Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Palant Cleft Palate Syndrome |
|
Bulbous nose, Exaggerated cupid's bow, Cleft palate, Upslanted palpebral fissure |
OMIM:260150 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Epicanthus, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
17Q21.31 Microduplication Syndrome |
|
High palate, Thick eyebrow, Abnormality of the dentition, Short philtrum, Epicanthus, Short nose,... |
ORPHA:217340 |
Burn-Mckeown Syndrome |
|
Short palpebral fissure, Bilateral choanal atresia, Short nose, Abnormal palate morphology, Promi... |
ORPHA:1200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... |
ORPHA:1906 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Ankyloblepharon, Cleft palate |
OMIM:106250 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Highly arched eye... |
ORPHA:261120 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Long philtrum |
OMIM:218010 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Rhiny |
|
Thin vermilion border, Short nose, Anteverted nares |
OMIM:180360 |
Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
Mental Retardation, X-Linked 91 |
|
High palate, Epicanthus, Short nose, Macrodontia |
OMIM:300577 |
Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Epicanthus, Anteverted nares, Short nose |
ORPHA:1450 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares |
OMIM:614069 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Cleft palate, Everted lower lip vermilion, Blepharophimosis, Oral synechia |
ORPHA:2016 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Potocki-Shaffer Syndrome |
|
Short philtrum, Downturned corners of mouth, Downslanted palpebral fissures, Short nose, Sparse l... |
OMIM:601224 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Broad nasal tip, Depressed... |
OMIM:619736 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Cleft palate |
OMIM:600331 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Highly arched eyebro... |
ORPHA:438178 |
Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Low hanging columella, Upslanted palpebral fissure, Depressed nasal brid... |
OMIM:617752 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Downslanted... |
ORPHA:1695 |
Anencephaly 2 |
|
Median cleft palate, Short palpebral fissure, Bifid nose, Median cleft lip, Cleft of alveolar rid... |
OMIM:619452 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum |
ORPHA:46 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Aplasia/Hypoplasia involving the nose, Lacrimal duct atresia, Depressed nasal ridge... |
ORPHA:1529 |
Orofaciodigital Syndrome Xi |
|
Downslanted palpebral fissures, Bulbous nose, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... |
ORPHA:884 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Gingival fibromatosis, Short nose, Median cleft lip a... |
ORPHA:1832 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Upslanted palpebral fissure, Broad nasal tip, Long philtrum, Epicanthus, Short nose,... |
OMIM:613544 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Upslanted palpebral fissure, Depressed nasal bridge, Short philtrum, Downturned corners of mouth,... |
OMIM:613443 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Chung-Jansen Syndrome |
|
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Short philtrum, L... |
OMIM:617991 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Absent inner ey... |
ORPHA:1791 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short philtrum, Downslanted palpebral fissures, Epicanthus, Short nose, Narrow palpebral fissure,... |
OMIM:613603 |
17P13.3 Microduplication Syndrome |
|
High palate, Narrow mouth, Downslanted palpebral fissures, Wide nose, Short nose |
ORPHA:217385 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Anteverted nares, Sm... |
OMIM:614744 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Thick eyebrow, Everted lower lip vermilion, Short philtrum, Short nose, Synophrys, Th... |
ORPHA:2429 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Bulbous nose, Downslanted palpebral fissures, Epicanthus, Short nose, Narrow palpebr... |
OMIM:613604 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... |
ORPHA:1248 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Narrow mouth, Bulbous nose, Long philtrum, Short nose, Long eyelashe... |
ORPHA:969 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Highly arched eyebrow, Thin upper lip vermilion, Intrauterine growth retardation, U... |
OMIM:611867 |
Joubert Syndrome 26 |
|
Cleft palate, Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares, Ptosis |
OMIM:616784 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Treacher Collins Syndrome 2 |
|
Cleft palate, Coloboma, Downslanted palpebral fissures, Choanal atresia, Choanal stenosis |
OMIM:613717 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:616430 |
Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Downslanted palpebral fissures, Telecanthus, I... |
ORPHA:1993 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Cleft lip, Synophrys |
OMIM:300263 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Bulbous nose, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures,... |
OMIM:614105 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Recurrent upper respiratory ... |
OMIM:300209 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Short nose, Distichiasis, Long philtrum |
ORPHA:2598 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Protruding tongue, Synophrys |
DECIPHER:52 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Downslanted palpebral fissures, Iris coloboma, Median cleft lip, Nasal ... |
OMIM:155145 |
Ohdo Syndrome |
|
Narrow mouth, Sparse eyebrow, Thin vermilion border, Depressed nasal bridge, Long philtrum, Wide ... |
OMIM:249620 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes |
OMIM:200130 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares |
OMIM:615942 |
Zechi-Ceide Syndrome |
|
Cleft upper lip, Short palpebral fissure, Cleft palate, Oligodontia, Wide nose, Narrow palpebral ... |
OMIM:612916 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... |
OMIM:226440 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Tele... |
OMIM:618828 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate |
OMIM:119540 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Short nose, Death in infancy, Abnormal palate morphology, Intrauterine growth retar... |
ORPHA:1495 |
Pierpont Syndrome |
|
Unilateral narrow palpebral fissure, Prominent median palatal raphe, Long upper lip, Everted lowe... |
OMIM:602342 |
Miller-Dieker Syndrome |
|
Anteverted nares, Epicanthus, Short nose, Abnormality of upper lip |
ORPHA:531 |
Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Thick upper lip vermilion, Upslanted palpebral fissure, Short nose, Open mouth, Ante... |
OMIM:300558 |
Perlman Syndrome |
|
High, narrow palate, Wide nasal bridge, Abnormality of upper lip, Epicanthus, Short nose, Antever... |
ORPHA:2849 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Ptosis, Cleft palate, Coloboma |
OMIM:120433 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Wide nose, Sparse lateral e... |
ORPHA:1252 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Downslanted palpebral fissures, Broad nasal tip, Short nose, Open mouth |
OMIM:613670 |
Tetrasomy 18P |
|
Narrow mouth, Thin vermilion border, Long philtrum, Downslanted palpebral fissures, Epicanthus, S... |
ORPHA:3307 |
Fetal Alcohol Syndrome |
|
Cleft palate, Microdontia, Telecanthus, Epicanthus, Short nose, Non-midline cleft lip, Anteverted... |
ORPHA:1915 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Short nose, Tented upper lip vermilion, Synophrys, Open mouth, Denta... |
OMIM:300143 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Triangular mouth, Abnormality of the dentition, Broad nasal tip, Long philtr... |
OMIM:618529 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short palpebral fissure, Downslanted palpebral fissures, Short nose, Blepharophimos... |
OMIM:611936 |
Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep philtrum, Short nose, Open mout... |
OMIM:137550 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... |
ORPHA:1327 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Thick eyebrow, Everted lower lip vermilion, Depressed nasal bridge, Broad columella, Downturned c... |
OMIM:617865 |
Pontocerebellar Hypoplasia, Type 10 |
|
High palate, Long palpebral fissure, Short nose, Long eyelashes, Thin upper lip vermilion, Highly... |
OMIM:615803 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Upslanted palpebral fissure |
OMIM:300850 |
Amyotrophy, Hereditary Neuralgic |
|
Narrow mouth, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Epicanthus, Long... |
OMIM:162100 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ... |
ORPHA:1794 |
Helsmoortel-Van Der Aa Syndrome |
|
Wide mouth, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Advanced eruption of tee... |
OMIM:615873 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Epicanthus, Cleft lip,... |
OMIM:618761 |
Coffin-Siris Syndrome 9 |
|
High palate, Short palpebral fissure, Low hanging columella, Everted lower lip vermilion, Long no... |
OMIM:615866 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Accessory oral frenulum, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Short ... |
OMIM:115645 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
Fetal Trimethadione Syndrome |
|
High palate, Depressed nasal bridge, Epicanthus, Short nose, Synophrys, Intrauterine growth retar... |
ORPHA:1913 |
Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Convex nasal ridge, Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Peho-Like Syndrome |
|
Epicanthus, Short nose, Open mouth |
OMIM:617507 |
Bartsocas-Papas Syndrome |
|
Narrow mouth, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Sparse or absent ... |
ORPHA:1234 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Epicanthus, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:618218 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Narrow mouth, Short nose, Intrauterine growth retardation |
ORPHA:2370 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Depressed nasal bridge, Short nose, Death in infancy, Median cleft lip, Microglossia |
OMIM:241800 |
Chromosome 15Q14 Deletion Syndrome |
|
Cleft palate, Everted lower lip vermilion, Short philtrum, Recurrent viral upper respiratory trac... |
OMIM:616898 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Cleft palate, Broad nasal tip, Short nose, Tented upper lip vermilion, Wide nasal bridge |
OMIM:614207 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short nose, Wide nasal bridge, Cleft palate |
OMIM:614078 |
Bencze Syndrome |
|
Telecanthus, Submucous cleft hard palate, Upslanted palpebral fissure, Open bite |
ORPHA:1241 |
Gms Syndrome |
|
Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Epicanthus, Short nose |
OMIM:138770 |
5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Upslanted palpebral fissure, Short philtrum, Short nose, Open mouth, Anteverted nares |
ORPHA:228384 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Rapadilino Syndrome |
|
High palate, Slender nose, High, narrow palate, Cleft palate, Narrow palpebral fissure, Blepharop... |
OMIM:266280 |
Non-Distal Trisomy 13Q |
|
High palate, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abnormality of th... |
ORPHA:1702 |
Spinocerebellar Ataxia With Dysmorphism |
|
Downturned corners of mouth, Short nose, Anteverted nares, Thick lower lip vermilion, Ptosis |
OMIM:271270 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Cleft palate, Sparse eyelashes, Upper eyelid coloboma, Underdeveloped nasal alae,... |
OMIM:613456 |
Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Thick eyebrow, Cleft palate, Telecanthus, Short nose, White eyebrow, Tented uppe... |
ORPHA:894 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Tented upper lip vermilion, Thin uppe... |
OMIM:615716 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Carious teeth, Deep philtrum, Short nos... |
ORPHA:2701 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid uvul... |
OMIM:229400 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate, Choanal stenosis |
OMIM:618939 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Broad nasal tip, Telecanthus, Bifid nasal tip, Median cleft lip |
OMIM:300484 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Hartsfield Syndrome |
|
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Telecanthus, Non-midline cl... |
ORPHA:2117 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Bulbous nose, Agenesis of central incisor, Long upper lip, Cleft... |
ORPHA:364577 |
Cebalid Syndrome |
|
High palate, Thick eyebrow, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral ... |
OMIM:618774 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Intestinal malrotation, Long philtrum, Wide nasal bridge, Downslanted palpebral fissures, Short n... |
ORPHA:401935 |
Orofacial Cleft 15 |
|
Bulbous nose, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Agenesis of lateral ... |
OMIM:616788 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Short palpebral fissure, Cleft palate, Thin vermilion border, Shor... |
OMIM:608572 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate, Coloboma |
OMIM:248390 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Bulbous nose, Macroglossia, Everted lower lip vermilion, Depressed nasal bridge, Palpebral edema,... |
ORPHA:261144 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Short nose, Cleft palate, Depressed nasal ridge |
OMIM:613885 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Microdont... |
OMIM:225000 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Narrow mouth, Short palpebral fissure, Depressed nasal bridge, Long philtrum, Epican... |
OMIM:613457 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Bifid ... |
ORPHA:1790 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thick eyebrow, Thin vermilion border, Depressed nasal bridge, H... |
OMIM:617412 |
Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Long palpebral fissure, Long philtrum, Oral cleft, Epicanthus, Short... |
OMIM:243310 |
Thomas Syndrome |
|
Cleft upper lip, Downslanted palpebral fissures, Cleft palate |
ORPHA:3316 |
Fetal Hydantoin Syndrome |
|
Wide mouth, Depressed nasal ridge, Cleft palate, Everted lower lip vermilion, Epicanthus, Short n... |
ORPHA:1912 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Cleft palate, Downslanted palpebral fissures, Tented upper lip vermilion, Wide nasal... |
OMIM:618388 |
Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Cleft palate, Upper eyelid coloboma, Limbal dermoid, Bifid nasal tip, Cleft lip, Wi... |
ORPHA:398156 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Short palpebral fissure, Cleft palate, Oral cleft, Widely-spaced maxillary centr... |
OMIM:601349 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Ankyloblepharon, Cleft palate, Non-midline cleft lip |
ORPHA:1072 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Thick eyebrow, Cleft palate, Upslanted palpebral fissure, Thin verm... |
OMIM:614701 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Bulbous nose, Cleft palate, Death in infancy, Wide nasal bridge |
ORPHA:93946 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Long philtrum, Downslanted palpebral fissures, Telecanthus, Short nose... |
OMIM:615539 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Flared nostrils, Short palpebral fissure, Cleft palate, Depressed n... |
OMIM:206920 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Short nose, Intrauterine growth retardation, Epicanthus |
OMIM:616910 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short nose, Upslanted palpebral fissure, Ptosis |
OMIM:613458 |
Acrocephalopolydactyly |
|
Epicanthus, Short nose, Depressed nasal ridge |
ORPHA:221054 |
Trisomy 12P |
|
Anal atresia, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Downturned corners of mou... |
ORPHA:1699 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Abnormal nasal morphology, Bilateral cleft lip and palate, Iris coloboma, Choanal a... |
ORPHA:1104 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Short nose, Long eyelashes, Anteverted nares, Broad philtrum, Wide nasal bridge |
OMIM:618577 |
Distal Trisomy 18Q |
|
High palate, Carious teeth, Short nose, Iris coloboma, Choanal atresia, Anteverted nares, Abnorma... |
ORPHA:1716 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Short palpebral fissure, Thin vermilion border, Depressed nasal bridge, Short philt... |
OMIM:618622 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Cleft palate, Retinal coloboma, Long philtrum, Downturned corners of mouth, Deep ph... |
OMIM:618571 |
Glutamine Deficiency, Congenital |
|
Thin vermilion border, Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Wide... |
OMIM:610015 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
High palate, Dental crowding, Bulbous nose, Thick eyebrow, Upslanted palpebral fissure, Depressed... |
OMIM:617061 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate, Coloboma |
OMIM:600251 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Short nose, Thin upper lip vermilion, Death in infancy |
OMIM:615042 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Hypodontia, Sparse eyebrow, Short palpebral fissure, Thin vermilion border, Sparse eyelashes, Sho... |
OMIM:613026 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Upslanted palpebral fissure, Long philtrum, Downslanted palpebral fissures, Short n... |
OMIM:616420 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Short nose, Long philtrum |
ORPHA:1389 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Depression, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Abnormality... |
OMIM:608156 |
Microform Holoprosencephaly |
|
Duodenal atresia, Cleft palate, Short philtrum, Oral cleft, Narrow nasal bridge, Short nose, Iris... |
ORPHA:280200 |
Edinburgh Malformation Syndrome |
|
Narrow mouth, Thin vermilion border, Downturned corners of mouth, Short nose, Choanal atresia, Sy... |
ORPHA:1895 |
Even-Plus Syndrome |
|
High palate, Anal atresia, Hypodontia, Depressed nasal ridge, Bifid nasal tip, Short nose, Synoph... |
OMIM:616854 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Long eyelashes, Thick eyebrow, Narrow nasal bridge |
ORPHA:1514 |
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Choanal atresia, Cleft palate |
OMIM:241850 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Everted lower lip vermilion, Long philtrum, Anterior open-bite malocclusion, Downsla... |
OMIM:617877 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Bulbous nose, Cleft palate, Downslanted palpebral fissures, Pierre-Robin sequence |
OMIM:619981 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Cleft palate, Abnormality of ... |
ORPHA:1135 |
Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... |
ORPHA:1358 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners of mouth, Downs... |
ORPHA:391372 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Thick eyebrow, Low hanging columella, Upslanted palpebral fissure, Long philtrum, Na... |
OMIM:619383 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Thick vermilion border, Short nose, Long philtrum |
ORPHA:833 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Bulbous nose, Macroglossia, Upslanted palpebral fissure, Depressed nasal... |
ORPHA:369891 |
Bainbridge-Ropers Syndrome |
|
High palate, Wide mouth, Broad nasal tip, Depressed nasal bridge, Downslanted palpebral fissures,... |
OMIM:615485 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... |
OMIM:618779 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Schilbach-Rott Syndrome |
|
Narrow mouth, Upslanted palpebral fissure, Long nose, Bifid uvula, Epicanthus, Prominent nose, Bl... |
OMIM:164220 |
Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Short nose, Wide nasal bridge |
OMIM:612563 |
Codas Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Epicanthus, Short nose, Anteverted nares, Abno... |
ORPHA:1458 |
Al-Raqad Syndrome |
|
Narrow mouth, Thin upper lip vermilion, Short nose |
OMIM:616459 |
Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
Developmental And Epileptic Encephalopathy 75 |
|
Upslanted palpebral fissure, Short philtrum, Short nose, Open mouth, Anteverted nares, Wide nasal... |
OMIM:618437 |
Distal Monosomy 9P |
|
High, narrow palate, Cleft palate, Upslanted palpebral fissure, Abnormality of the dentition, Epi... |
ORPHA:1642 |
46,Xy Sex Reversal 4 |
|
High palate, Increased blood urea nitrogen, Cleft palate, Micrognathia, Long philtrum, Elevated c... |
OMIM:154230 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Upslanted p... |
OMIM:616331 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Cleft palate, Upslanted palpebral fissure, Downslanted palpebral fissures, Deep philtrum, Short n... |
OMIM:610536 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Highly arched eyebrow, Long philtrum |
OMIM:300887 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
16P12.1P12.3 Triplication Syndrome |
|
Wide mouth, Bulbous nose, Thick eyebrow, High, narrow palate, Short palpebral fissure, Thin vermi... |
ORPHA:485405 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Cleft palate, Depressed nasal bridge, Long palpebral fissure, Long philtrum, Downtur... |
ORPHA:163649 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth |
OMIM:226650 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Tented upper lip vermilion, Anteverted nares, Thin upper lip vermilion, Thick lower l... |
OMIM:619854 |
16P11.2P12.2 Microdeletion Syndrome |
|
Bulbous nose, Long nose, Oral cleft, Downslanted palpebral fissures, Epicanthus, Short nose, Abse... |
ORPHA:261211 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Depressed nasal bridge, Neonatal death, Bilateral choanal atresia, Sho... |
OMIM:619859 |
Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Stickler Syndrome Type 1 |
|
Short nose, Long philtrum, Cleft palate |
ORPHA:90653 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Short palpebral fissure, Depressed nasal bridge, Downslanted palpebral fissures, Sh... |
ORPHA:284169 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Teebi Hypertelorism Syndrome 1 |
|
Upslanted palpebral fissure, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissure... |
OMIM:145420 |
Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Short nose, Convex nasal ridge, Cleft palate |
ORPHA:2145 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Depressed nasal bridge, Downslanted palpebral fissures, Deep philtrum, Short nose, T... |
ORPHA:314655 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Cleft palate, Upslanted palpebral fissure, Telecanthus, Epicanthus, Shor... |
ORPHA:79113 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Narrow mouth, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mouth, Downslante... |
ORPHA:391408 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Short nose, Blepharophimosis, Aganglionic megacolon |
ORPHA:99688 |
20Q11.2 Microduplication Syndrome |
|
Severe intrauterine growth retardation, Gingival overgrowth, Abnormal nasal bridge morphology, De... |
ORPHA:363659 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Short philtrum, Long... |
OMIM:239300 |
Verheij Syndrome |
|
Long philtrum, Coloboma, Short nose, Thin upper lip vermilion, Wide nasal bridge |
OMIM:615583 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate |
OMIM:612370 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Short... |
ORPHA:171839 |
Johanson-Blizzard Syndrome |
|
Anal atresia, Malabsorption, Abnormality of the dentition, Oligodontia, Abnormality of the nares,... |
ORPHA:2315 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Narrow mouth, Microdontia, Short nose, Open mouth, Anteverted nares, Delayed eruption of permanen... |
OMIM:619356 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Cleft palate, Upslanted palpebral fissure, Broad nasal tip, Long palpebral fissure,... |
OMIM:614749 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Upslanted palpebral fissure, Intestinal malrotation, Depressed nasal bridge, Abnorm... |
ORPHA:404440 |
Diprosopus |
|
Abnormality of the nose, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Epicanthus, Short nose, Anteverted nares, Thick vermilion border, Pt... |
ORPHA:1185 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Narrow palate, Cleft palate, Sparse eyebrow, Sparse ey... |
OMIM:605627 |
Congenital Disorder Of Glycosylation, Type 2V |
|
High palate, Bulbous nose, Cleft palate, Low hanging columella, Short philtrum, Downslanted palpe... |
OMIM:619493 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide mouth, Bulbous nose, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Shor... |
OMIM:618454 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Slender nose, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:615419 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormality of the nares, Telecanthus, Short nose, Synophrys, Thin upper lip vermilion, Anosmia |
ORPHA:1295 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hypoplasia of the primary ... |
ORPHA:90321 |
Down Syndrome |
|
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Depressed nasal ridge, Upslanted palpebr... |
ORPHA:870 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short philtrum, Short nose, Tented upper lip vermilion |
ORPHA:85277 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares, Intrauterine... |
ORPHA:1914 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... |
OMIM:129400 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Short nose, Death i... |
ORPHA:166272 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Median cleft palate, Depressed nasal bridge, Popliteal pterygium, Downslanted palpebral fissures,... |
OMIM:119800 |
Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Convex nasal ridge, High, narrow palate, Cleft palate, Pyloric s... |
ORPHA:2409 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Downslanted palpebral fissures, Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft... |
OMIM:192445 |
Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Retinal coloboma, Abnormality of the dentitio... |
OMIM:258865 |
Holoprosencephaly 11 |
|
Cleft lip, Thick eyebrow, Synophrys, Cleft palate |
OMIM:614226 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Upslanted palpebral fissure, Long palpebral fissure, Long philtrum, Prominen... |
OMIM:619179 |
Weiss-Kruszka Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Short nose, Exaggerated cupid's bow, Anteverted nares... |
OMIM:618619 |
Ruvalcaba Syndrome |
|
Narrow mouth, Convex nasal ridge, Thin vermilion border, Downslanted palpebral fissures, Short no... |
ORPHA:3121 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Wide mouth, Thick eyebrow, Cleft palate, Downslanted palpebral fissures, Epicant... |
ORPHA:1394 |
Femoral-Facial Syndrome |
|
Cleft palate, Upslanted palpebral fissure, Long philtrum, Oral cleft, Short nose, Thin upper lip ... |
ORPHA:1988 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Thick eyebrow, Upslanted palpebral fissure, Depressed nasal bridge, Deep philtrum, S... |
OMIM:619833 |
Orofaciodigital Syndrome X |
|
Telecanthus, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Short nose, Wide nasal bridge, Ptosis |
OMIM:218000 |
16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Wide mouth, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures... |
ORPHA:261236 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Acrofrontofacionasal Dysostosis |
|
High palate, Cleft palate, Everted lower lip vermilion, Dimple on nasal tip, Broad nasal tip, Apl... |
ORPHA:1784 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Ptosis, Glossoptosis, Short nose, Anteverted nares, Blepharophimosis, Underdeveloped nasal alae, ... |
ORPHA:2031 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Depressed nasal ridge, Short philtrum, Short nose, Death in infancy, Intrauterine gro... |
ORPHA:163966 |
Smith-Kingsmore Syndrome |
|
Wide mouth, Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Short nose, Op... |
OMIM:616638 |
White-Kernohan Syndrome |
|
Wide mouth, Thick eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Depressed nasal ... |
OMIM:619426 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Depressed nasal ridge, Telecanthus, Choanal a... |
OMIM:607597 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypogeusia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Emotion... |
OMIM:223900 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Macroglossia, Depressed nasal bridge, Epicanthus, Short nose, Protruding tongue, A... |
OMIM:242860 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Wide mouth, Upslanted palpebral fissure, Depressed nasal bridge, Abnormality of the ... |
ORPHA:363528 |
Pfeiffer Syndrome |
|
High palate, Depressed nasal bridge, Shallow orbits, Downslanted palpebral fissures, Short nose, ... |
OMIM:101600 |
Orthostatic Hypotension 1 |
|
High palate, Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Epicanthus, Wide nose, Short nose, Depressed nasal ridge |
ORPHA:2831 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short nose, Cleft palate, Ptosis |
OMIM:614261 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Depressed nasal bridge,... |
OMIM:259775 |
Toluene Embryopathy |
|
Short palpebral fissure, Thin vermilion border, Epicanthus, Short nose, Smooth philtrum |
ORPHA:1920 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
High palate, Dental crowding, Short palpebral fissure, Depressed nasal bridge, Death in childhood... |
OMIM:619005 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Tented... |
OMIM:618430 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Downslanted palpebral fi... |
OMIM:200990 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Thin vermilion border, Short philtrum, Downturned corners of mouth, Short nose, Synophrys |
ORPHA:2983 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short palpebral fissure, Cleft palate, Depressed nasal bridge, Downturned corners of mouth, Telec... |
OMIM:217980 |
Glass Syndrome |
|
High palate, Narrow mouth, Bulbous nose, Cleft palate, Long nose, Oligodontia, Narrow nose, Downs... |
OMIM:612313 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Antley-Bixler Syndrome |
|
Narrow mouth, Cleft palate, Long philtrum, Downslanted palpebral fissures, Short nose, Choanal at... |
ORPHA:83 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
3C Syndrome |
|
Ectopic anus, Anal atresia, High, narrow palate, Cleft palate, Intestinal malrotation, Depressed ... |
ORPHA:7 |
Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Cleft palate, Sparse eyebrow, Sparse eyelashes, Abnormali... |
ORPHA:560 |
Acrodysostosis |
|
Depressed nasal ridge, Open bite, Depressed nasal bridge, Delayed eruption of teeth, Epicanthus, ... |
ORPHA:950 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Depressed nasal bridge, Short philtrum, Long palpebral fissure, Long philtru... |
ORPHA:439822 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Short nose, Long philtrum |
OMIM:605309 |
Achondrogenesis |
|
Anteverted nares, Short nose, Long philtrum |
ORPHA:932 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Blepharitis, Lacrimal duct atresia, Hypodontia, Cleft palate, Ankyloblepharon, S... |
OMIM:106260 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Upslanted palpebral fis... |
OMIM:616894 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Abnormal nasal morphology, Downslant... |
ORPHA:245 |
Peho Syndrome |
|
Epicanthus, Short nose, Tented upper lip vermilion, Open mouth |
OMIM:260565 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Narrow mouth, Pursed lips, Long philtrum, Whistling appearance, Telecanthus, Short n... |
OMIM:193700 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Narrow mouth, Long philtrum, Carious teeth, Downslanted palpebral fissures, Short no... |
OMIM:219200 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short palpebral fissure, Highly arched eyebrow, Short nose, Prominent nasal bridge, Intrauterine ... |
ORPHA:2083 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Anteverted nares, Depressed nasal bridge, Short nose, Death in childhood |
OMIM:618961 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Dental malocclusion, Narrow mouth, Convex nasal ridge, Cleft palate, Abnormality of ... |
ORPHA:251028 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Thin vermilion border, Downslanted palpebral fissures, Short nose, Anteverted nares,... |
OMIM:601853 |
Aase-Smith Syndrome I |
|
Ptosis, Death in infancy, Cleft palate, Open mouth |
OMIM:147800 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Iris ... |
ORPHA:2143 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, ... |
ORPHA:819 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Wide mouth, Long nose, Depressed nasal bridge, Downturned corners of mouth, Telecant... |
OMIM:618590 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia |
OMIM:302950 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Highly arched eyebrow, Submucous cleft soft palate, Short nose, Anteverted nar... |
ORPHA:2282 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Long philtrum, Short nose, Pterygium, Anteverted nares |
ORPHA:93329 |
Birk-Barel Syndrome |
|
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Long eyelashes, Tented upp... |
OMIM:612292 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the eyebrow, Depressed nasal bridge, Microdontia, Downslanted... |
ORPHA:1812 |
Distal Trisomy 5Q |
|
Narrow mouth, Thin vermilion border, Long philtrum, Carious teeth, Downslanted palpebral fissures... |
ORPHA:96097 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Depressed nasal bridge, Epicanthus, Short nose, Tented upper lip vermilion, Thick vermilion borde... |
OMIM:616723 |
19P13.13 Microdeletion Syndrome |
|
High palate, Narrow mouth, Macroglossia, Depressed nasal bridge, Downslanted palpebral fissures, ... |
ORPHA:357001 |
Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissures, Shor... |
ORPHA:1786 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Downslanted ... |
OMIM:305400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Telecanthus, Short nose, Unilateral cleft lip, Anteverted nares, Intrauterine growt... |
OMIM:616897 |
Menke-Hennekam Syndrome 1 |
|
High palate, Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Short philtrum, Downsla... |
OMIM:618332 |
Achondrogenesis Type 1B |
|
Anteverted nares, Short nose, Long philtrum |
ORPHA:93298 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose |
OMIM:122880 |
Dend Syndrome |
|
Long philtrum, Downturned corners of mouth, Bilateral ptosis, Short nose, Anteverted nares |
ORPHA:79134 |
Poikiloderma With Neutropenia |
|
Blepharitis, Sparse eyebrow, Depressed nasal bridge, Long philtrum, Carious teeth, Recurrent sinu... |
OMIM:604173 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Abnormality of the dentition, Short philtrum, Depressed nasal bridge, Downslanted pal... |
ORPHA:1507 |
Trisomy 20P |
|
Ectopic anus, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abnormality of t... |
ORPHA:261318 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Wide mouth, Everted lower lip vermilion, Open bite, Upslanted palpebral fissure, Lon... |
ORPHA:1974 |
8P23.1 Microdeletion Syndrome |
|
High palate, Intrauterine growth retardation, Upslanted palpebral fissure, Thin vermilion border,... |
ORPHA:251071 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth, Downs... |
OMIM:614753 |
Usher Syndrome Type 2 |
|
Depression, Anxiety, Microdontia, Carious teeth, Abnormality of dental color, Abnormal dental ena... |
ORPHA:231178 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Achondrogenesis Type 1A |
|
Anteverted nares, Short nose, Long philtrum |
ORPHA:93299 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Intestinal malrotation, Long nose, Narrow nose, Carious teeth, Short n... |
OMIM:617602 |
Cenani-Lenz Syndrome |
|
Ectropion, Convex nasal ridge, Hypodontia, High, narrow palate, Short philtrum, Downslanted palpe... |
ORPHA:3258 |
Marcus-Gunn Syndrome |
|
Cleft palate, Abnormality of the sense of smell, Coloboma, Cleft lip, Choanal atresia, Unilateral... |
ORPHA:91412 |
Peho Syndrome |
|
Gingival overgrowth, Palpebral edema, Abnormality of upper lip, Epicanthus, Short nose, Anteverte... |
ORPHA:2836 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Downturned corn... |
OMIM:615398 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Meckel diverticulum, Chorioretinal coloboma |
ORPHA:163961 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Bulbous nose, Cleft palate, Tented upper lip vermilion, Intrauterine growth retardat... |
OMIM:608670 |
Desmosterolosis |
|
Narrow mouth, Cleft palate, Intestinal malrotation, Depressed nasal bridge, Bifid uvula, Abnormal... |
ORPHA:35107 |
Marshall Syndrome |
|
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Depr... |
OMIM:154780 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color |
ORPHA:1873 |
Holoprosencephaly 3 |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Cleft lip, Solitary m... |
OMIM:142945 |
Lathosterolosis |
|
High palate, Bulbous nose, Gingival overgrowth, Long philtrum, Downturned corners of mouth, Downs... |
ORPHA:46059 |
Kaufman Oculocerebrofacial Syndrome |
|
High palate, Narrow mouth, Sparse eyebrow, Upslanted palpebral fissure, Intestinal malrotation, D... |
OMIM:244450 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Retinal coloboma, Broad nasal tip, Long philtrum, Wide nasal bridge, Downslanted pal... |
OMIM:300749 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Bulbous nose, Prominent nasal tip, Cleft soft palate, Short philtrum, Depressed nasal tip, Broad ... |
ORPHA:293725 |
Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Short nose, Long philtrum |
ORPHA:93328 |
C Syndrome |
|
High palate, Wide mouth, Accessory oral frenulum, Upslanted palpebral fissure, Epicanthus, Short ... |
OMIM:211750 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Severe intrauterine growth retardation, Narrow mouth, Bulbous nose, Duodenal atresia, Short palpe... |
OMIM:614114 |
Autosomal Dominant Robinow Syndrome |
|
Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Short nose, Median cleft ... |
ORPHA:3107 |
Prolidase Deficiency |
|
High palate, Depressed nasal bridge, Short nose, Concave nasal ridge, Ptosis |
OMIM:170100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
High palate, Wide mouth, Convex nasal ridge, Depressed nasal bridge, Death in childhood, Downslan... |
OMIM:300661 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Short nose, Long eyelashes, Natal tooth, Volvulus |
OMIM:617802 |
Baller-Gerold Syndrome |
|
High palate, Anal atresia, Malabsorption, Narrow mouth, Intrauterine growth retardation, Cleft pa... |
ORPHA:1225 |
Nicolaides-Baraitser Syndrome |
|
Wide mouth, Bulbous nose, Sparse medial eyebrow, Downslanted palpebral fissures, Short nose, Long... |
OMIM:601358 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Slanting of the palpebral fissure, Abnormality of the dentition, L... |
ORPHA:476126 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Cleft hard palate, Upslanted palpebral fissure |
ORPHA:166016 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Epicanthus, Short nose, Anteverted nares, Hypoplasia of teeth, Keratoconjunctiv... |
OMIM:234050 |
Toriello-Lacassie-Droste Syndrome |
|
Short palpebral fissure, Limbal dermoid, Telecanthus, Abnormal conjunctiva morphology, Short nose... |
ORPHA:3339 |
Trisomy 8Q |
|
High palate, Cleft palate, Everted lower lip vermilion, Upslanted palpebral fissure, Bifid tongue... |
ORPHA:1752 |
Diaphanospondylodysostosis |
|
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Epicanthus, Short nose, Intrauterine... |
OMIM:608022 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Duodenal atresia, Cleft palate, Upslanted palpebral fissure, Delayed e... |
OMIM:247200 |
3Q29 Microdeletion Syndrome |
|
High palate, Everted lower lip vermilion, Abnormality of the dentition, Short philtrum, Oral clef... |
ORPHA:65286 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Bulbous nose, Thick eyebrow, Macroglossia, Everted lower lip vermilion, Depressed nas... |
OMIM:156200 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Short nose, Prominent nasal bridge, Aganglionic megacolon |
OMIM:613870 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Hypodontia, Cleft palate, Ankyloblepharon, Sparse eyebrow, Sparse eyelashes, Absent lacrimal punc... |
ORPHA:1071 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Deep philtrum, Short nose, Wide nose, Anteverted nares |
OMIM:613320 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Anteverted nares, Depressed nasal bridge, Short nose, Intrauterine growth retardation |
OMIM:614613 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Short nose, Shallow orbits |
ORPHA:1129 |
Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Cleft palate |
OMIM:269250 |
Wiedemann-Steiner Syndrome |
|
High palate, Thick eyebrow, Short palpebral fissure, Long philtrum, Telecanthus, Epicanthus, Shor... |
ORPHA:319182 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose, Narrow palpebral fissure, Upslanted palpebral fissure |
OMIM:618087 |
Desmosterolosis |
|
Alveolar ridge overgrowth, Cleft palate, Hypoplastic nasal bridge, Gingival fibromatosis, Downsla... |
OMIM:602398 |
Limb-Mammary Syndrome |
|
Bifid uvula, Lacrimal duct atresia, Hypodontia, Cleft palate |
OMIM:603543 |
Treacher Collins Syndrome 1 |
|
Wide mouth, Narrow mouth, Cleft palate, Upper eyelid coloboma, Downslanted palpebral fissures, Sp... |
OMIM:154500 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Bulbous nose, Absent eyebrow, Open bite, Abnormality of the den... |
OMIM:115150 |
Monosomy 9P |
|
High palate, Narrow mouth, Thick eyebrow, Cleft palate, Upslanted palpebral fissure, Abnormality ... |
ORPHA:261112 |
Congenital Disorder Of Glycosylation, Type Il |
|
Wide mouth, Depressed nasal bridge, Short nose, Long philtrum |
OMIM:608776 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Short nose, Intrauterine growth retardation |
OMIM:614732 |
Tetrasomy 5P |
|
High palate, Upslanted palpebral fissure, Long philtrum, Epicanthus, Short nose, Anteverted nares... |
ORPHA:3309 |
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation |
|
Narrow mouth, Cleft palate, Depressed nasal bridge, Shallow orbits, Long philtrum, Downslanted pa... |
OMIM:601353 |
Otopalatodigital Syndrome, Type I |
|
Narrow mouth, Cleft palate, Wide nasal bridge, Downslanted palpebral fissures, Short nose, Multip... |
OMIM:311300 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Up... |
ORPHA:177907 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Hypodontia, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae, Smooth phil... |
ORPHA:1973 |
Micro Syndrome |
|
High palate, Retinal coloboma, Short philtrum, Short nose, Anteverted nares, Intrauterine growth ... |
ORPHA:2510 |
Harel-Yoon Syndrome |
|
Short nose, Upslanted palpebral fissure |
OMIM:617183 |
Marshall-Smith Syndrome |
|
Gingival overgrowth, Short nose, Protruding tongue, Choanal atresia, Open mouth, Anteverted nares |
ORPHA:561 |
Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Triangular mouth, Depressed nasal bridge, Delayed eruption of teeth, Downslanted pal... |
OMIM:180700 |
Holoprosencephaly 7 |
|
Upslanted palpebral fissure, Depressed nasal tip, Bilateral cleft lip and palate, Flat nasal alae... |
OMIM:610828 |
3Mc Syndrome 2 |
|
Cleft upper lip, Cleft palate, Depressed nasal tip, Highly arched eyebrow, Downturned corners of ... |
OMIM:265050 |
Distal Monosomy 10Q |
|
High palate, Anal atresia, Cleft palate, Upslanted palpebral fissure, Wide nasal bridge, Downslan... |
ORPHA:96148 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Broad nasal tip, Long philtrum, Carious teeth, Downslanted palpebral fissures, Short... |
ORPHA:357074 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Depressed nasal bridge, Pyloric stenosis, Telecanthus, Short nose, ... |
OMIM:147791 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Thin vermilion border, Long nose, Short philtrum, Depressed nasal bridge, Downturned corners of m... |
OMIM:300912 |
Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Short nose, Narrow palate, Blepharophimosis |
OMIM:614222 |
Fibrochondrogenesis 1 |
|
Narrow mouth, Cleft palate, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, ... |
OMIM:228520 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... |
ORPHA:363417 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Premature loss of teeth, Narrow mouth, Death in early adulthood, Short nose, Dental ... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Narrow mouth, Short palpebral fissure, Upslanted palpebral fissure, Short nose, Wide nose, Protru... |
OMIM:608779 |
Oculodentodigital Dysplasia |
|
Tooth agenesis, Taurodontia, Thin anteverted nares, Cleft palate, Upslanted palpebral fissure, Pr... |
ORPHA:2710 |
Bartsocas-Papas Syndrome 1 |
|
Cleft upper lip, Anal atresia, Ablepharon, Ectropion, Ankyloblepharon, Cleft palate, Upslanted pa... |
OMIM:263650 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Ayme-Gripp Syndrome |
|
Narrow mouth, Upslanted palpebral fissure, Abnormality of the dentition, Depressed nasal bridge, ... |
OMIM:601088 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Duodenal stenosis |
ORPHA:2547 |
Facial Dysmorphism With Multiple Malformations |
|
Anal atresia, Narrow mouth, Bulbous nose, Long palpebral fissure, Downturned corners of mouth, Do... |
OMIM:227255 |
Meier-Gorlin Syndrome 6 |
|
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissures, Shor... |
OMIM:616835 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Taurodontia, Hypodontia, Sparse eyebrow, Everted lower lip vermilion, Sparse eyelashes, Depressed... |
OMIM:305100 |
Trisomy 10P |
|
High palate, Intrauterine growth retardation, Short palpebral fissure, Upslanted palpebral fissur... |
ORPHA:171929 |
Ring Chromosome 7 Syndrome |
|
Severe intrauterine growth retardation, Narrow mouth, Median cleft palate, Cleft palate, Thin ver... |
ORPHA:1449 |
Gaucher Disease, Perinatal Lethal |
|
Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Neonatal death, Short nose, Op... |
OMIM:608013 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
High palate, Anal atresia, Cleft palate, Thin vermilion border, Depressed nasal bridge, Long phil... |
OMIM:614080 |
Subaortic Stenosis--Short Stature Syndrome |
|
Narrow mouth, Diastema, Epicanthus, Short nose, Anteverted nares, Short upper lip, Wide nasal bridge |
OMIM:271960 |
Jacobsen Syndrome |
|
Pyloric stenosis, Downslanted palpebral fissures, Short nose, Intrauterine growth retardation, Ec... |
ORPHA:2308 |
Hypoglossia-Hypodactyly Syndrome |
|
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... |
ORPHA:989 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Cleft palate, Upslanted palpebral fissure, Short philtrum, Highly arched eyebrow, Narrow nose, Do... |
OMIM:301044 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Wide mouth, Dental malocclusion, Narrow palate, Long palpebral fissure, Downslanted ... |
OMIM:227330 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Cleft palate, Intestinal malrotation, Depressed nasal bridge, Short no... |
ORPHA:93259 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Upslanted palpebral fissure, Depressed nasal bridge, Short nose, Anteverted nares |
OMIM:617822 |
Orofaciodigital Syndrome Iii |
|
Bulbous nose, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules |
OMIM:258850 |
Chromosome 17Q12 Duplication Syndrome |
|
Downslanted palpebral fissures, Esophageal atresia, Smooth philtrum, Cleft soft palate |
OMIM:614526 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Adenylosuccinase Deficiency |
|
Wide mouth, Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum |
OMIM:103050 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Cleft upper lip, Gingival overgrowth, Thick eyebrow, Cleft palate, Upslanted palpebr... |
OMIM:213980 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Dental malocclusion, Narrow mouth, Short palpebral fissure, Upslanted palpebral fiss... |
OMIM:211910 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Triangular mouth, Cleft palate, Upslanted palpebral fissure, Depressed nasal bridge, Long philtru... |
OMIM:257300 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Supernumerary tooth, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Depressed nas... |
OMIM:268400 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Narrow mouth, Thin upper lip vermilion, Short nose |
OMIM:613735 |
Cardiofaciocutaneous Syndrome |
|
High palate, Aplasia/Hypoplasia of the eyebrow, Depressed nasal bridge, Long palpebral fissure, S... |
ORPHA:1340 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Deep philtrum, Short nose, Thin upper lip vermilion |
ORPHA:329178 |
Desbuquois Dysplasia 1 |
|
Narrow mouth, Depressed nasal bridge, Long philtrum, Short nose, Concave nasal ridge, Intrauterin... |
OMIM:251450 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Pyloric stenosis, Downslanted palpebral fissures, Short nose, Thin up... |
ORPHA:457279 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Coloboma, Cleft soft palate, Ptosis |
OMIM:606851 |
Orofaciodigital Syndrome Type 4 |
|
Abnormality of the tongue, Cleft palate, Depressed nasal ridge, Short philtrum, Short nose, Intra... |
ORPHA:2753 |
Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Intrauterine growth retardation, Short palpebral fissure, Upslanted palpebral fissure... |
OMIM:301030 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Depressed nasal bridge, Long philtrum, Short nose, Death in infancy, Anteverted nares, Meckel div... |
OMIM:602613 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:2835 |
Coffin-Siris Syndrome |
|
Wide mouth, Thick eyebrow, Broad nasal tip, Depressed nasal bridge, Recurrent upper respiratory t... |
ORPHA:1465 |
Jaberi-Elahi Syndrome |
|
Triangular mouth, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Short nose |
OMIM:617988 |
Kleefstra Syndrome |
|
Macroglossia, Everted lower lip vermilion, Upslanted palpebral fissure, Delayed eruption of teeth... |
ORPHA:261494 |
Trisomy 18 |
|
Anal atresia, Narrow mouth, Narrow palate, Intrauterine growth retardation, Cleft palate, Epicant... |
ORPHA:3380 |
|