed nasal bridge, Anteverted nares, Choanal atresia,... |
OMIM:166250 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Thin upper lip vermilion, Craniosynostosis, Cleft lip, Generalized joint laxity, Malrotation of s... |
ORPHA:2953 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Macrocephaly, Microdonti... |
ORPHA:1812 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Macrocephaly, High palat... |
ORPHA:457279 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Depressed nasal bridge, Underdeveloped nasal alae, Delayed epiphyseal ossification, F... |
OMIM:616007 |
Zttk Syndrome |
|
Relative macrocephaly, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Su... |
OMIM:617140 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, High palate,... |
ORPHA:314655 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... |
OMIM:601358 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Short nose, Depressed nasal ridge, Short philtrum |
ORPHA:163966 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Decreased body weight, Anteverted nares, Micr... |
OMIM:303600 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Microcephaly, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,... |
OMIM:613457 |
C Syndrome |
|
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Microcephaly, Failure to thriv... |
ORPHA:1308 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Orofaci... |
ORPHA:77301 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ... |
ORPHA:79345 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Limitation of joint mobility, Narrow mout... |
ORPHA:2719 |
Lathosterolosis |
|
Anteverted nares, Microcephaly, Osteoporosis, Wide nasal bridge, Gingival overgrowth, Thin vermil... |
OMIM:607330 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Wide mouth, Long philtrum... |
OMIM:231050 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... |
ORPHA:828 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose, Microcephaly |
OMIM:618087 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality of the nose, Pri... |
ORPHA:171929 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Microcephaly, Flexion contractu... |
OMIM:601675 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Abnormality of ... |
ORPHA:457395 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Small for gestational age, Gout, Wide mouth, High palate, Short nose, Con... |
OMIM:300661 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Joint stiffness, ... |
OMIM:604173 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion contracture, Limb ... |
OMIM:620369 |
Weiss-Kruszka Syndrome |
|
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow |
OMIM:618619 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Small for gestational age, Supernumerary tooth... |
OMIM:268400 |
Trisomy 18 |
|
Choanal atresia, Camptodactyly of finger, Microcephaly, Cachexia, Esophageal atresia, Non-midline... |
ORPHA:3380 |
Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Anteriorly placed anus, Glossoptosis, Ch... |
OMIM:602535 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, Joint hyperflexib... |
ORPHA:1974 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Short nose, Joint contractu... |
OMIM:228520 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, H... |
OMIM:227330 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Anteverted nares, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion co... |
OMIM:601559 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Microcephaly, Wide nasal bridge, Short columella, Short philtrum, Macrocep... |
OMIM:613603 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Microcephaly, Flexion contracture, Secondary microcephaly, Short nose |
OMIM:614225 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Camptodactyly o... |
ORPHA:3107 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Submucous cleft hard pala... |
ORPHA:1340 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Microcephaly, Flexion contracture, Downturned corners ... |
OMIM:619321 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Microcephaly, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Protruding tongue, Diaste... |
OMIM:301040 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Microcephaly, Wide nasal bridge, High palate, Long philtrum, Hyperexten... |
ORPHA:319182 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Pyloric stenosis, Flexion contracture, Ma... |
OMIM:147791 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Depressed n... |
OMIM:268310 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Tracheomalacia... |
ORPHA:536467 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Craniosynostosis, Long nose, Mi... |
ORPHA:508533 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Depressed nasal bridge, Anteve... |
ORPHA:1465 |
Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Microcephaly, Wide nasal bridge, Submucous cleft soft palate... |
ORPHA:2282 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Protruding... |
ORPHA:50945 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Macrocephaly, Short nose |
OMIM:222448 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Antev... |
OMIM:619426 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Microcephaly, Rectal ... |
OMIM:617157 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Microdontia, Advanced eruption of teeth, J... |
OMIM:615873 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Macrocephaly, Short nose, Failure to thrive |
ORPHA:3339 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Short nose, Camptod... |
OMIM:601353 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Microcep... |
ORPHA:261112 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... |
ORPHA:280633 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of t... |
OMIM:301044 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Sagittal crani... |
ORPHA:536471 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Depressed nasal bridge, Underdeveloped nasal alae, Wid... |
ORPHA:79328 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Anteverted nares, Block vertebrae, Tarsal synostosis, Broad nasal tip, Capitate... |
OMIM:272460 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal bridge, Cleft palate, Thin ver... |
ORPHA:1449 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Limitation of joint mobility,... |
ORPHA:1272 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l... |
OMIM:269150 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Long philtrum, Short nos... |
OMIM:614185 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Macrocephaly, Short nose, Long philtrum |
OMIM:258480 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Wide nasal bridge... |
OMIM:601088 |
Sponastrime Dysplasia |
|
Joint laxity, Relative macrocephaly, Wide nose, Aplasia of the nasal bone, Anteverted nares, Depr... |
ORPHA:93357 |
Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Microcephaly, Triangular mouth, Joint contracture, Failure to thrive,... |
OMIM:618460 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip vermilion, Eruptio... |
OMIM:230740 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
Arterial Tortuosity Syndrome |
|
Craniosynostosis, Hiatus hernia, Pyloric stenosis, Joint hyperflexibility, Esophagitis, Macroceph... |
ORPHA:3342 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum |
OMIM:252160 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... |
ORPHA:2729 |
Deeah Syndrome |
|
Malabsorption, Narrow palate, High palate, Short philtrum, Narrow mouth, Prominent nasal tip, Sho... |
OMIM:619004 |
Pallister-Hall Syndrome |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cleft upper lip, Microglo... |
OMIM:146510 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Pr... |
OMIM:612289 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Anteriorly placed anus, Choanal stenosis, Elbow ankylos... |
ORPHA:95699 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum |
OMIM:252150 |
Trisomy 8P |
|
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Microcephaly, Recurrent up... |
ORPHA:264450 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short philtrum, High palate, Decreased body weight, Joint laxity, Anteverted... |
OMIM:619475 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Short philtrum, High palate, Joint laxity, Depressed nasal bridge, Anteverte... |
OMIM:613406 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Microcephaly, Esophageal atresia, Tracheoesophageal fistula, Downturned c... |
OMIM:301030 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Microcephaly, Cleft palate, Anteriorly placed anus, High palate, Short nos... |
ORPHA:3338 |
Degcags Syndrome |
|
Osteopenia, Prominent nose, High palate, Anteverted nares, Hiatus hernia, Thick vermilion border,... |
OMIM:619488 |
Omodysplasia 1 |
|
Depressed nasal bridge, Limited knee flexion, Wide nasal bridge, Limited knee flexion/extension, ... |
OMIM:258315 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, High palate, Left unilambd... |
OMIM:609942 |
Jacobsen Syndrome |
|
Anteverted nares, Intestinal malrotation, Pyloric stenosis, Wide nasal bridge, Macrocephaly, Abno... |
ORPHA:2308 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Failure to thrive in infancy, Broad nasal tip, ... |
ORPHA:798 |
Ogden Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Depressed nasal bridge, Underdeveloped nas... |
OMIM:300855 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Obesity, Downturned corners of mouth, G... |
ORPHA:444077 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Intestinal ... |
ORPHA:199 |
Aspartylglucosaminuria |
|
Abnormality of the dentition, Carious teeth, Malabsorption, Joint stiffness, Wide nasal bridge, G... |
ORPHA:93 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Humeroradial synostosis, Tracheoesophageal fistula, Cleft palate, Short nose... |
ORPHA:2879 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Gene... |
OMIM:601776 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Short nose, Craniosynostosis, Hypoplasia of the small intestine |
OMIM:200995 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Anteverted nares, Camptodactyly of finger, Cleft upper lip, High, narrow palate... |
ORPHA:373 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Hyperextensibility at elbow, Depressed nasal bridge, Joint hypermobility, ... |
ORPHA:500150 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Prominent nasal tip, Sh... |
ORPHA:522077 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdevel... |
ORPHA:268261 |
Atelosteogenesis, Type I |
|
Fused cervical vertebrae, Short nose, Depressed nasal bridge, Cleft palate |
OMIM:108720 |
Cadds |
|
Short nose |
ORPHA:369942 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Microcephaly, Wide nasal bridge, Knee flexion contracture, Thin vermilion borde... |
OMIM:609945 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Joint stiffness, Macrocephaly, Seconda... |
OMIM:618820 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Underdeveloped nasal alae, Flexion contracture, Cleft palate, Ora... |
OMIM:263650 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... |
ORPHA:1519 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Depressed nasal ridge, Elbow flexion contracture, Knee flexion contractur... |
OMIM:271665 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Macrocephaly |
OMIM:614863 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Thin upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal bridge, Macroce... |
OMIM:620330 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Prominent nose, Deep philtrum, Flexion ... |
OMIM:619503 |
Williams Syndrome |
|
Osteopenia, Rectal prolapse, Microdontia, Joint laxity, Increased bone mineral density, Abnormal ... |
ORPHA:904 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Limited elbow movement, Underdeveloped nasal alae, Humeroradial synosto... |
OMIM:134780 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Osteopenia, Joint laxity, Depressed nasal bridge, Anteverted nares, Failure ... |
OMIM:194050 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Macroglossia, Thick vermilion border, Short nose |
ORPHA:505248 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Microcephaly, Wide nas... |
OMIM:619522 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short nose, Limited elbow extension |
OMIM:602875 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares, Intestinal malrotatio... |
OMIM:312870 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerat... |
ORPHA:709 |
Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Large for gestational ag... |
ORPHA:672 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2nd-5th... |
OMIM:601803 |
Lipodystrophy, Familial Partial, Type 7 |
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Small for gestational age, Narrow nasal ridge, Narrow mouth, Short nose, Failure to thrive |
OMIM:606721 |
Penile Agenesis |
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Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia |
ORPHA:49 |