Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
22q11 duplication syndrome |
|
Telecanthus |
DECIPHER:32 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Diastema, Dental Medial |
|
Diastema, Widely-spaced maxillary central incisors |
OMIM:125900 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate, T... |
OMIM:617412 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Orbital cyst |
OMIM:251505 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Absent tragus, Micrognathia, Hypoplasia of the ... |
ORPHA:79113 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibrom... |
ORPHA:3473 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Posteriorly rotated ears, Abnormal eyelid morphology, Micrognathia, High, narro... |
ORPHA:1787 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, L... |
OMIM:608363 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Branchiootic Syndrome |
|
Branchial fistula, Abnormal nasolacrimal system morphology, Lip pit, Micrognathia, Sensorineural ... |
ORPHA:52429 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Ankyloblepharon, Cleft upper lip |
OMIM:106250 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn... |
ORPHA:2016 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Epicanthus, Grayish enamel, Micrognathia, High, narrow palate, Supernu... |
ORPHA:2980 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Delayed skeletal maturation, Joint hyperflexibility, Hypodontia, Hip o... |
ORPHA:63442 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... |
OMIM:601492 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate |
OMIM:600331 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Protruding ear, Coloboma, Macrotia, Hearing impairment |
OMIM:302905 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Micrognathia, Cleft palate |
ORPHA:2015 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment |
ORPHA:2291 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Ptosis |
OMIM:617732 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Micrognathia, Supernumerary tooth... |
ORPHA:77258 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of ... |
ORPHA:502 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Epicanthus, Abnormal dental enamel morphology, Conductive hearing impairment, Aplasia/Hypoplasia ... |
ORPHA:3236 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Dental crowding, Avascular necrosis of the capital femoral ... |
OMIM:190351 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Hearing impairmen... |
OMIM:614669 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Treacher Collins Syndrome 4 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Conductive hearing impairment, Malar flattenin... |
OMIM:618939 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Upslanted palpebral fissure, Malar flattening, High palate, Bifid uvula |
OMIM:300850 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,... |
OMIM:619718 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Humeroradial synostosis, Cleft palate, Metatarsal synostosis, C... |
OMIM:612961 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ... |
OMIM:620107 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Co... |
OMIM:248390 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R... |
ORPHA:1452 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis |
ORPHA:71267 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Cleft palate, Micrognathia |
OMIM:249710 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i... |
ORPHA:90646 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p... |
OMIM:619941 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c... |
ORPHA:1997 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Cleft palate, Coloboma, Chorioretinal coloboma, Con... |
ORPHA:921 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cleft palate, Coloboma, Abnormal oral frenulum morphology, Sho... |
ORPHA:1617 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Sensorineural hearing impairment, Ap... |
ORPHA:90024 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment |
OMIM:120433 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse eyebrow, High, narr... |
OMIM:234100 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E... |
OMIM:619110 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Ge... |
OMIM:620099 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Bifid uvula |
ORPHA:2669 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Absent eyebrow, Epicanthus, Mandibular prognathia, Sparse eyelashes, U... |
OMIM:268400 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re... |
OMIM:146300 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Sparse or absent eyel... |
ORPHA:3353 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... |
ORPHA:2010 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Telecanthus, Abnormal pinna morphology, Abnormality of the mid... |
ORPHA:949 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Cleft lip, Cleft pal... |
OMIM:616898 |
Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low-set ears, Neonatal death... |
OMIM:618393 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Coloboma, Low-set ears, Downslanted pa... |
OMIM:606851 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Epicanthus, Telecanthus, Median cleft lip, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the inner ear, Sens... |
ORPHA:2549 |
Chime Syndrome |
|
Epicanthus, Abnormal dental morphology, Hearing impairment, Abnormality of the dentition, Supernu... |
ORPHA:3474 |
Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Dental crowding, Posteriorly rotated ears, Abnormality of ... |
ORPHA:2789 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula, Hearing impairment |
OMIM:256200 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, Hearing ... |
OMIM:614583 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A... |
OMIM:201550 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes... |
OMIM:612292 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia |
OMIM:183700 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Schilbach-Rott Syndrome |
|
Epicanthus, Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Upslanted palpeb... |
OMIM:164220 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Abnormali... |
OMIM:616331 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa... |
ORPHA:1484 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence,... |
OMIM:620183 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Underfolded helix, Highly arched eyebrow, Abnormality of the denti... |
ORPHA:178303 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Iris coloboma, Downslanted palpebral fissures, Bifid uvula |
OMIM:155145 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of mouth, Wide mouth,... |
OMIM:618779 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:119600 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Lower eyelid col... |
OMIM:154500 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... |
OMIM:619981 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... |
OMIM:612290 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Highly arched eyebrow, Micrognathia... |
OMIM:613684 |
Buratti-Harel Syndrome |
|
Epicanthus, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, ... |
OMIM:619314 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Retrognathia,... |
ORPHA:314621 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia, Sensorineural hearing impairment, Median cleft lip, Cleft palate |
DECIPHER:46 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening, Downslanted... |
ORPHA:86818 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, High palate, Low-set ears, Neonatal death, Retrognathia, Downslanted palpebral fiss... |
OMIM:611890 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:265800 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog... |
ORPHA:2136 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Delayed ske... |
ORPHA:884 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Knee flexion contracture, Genu ... |
ORPHA:166016 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Downslanted palpebral fissures, Smooth philtrum |
OMIM:614526 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyelashes, Abnormality of the philtrum, Cleft upper lip, Sparse eyebrow, Abnormality of th... |
OMIM:225060 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Posteriorly rotated ears, Hamartoma of tongue, Micro... |
OMIM:615948 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Micrognathia, Non-midline cleft lip, Ectropion of lower eyelid... |
ORPHA:246 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners o... |
ORPHA:217017 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Coloboma, W... |
OMIM:136760 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, Iris coloboma, ... |
OMIM:300166 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hearing impairment, Upper eyelid coloboma, C... |
OMIM:619736 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sparse eyebrow, Sen... |
OMIM:606164 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, n... |
ORPHA:2108 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Pursed lips, Death in infancy, Mi... |
ORPHA:800 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Hearing impairment, Abnormal eyelash morphology, External ear malformati... |
ORPHA:1252 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C... |
OMIM:300946 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Telecanthus, Accessory oral frenulum, Hamar... |
ORPHA:434179 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:3201 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru... |
ORPHA:166108 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abnormality of c... |
ORPHA:364577 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Cleft upper lip, Micrognathia, Conductive hearing impairment, Lower eyelid... |
OMIM:608572 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... |
OMIM:618529 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Wormian bones, Dental crowding, Carious teeth, Cu... |
OMIM:269300 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Osteopenia, Abnormal dental enamel morphology, Selective tooth agenesi... |
ORPHA:2909 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Stapes ankylosis, Mandibular prognathia, Dental crowding, Absent malle... |
OMIM:614188 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of h... |
OMIM:619122 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix,... |
OMIM:609654 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed skeletal maturation, Macroglossia,... |
OMIM:614450 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Short palpebral fissure, Cleft maxillary alveolar ridge |
OMIM:619452 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Delayed skeletal maturation, Dental ... |
ORPHA:61 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon |
ORPHA:1072 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Pai Syndrome |
|
Telecanthus, Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Down... |
ORPHA:1993 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Upper lip pit, Abnormal pinna morphology, Conductive hearing i... |
ORPHA:1297 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flatte... |
OMIM:604841 |
Distal Deletion 12Q |
|
Telecanthus, Median cleft lip, Micrognathia, High, narrow palate, Esophageal atresia, Supernumera... |
ORPHA:96149 |
Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotated ears, Abnor... |
ORPHA:818 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Intestinal malrotation, Highly arche... |
OMIM:614701 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f... |
OMIM:113650 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Joi... |
OMIM:147060 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Delayed skeletal maturation, Abnormality... |
ORPHA:633 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Lateral Meningocele Syndrome |
|
Telecanthus, Dental crowding, Posteriorly rotated ears, Abnormality of the middle ear ossicles, M... |
OMIM:130720 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Thickened helices, Promin... |
ORPHA:293725 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Micrognathia, Hypo... |
ORPHA:245 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Cleft palate, Open mouth, Ptosis |
OMIM:147800 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Non-midline cleft lip, Aplasia/Hypoplasia of the earlobes, Cle... |
ORPHA:1104 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion... |
OMIM:612350 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening |
ORPHA:93946 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals |
OMIM:269630 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Join... |
ORPHA:2496 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal ear morphology, Cleft lip, Cleft palate, Coloboma |
ORPHA:91412 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, ... |
OMIM:613456 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Antecubital pterygium, Cleft pa... |
OMIM:618469 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Coloboma, Low-set ears |
OMIM:601357 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion, Ectropion |
OMIM:242500 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... |
OMIM:618106 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Posteriorly rotated ears, Micrognathia, High, narrow palat... |
ORPHA:2780 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow... |
ORPHA:2804 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis,... |
ORPHA:2063 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Hearing impairment, Micrognathia, Gingival overgrowth, Narrow palate, Thick vermilion... |
OMIM:618186 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... |
OMIM:608670 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Almond-shaped palpebral fissure, Epiblepharon, Submucous cleft hard palate... |
OMIM:619103 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Delayed skeletal maturation, Cleft palate, Wide mouth, Macroglossia, Delayed erupti... |
OMIM:614608 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submu... |
OMIM:114300 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Death in infancy, Stillbirth, High palate, Neonatal death, Ect... |
ORPHA:85212 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Delayed skeletal maturation, Abnormali... |
ORPHA:1327 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of middle ear ossicl... |
OMIM:613717 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Esophageal stricture, Hypodontia |
OMIM:616029 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears |
OMIM:618295 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglo... |
OMIM:617088 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola... |
ORPHA:2751 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode... |
OMIM:612863 |
Native American Myopathy |
|
Micrognathia, Bilateral ptosis, Conductive hearing impairment, Cleft palate, Downturned corners o... |
ORPHA:168572 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Optic disc coloboma, Cupped ear, Cle... |
ORPHA:52055 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Cleft palate, ... |
OMIM:614607 |
Cerebrocostomandibular Syndrome |
|
Epicanthus, Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious tee... |
OMIM:117650 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ... |
OMIM:214150 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingi... |
ORPHA:2189 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Submucous cleft hard palate, Upsl... |
OMIM:619680 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Micrognathia, Delayed skeletal maturation, Tooth agenesis, Multiple unerupted t... |
ORPHA:2645 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia, Congenital pyloric atresia |
OMIM:612138 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm... |
ORPHA:46627 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrima... |
OMIM:620192 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... |
OMIM:300990 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Cupped ear, Xerostomia, Lac... |
OMIM:620193 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the ha... |
OMIM:113000 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment... |
ORPHA:353277 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m... |
ORPHA:2107 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... |
ORPHA:353281 |
Bresek Syndrome |
|
Aganglionic megacolon, Cleft palate, Protruding ear, Low-set ears, Neonatal death, Iris coloboma,... |
ORPHA:85284 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Limitation of joint mobility, Ectopic ossification in liga... |
ORPHA:337 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft hard palate, Cl... |
ORPHA:69085 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Hearing impairment, Conical tooth, Sparse eyebrow, Cle... |
OMIM:129400 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o... |
OMIM:614753 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hearing impairment, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent o... |
ORPHA:2728 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment, ... |
OMIM:202650 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Enlarged joints, Flexion contracture, Abnormality of the elbow, Genu v... |
ORPHA:263463 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Protruding ear, Upslanted palpebral fis... |
ORPHA:268261 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth, Everted lower lip vermilion, Low... |
OMIM:616789 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... |
ORPHA:247806 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ... |
ORPHA:1299 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr... |
OMIM:613680 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis |
ORPHA:2760 |
Proximal Symphalangism |
|
Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Metacarpophalangeal synostosis, Pr... |
ORPHA:3250 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Joubert Syndrome 14 |
|
Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Cleft pa... |
OMIM:614424 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Synophrys, Lacri... |
OMIM:603457 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Highly arched eyebrow, Hearing impairment, Micrognathia, Microtia, Submucous c... |
ORPHA:2282 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi... |
ORPHA:99742 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Total... |
OMIM:600501 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Limb-Mammary Syndrome |
|
Cleft palate, Hypodontia, Camptodactyly, Joint contracture of the hand, Bifid uvula |
OMIM:603543 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Upslanted ... |
ORPHA:1790 |
Eiken Syndrome |
|
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Flat ac... |
OMIM:600002 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... |
OMIM:613312 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Epicanthus, Hearing impairment, Abnormality of the dentition, Thick lower lip ve... |
ORPHA:94065 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin... |
OMIM:614592 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Pierre-R... |
OMIM:108300 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... |
OMIM:174300 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Momo Syndrome |
|
Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Dental maloccl... |
OMIM:157980 |
Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Cleft palate, Coloboma, Low-set ears, Downslanted palpebral fissures, Anal atresia |
OMIM:220210 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo... |
OMIM:616462 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Retrognathia, Cleft palate |
OMIM:165590 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... |
OMIM:218400 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum |
ORPHA:314647 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Hooded eyelid, Micrognathia, Sensorineural hearing impairment, Subm... |
OMIM:618971 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Micrognathia, Carious teeth, Velophar... |
OMIM:223370 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Genu recurvatum, Osteoporosis, Flat acetabular roof, Delayed ossificat... |
OMIM:184260 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Lop ear, Sensorineural hearing impairment, Optic disc coloboma, Cupped ... |
OMIM:300472 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
8Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Branchial cyst, Posteriorly rotated ears, ... |
ORPHA:508488 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Highly arched eyebrow, Asymmetry of the ears, Sparse... |
OMIM:619124 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Delayed closure of... |
OMIM:607812 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Neonatal death, Microdontia, De... |
OMIM:259775 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Delayed closure of th... |
OMIM:224300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Exaggerated cupid's bow, Hearing impairment, Micrognathia, Prominent ear helix, Upsla... |
OMIM:618659 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Coloboma, Anal atresia, Simple ear |
OMIM:619318 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Codas Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Abnormal dental morphology, Abnormal denta... |
ORPHA:1458 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hearing impairment, Hypoplasia of the maxilla, ... |
ORPHA:2588 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Orofacial cleft |
ORPHA:324416 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Downturned corners of mouth, Coloboma, Low-set ears... |
OMIM:618652 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma |
OMIM:610023 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin... |
OMIM:200990 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp... |
OMIM:170390 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Synophrys, Protrudin... |
ORPHA:329224 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Delayed closure of the anterior fontanelle, Absent frontal sinuses, Cap... |
OMIM:311300 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Delayed skeletal maturation, Dental malocclusion, Thick vermilion bord... |
OMIM:612921 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth, Synostosis of jo... |
ORPHA:1234 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate, Micrognathia |
OMIM:243440 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2050 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Lowry-Maclean Syndrome |
|
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2409 |
Trisomy 8P |
|
Posteriorly rotated ears, Malrotation of small bowel, Aplasia/Hypoplasia of the tragus, Cleft pal... |
ORPHA:264450 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Intestinal malrotation, Micrognathia, Submucous cl... |
ORPHA:35107 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... |
ORPHA:364028 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Micrognathia, Genu valgum, Irregular acetabular roof,... |
ORPHA:93316 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Chand Syndrome |
|
Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Ag... |
ORPHA:1401 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... |
OMIM:619322 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, Bifid uvula, S-s... |
OMIM:229400 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... |
ORPHA:3426 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnormality of ... |
OMIM:192430 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Low-set e... |
OMIM:611961 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... |
OMIM:277440 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, High, narrow palate, Hip dislocation, Radio... |
ORPHA:3258 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Abnormality of cart... |
ORPHA:2399 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Cleft palate, Mi... |
OMIM:301043 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... |
ORPHA:2563 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Dental crowding, Multiple joint... |
ORPHA:96170 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal... |
ORPHA:363444 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Malabsorption, Keratoconjunctivitis, Tympanosclerosis, Enamel hypoplasia |
OMIM:240300 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b... |
OMIM:613805 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Tarp Syndrome |
|
Posteriorly rotated ears, Micrognathia, Cleft palate, Tongue nodules, Prominent antihelix, Glosso... |
OMIM:311900 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal... |
OMIM:606895 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Abnormal eyelid morphology,... |
ORPHA:2671 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Posteriorly rotated ears, Hearing impairment, Abnormality of the dent... |
OMIM:115150 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia, Lower limb pain |
ORPHA:2309 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris... |
OMIM:619539 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hip dislocation, Osteolytic d... |
ORPHA:2484 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Micrognathia,... |
ORPHA:251028 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Flexion contracture, Widely spaced prim... |
ORPHA:90322 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Dacryocystitis, Sensorineural hearing impairment, Gingival overgrowth, Coloboma, Thin vermilion b... |
ORPHA:464288 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Prominent metopic ridge, Tented upper lip vermili... |
OMIM:619148 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Cleft pa... |
OMIM:611209 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Cleft palate, Coloboma, Long philtrum, Retrognathia |
OMIM:615583 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:264700 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Cleft palate, Low-set ears, Narrow mouth, Neonatal death, Short palpebral fissure |
OMIM:251230 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia |
OMIM:619525 |
Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Submucous cleft hard palate, Cleft palate, Protruding ear, Low-set ears... |
ORPHA:899 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc... |
OMIM:610253 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Hip subluxation, Pierre-... |
OMIM:268305 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal... |
ORPHA:2215 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed... |
ORPHA:289157 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Bifid uvula, Incomplete partition ... |
OMIM:617660 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Micrognathia, Flexion contracture, Submucous cleft hard palate, Epiphyseal stippling,... |
OMIM:222765 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ... |
ORPHA:950 |
Biemond Syndrome Type 2 |
|
Coloboma |
ORPHA:141333 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Downturned corners of mouth, Death in infancy, Neonatal death, Micrognathia |
OMIM:616342 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Micrognathia, Synophrys, Optic disc coloboma, Deep philtrum, Cleft palate, Downturned... |
ORPHA:251014 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
3M Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Abnormal dental enamel morphology, Delayed... |
ORPHA:2616 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A... |
ORPHA:2753 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Kabuki Syndrome |
|
Ptosis, Abnormal dental morphology, Highly arched eyebrow, Lip pit, Abnormality of the dentition,... |
ORPHA:2322 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Low-set ears |
OMIM:614870 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ... |
OMIM:609029 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Abnormality of the gingiva, Absent cupid's bow, Abnorm... |
ORPHA:513456 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Epicanthus, Mixed hearing impairment, Cleft soft... |
OMIM:614557 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,... |
OMIM:201000 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Osteopenia, Joint dislocation, Abnormal dental enamel morphology, Abno... |
ORPHA:221016 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Patellar aplasia, Knee flexion contract... |
ORPHA:85201 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, High, ... |
ORPHA:2554 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Thickened helices, Abnormal eyelash morphology, Su... |
ORPHA:1340 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Hip dislocation, Wide mouth, C... |
ORPHA:96092 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Delayed skeletal maturation, Gingival overgrowth, Nar... |
OMIM:235510 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle... |
OMIM:300867 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Low-set ear... |
ORPHA:457279 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Delayed skeletal maturati... |
ORPHA:2315 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... |
OMIM:147250 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depression, Decreased calvari... |
ORPHA:313855 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Narrow mouth, Neonatal death, Malar flattening, Pterygium |
OMIM:224410 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Micrognathia, Delayed skeletal maturation, Dental malocc... |
OMIM:269880 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Congenital Myopathy 22A, Classic |
|
Dental crowding, Micrognathia, Bilateral ptosis, Synophrys, High palate, Neonatal death, Open mou... |
OMIM:620351 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Anal stenosis, Low-set, posteriorly r... |
ORPHA:235 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Prominent crus ... |
OMIM:619194 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Low-set ears, Retrogn... |
OMIM:619227 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Delayed skeletal ma... |
OMIM:272460 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Delayed skeletal maturation, Osteoporosis, Micrognathia |
ORPHA:73272 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Join... |
ORPHA:2067 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Death in infancy, Retrognathia, High palate |
OMIM:300219 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Bifid uvula, Cleft upper... |
OMIM:300373 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Dental crowding, Symblepharon, Posteriorly rotated ears, Conductive hearing impairmen... |
OMIM:618175 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Hearing im... |
OMIM:309500 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Hooded eyelid, Uplifted earlobe, Micrognathia, Synophrys, Short philtrum, ... |
OMIM:619841 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal nasolacrimal system morphology, Posteriorly rotated ears, Micrognathia, Submucous cleft ... |
ORPHA:3047 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hearing impairment, Cleft palate, Furrowed tongue, Downturned corners of mouth, Coloboma, Oligodo... |
ORPHA:453499 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Large knee, Delayed eruption of permanent teeth, Periodontitis, Premature loss of tee... |
OMIM:619269 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Upslanted palpebral fissure,... |
OMIM:609313 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612462 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo... |
OMIM:601812 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, Accelerated skeletal maturation, High, narrow palate, Narrow... |
OMIM:117550 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth,... |
OMIM:620370 |
Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Solitary median maxillary central incisor, Malar flattening, Cyclopia, B... |
OMIM:142945 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Epicanthus, Sensorineural hearing impairment, Microtia, High palate, Hypoplasia of the zygomatic ... |
OMIM:618500 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Malabsorption, Abnormalit... |
ORPHA:581 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Restrictive Dermopathy 1 |
|
Natal tooth, Entropion, Sparse eyelashes, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuco... |
OMIM:275210 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Narrow palpebral fissure, Stillbirth, Low-set ears, Neonatal death |
OMIM:236500 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Meckel diverticulum |
OMIM:616395 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Marden-Walker Syndrome |
|
Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft pala... |
ORPHA:2461 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Increased bone mineral density, Osteomalacia, Rickets of the lower lim... |
ORPHA:289176 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, High, n... |
ORPHA:2658 |
Joubert Syndrome 16 |
|
Coloboma |
OMIM:614465 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High p... |
OMIM:123790 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Diamond-Blackfan Anemia |
|
Epicanthus, Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Aden... |
ORPHA:124 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Cleft lip, Hypoplasti... |
OMIM:616300 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Joint hypermobility, Carious teeth, Widely spaced... |
OMIM:619229 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter... |
OMIM:119500 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Reduced bo... |
ORPHA:828 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Rectal atresia, Neonatal death, Anal atresia |
OMIM:613390 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Accelerated skeletal m... |
ORPHA:199276 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Cleft palate |
OMIM:610125 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Cleft palate |
ORPHA:158687 |
Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Knee... |
OMIM:143095 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Thick lower lip vermilion, Flexion cont... |
OMIM:309900 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Protein-losing enteropathy, Low-set ears, Long philtrum, Neonatal death |
OMIM:608104 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Micrognathia, Cleft palate, High palate, Long philtrum, Anal atresia |
OMIM:154230 |
Aplasia Of Lacrimal And Salivary Glands |
|
Absent lacrimal punctum, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland apl... |
OMIM:180920 |
Microphthalmia With Limb Anomalies |
|
Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, Cleft upper lip, Hypoplasia of the ... |
ORPHA:1106 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ... |
OMIM:101800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, C... |
OMIM:616975 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Thin vermilion border, Low-set ears |
OMIM:610015 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Micrognathia, Neonatal death, Narrow mouth |
OMIM:618810 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J... |
OMIM:247200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow... |
OMIM:268310 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, High palate, Simple ear, Highly arched eyebrow, Low-set ... |
OMIM:619325 |
Zttk Syndrome |
|
Epicanthus, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the maxilla, Submucous cl... |
OMIM:617140 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Tracheomalacia, Anal atresia |
ORPHA:261652 |
Steinfeld Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Retinal coloboma, Iris coloboma, Bifid uvula, Medi... |
OMIM:184705 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... |
ORPHA:444072 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:221008 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Smo... |
OMIM:619321 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Accelerated skeleta... |
ORPHA:50945 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... |
OMIM:122470 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Coloboma, Sh... |
OMIM:617306 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... |
ORPHA:476126 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... |
OMIM:157170 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Deep philtrum, Downturned corner... |
OMIM:619503 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Accelerated skeletal maturation, O... |
ORPHA:77301 |
Gapo Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, High, n... |
OMIM:230740 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2962 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Protruding ear, Coloboma, Macroglossia, Retinal col... |
OMIM:617107 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Persistence of primary teeth, Micrognathia, Dental mal... |
ORPHA:97360 |
Ramon Syndrome |
|
Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Upslanted palpebral fissure, Wide mouth, Widely spaced teet... |
OMIM:300967 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Delayed eruption of p... |
ORPHA:521445 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... |
OMIM:309350 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esoph... |
OMIM:301068 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... |
ORPHA:90321 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Submucous c... |
OMIM:235730 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hama... |
OMIM:269860 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Stillbirth, Tongue fasciculations, Death in childhood, Neonatal death, Hearing ... |
OMIM:614922 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Camptodactyly of finger, Craniosyno... |
OMIM:166250 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Delayed skeletal maturation... |
ORPHA:769 |
Codas Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Generalized joint laxity, Delayed skeletal... |
OMIM:600373 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Gingiv... |
OMIM:135500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Micrognathi... |
OMIM:617925 |
Afibrinogenemia, Congenital |
|
Death in infancy, Death in adolescence, Gingival bleeding, Death in childhood, Neonatal death |
OMIM:202400 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Chorioretina... |
OMIM:309800 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Anteriorly place... |
OMIM:261540 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d... |
ORPHA:94089 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth... |
OMIM:301072 |
Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Cleft lip, Tracheoesophagea... |
ORPHA:2745 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Dental malocclusion, Arthritis, Juvenile rheumatoid arthritis, Lower l... |
ORPHA:1855 |
Campomelic Dysplasia |
|
Irregular dentition, Epicanthus, Hearing impairment, Micrognathia, Carious teeth, Conductive hear... |
OMIM:114290 |
Restrictive Dermopathy |
|
Natal tooth, Telecanthus, Entropion, Micrognathia, Sparse eyebrow, Submucous cleft hard palate, T... |
ORPHA:1662 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cleft pal... |
ORPHA:2636 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... |
OMIM:619472 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Wide mouth, Short ... |
OMIM:280000 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Orofacial cleft, High palate, Conductive hearing impairment, Thickened helices, Bifid ... |
OMIM:607872 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Bone ... |
ORPHA:666 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Coloboma, Long eyelashes, Long philtrum, Cryptophthalmos |
OMIM:615877 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Delayed skeletal maturation, Decreased skull ossific... |
ORPHA:93325 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Joint stiffness, Carious teeth, Flexion contracture, Genu valgum, Macr... |
OMIM:253200 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
Charge Syndrome |
|
Eyelid coloboma, Hypoplasia of the semicircular canal, Chorioretinal coloboma, Iris coloboma, Low... |
ORPHA:138 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermi... |
OMIM:615873 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:180849 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Micrognathia, Cleft palate, Coloboma, Microtia, Atresia of the external auditory... |
OMIM:236670 |
Acro-Renal-Ocular Syndrome |
|
Epicanthus, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc coloboma, Colobom... |
ORPHA:959 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Th... |
ORPHA:2785 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Wormian bon... |
OMIM:278250 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, N... |
OMIM:608013 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Cleft lip, Synophrys, Cleft palate, Coloboma, Re... |
ORPHA:97297 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Sparse eyebrow, Hypoplasia of the maxilla, Cleft palate, Protruding ear, Downturned c... |
ORPHA:500150 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Low-set ears |
OMIM:619859 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Hip... |
OMIM:182250 |
Pallister-Hall Syndrome |
|
Natal tooth, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Anteriorly placed anus, Mic... |
OMIM:146510 |
Lead Poisoning |
|
Delayed eruption of teeth, Delayed skeletal maturation |
ORPHA:330015 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig... |
OMIM:612289 |
Atelosteogenesis, Type I |
|
Micrognathia, Cleft palate, Stillbirth, Low-set ears, Neonatal death, Malar flattening |
OMIM:108720 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,... |
ORPHA:2152 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261537 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Esophag... |
ORPHA:2896 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Micrognathia, Coloboma, Protein-losing enteropathy, Low-set ears |
OMIM:618183 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Abnormality of the ear, Downturned corners of mouth, Short philtrum, Premature loss of... |
ORPHA:3455 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Carious teeth, Delayed skeletal ... |
ORPHA:811 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Orbital cyst, Retrognathia, Cleft palat... |
OMIM:607932 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the ... |
ORPHA:280365 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn... |
OMIM:616268 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Abnormality of the gingiva, Wide ... |
ORPHA:798 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Cleft upper lip, Absent eyelashes, Swollen lip, Micrognathia, Thick lower lip vermili... |
OMIM:256520 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative coliti... |
ORPHA:79259 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Hearing impairment, Cleft lip, Pyloric stenosis, Abnor... |
ORPHA:1199 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261552 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Avascular necrosis of the capital ... |
ORPHA:93357 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2834 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Delayed skeletal maturation, T... |
ORPHA:1465 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Premature loss of primary teeth, Craniosynostosis... |
ORPHA:667 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor... |
ORPHA:363611 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Low-set ears, Death in childhood, Neonatal death, Long philtrum |
OMIM:614052 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
Autosomal Dominant Keratitis |
|
Aniridia, Coloboma |
ORPHA:2334 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Hiatus hernia, Avascular necrosis of the capital femoral epiphysis, Hig... |
ORPHA:198 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density |
ORPHA:79444 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Micrognathia |
OMIM:253310 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Duodenal ulcer, Intestinal mal... |
OMIM:135900 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Ankle clonus, Talipes valgus, Submucous cleft hard palate, Flexion contracture |
OMIM:618891 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Limitat... |
OMIM:216400 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm... |
ORPHA:404448 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hearing impairment |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Hearing impairment |
OMIM:618839 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Micrognathia, Joint stiffness, Pyloric stenosi... |
ORPHA:199 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Bone pain, Limitation of j... |
ORPHA:1328 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Ectopic ... |
ORPHA:79443 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of finger, Cleft upp... |
OMIM:249000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... |
OMIM:620186 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi... |
OMIM:133540 |
Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,... |
OMIM:264090 |
Bloom Syndrome |
|
Malar flattening, Agenesis of maxillary lateral incisor, Protruding ear |
OMIM:210900 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma |
OMIM:610256 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Joint laxity, Congenital hip dislocation, Intestinal malrotation, Clef... |
OMIM:305600 |
Roberts-Sc Phocomelia Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Cleft upper lip, Micrognathia, Cleft palate,... |
OMIM:268300 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognath... |
OMIM:606170 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
Floating-Harbor Syndrome |
|
Enlarged joints, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac d... |
ORPHA:2044 |
Charge Syndrome |
|
Micrognathia, Coloboma, Iris coloboma, Cleft upper lip, Aplasia of the semicircular canal, Esopha... |
OMIM:214800 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C... |
OMIM:265380 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Joint laxity, Increased bone mineral dens... |
ORPHA:904 |
Lymphatic Malformation 13 |
|
Neonatal death, Unilateral deafness, Smooth philtrum, Long philtrum |
OMIM:620244 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... |
ORPHA:191 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Death in infancy, Aganglionic megacolon, Hearing impairment, Absent eyelashes, Cl... |
OMIM:308205 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon |
OMIM:619362 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Radial head subluxation, Hip ... |
ORPHA:672 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Flexion contracture, Anteri... |
OMIM:601803 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Abnormality of t... |
ORPHA:821 |