Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nectin cell adhesion molecule 1
Synonyms:
nectin-1,  HIgR,  HveC,  Cd111,  Pvrl1,  PRR,  PRR1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nectin1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Nectin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79405
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Orbital cyst, Coloboma OMIM:251505
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79402
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Enamel hypoplasia OMIM:275450
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Carious teeth, Enamel hypoplasia ORPHA:363523
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... ORPHA:251393
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2026
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Carious teeth, Increased connective tissue, Enamel hypoplasia OMIM:226670
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detachment, Corne... ORPHA:1473
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Micrognathia, Arthrogryposis multiplex congenita OMIM:616570
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Mmep Syndrome
Oral cleft, Median cleft lip, Microphthalmia, Mandibular prognathia ORPHA:3434
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Lichtenstein Syndrome
Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... ORPHA:1193
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma, Cataract, Ptosis OMIM:120433
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Cataract, Microphthalmia, Epicanthus ORPHA:2528
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Faciothoracogenital Syndrome
Long philtrum, Micrognathia, Microphthalmia, Smooth philtrum, Thin upper lip vermilion OMIM:227320
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Cleft lip, Inguinal hernia, Increased overbite, Camptod... OMIM:618761
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Microphth... OMIM:611040
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia, Ankyloblepharon OMIM:611038
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Conical tooth, Oligodontia, Scarring alopecia of scalp, Microdontia, Microphth... OMIM:618727
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Micro... OMIM:251270
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... ORPHA:69087
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Delayed eruption of teeth, Micrognathia, Malar flattening OMIM:613849
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Microphthalmia, Dia... OMIM:302350
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... OMIM:618729
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Corneodermatoosseous Syndrome
Abnormality of the dentition, Hypomature dental enamel OMIM:122440
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Microphthalmia, Co... ORPHA:324416
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Micrognathia, Inguina... OMIM:618363
Retinitis Pigmentosa 84
Cataract, Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
X-Linked Hypohidrotic Ectodermal Dysplasia
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion ORPHA:181
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Bilateral microphthalmos, Cataract OMIM:608763
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Microphthalmia, Syndromic 12
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Microphthalmia, Retrognathia OMIM:615524
Cockayne Syndrome Type 2
Anophthalmia, Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Delayed erupti... ORPHA:90322
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Microphthalmia, Mandibular prognathia,... OMIM:601349
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Widely-spaced maxillary central incisors, Thin upper lip vermilion, ... OMIM:619719
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Malar flattening, Bilateral cleft lip and palate, Thin upper lip ... OMIM:618874
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Intellectual Disability, Birk-Barel Type
Short philtrum, Contractures involving the joints of the feet, Open mouth, Tented upper lip vermi... ORPHA:166108
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Ptosis, Microp... OMIM:615145
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Cleft palate, Micrognathia OMIM:221950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Enamel hypoplasia OMIM:607626
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma, Ptosis OMIM:300915
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Cataract, Per... OMIM:143200
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Cleft palate, Thin vermilion border, Incisor macrodontia OMIM:615502
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Hypodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp ORPHA:59303
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Atrophic scars ORPHA:79411
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Hypodontia, Abnormal oral frenulum morp... ORPHA:952
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia OMIM:226730
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Nance-Horan Syndrome
Microphthalmia, Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Coloboma, Downslanted palpebral fissures, Abnormality iris morphology ORPHA:1617
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis, Congenital ptosis OMIM:110150
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition ORPHA:557003
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Immunodeficiency 10
Amelogenesis imperfecta, Hypoplasia of the iris OMIM:612783
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth OMIM:616353
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Abnormality of the mouth, Delayed eruption of teeth ORPHA:181393
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Abnormality of the philtrum, Micro... ORPHA:2863
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... OMIM:170390
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... ORPHA:1515
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Qazi-Markouizos Syndrome
Drooling, Open mouth, Hypoplasia of teeth, High, narrow palate, Broad philtrum ORPHA:3010
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Corneal opacity, Peripheral vitreous opacities, O... ORPHA:137902
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Micrognathia, Increased overbite, Retrognathia, Dental malocclusion, ... OMIM:613684
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Delayed eruption of teeth, Macroglossia OMIM:614450
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Dental malocclusion, Retrognathia OMIM:601552
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigma... OMIM:152950
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Immunodeficiency 9
Amelogenesis imperfecta, Stomatitis, Recurrent aphthous stomatitis OMIM:612782
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition ORPHA:3270
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, High, narrow palate ORPHA:3238
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ecto... OMIM:615877
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Downslanted palpebral fissures, Iris coloboma ORPHA:195
Temtamy Preaxial Brachydactyly Syndrome
Microdontia, Deep philtrum, Talon cusp, Diastema, Cleft palate OMIM:605282
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Palpebral edema, Ptosis, Iris coloboma ORPHA:1259
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Seckel Syndrome 1
High palate, Dental malocclusion, Enamel hypoplasia, Abnormally large globe, Micrognathia, Select... OMIM:210600
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Usher Syndrome
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:886
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Hypoplasia of teeth, Microphthalmia, Cleft palate ORPHA:2728
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Abnormally large gl... ORPHA:363417
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Posterior synechiae of the anterior cham... OMIM:610256
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600906
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Carious teeth, Flexion contracture, Reduced subcutaneous adipose tissue OMIM:612079
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Delayed eruption of teeth, Dental crowding, Wide mouth OMIM:618825
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Atrophic scars OMIM:226600
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Microdontia, Widely spaced teet... OMIM:619293
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Mandibul... ORPHA:1133
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Dent... OMIM:619184
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplasia/Hypoplasia of the iris ORPHA:1067
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Inguinal hernia, Microphthalmia, Tooth agenesis, Cleft palate ORPHA:1135
Acrootoocular Syndrome
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Grayish enamel... ORPHA:2980
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia, Gingival hyperkeratosis... OMIM:225410
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Ohdo Syndrome
Narrow mouth, Long philtrum, Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Smooth philt... OMIM:249620
Oculotrichodysplasia
Carious teeth, Agenesis of permanent teeth, Widely spaced primary teeth, Microdontia of primary t... OMIM:257960
Laron Syndrome
Tooth agenesis, Microdontia, Delayed eruption of teeth, Micrognathia ORPHA:633
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Abnormally large globe, Microdontia, Carious teeth, Natal ... OMIM:269300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Seckel Syndrome 2
Microglossia, Microdontia, Microphthalmia, Micrognathia OMIM:606744
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum OMIM:617337
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Inguinal hernia, Hypocalcification of dental enamel, Umbilical ... ORPHA:3134
Mucopolysaccharidosis Type 4
Hernia, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the dent... ORPHA:582
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Joint cont... OMIM:164200
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Inguinal hernia, Wide mouth, Premature loss of teeth, ... ORPHA:137834
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Hypophosphatasia, Childhood
Premature loss of primary teeth, Carious teeth OMIM:241510
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color OMIM:163200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth OMIM:619356
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Macroglossia, Dental crowding, Broad philt... OMIM:616354
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Mandibular prognathia ORPHA:1858
Frontofacionasal Dysplasia
Absent inner eyelashes, Microcornea, Cataract, Aplasia/Hypoplasia of the eyebrow, Telecanthus, Bl... ORPHA:1791
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Hall-Riggs Syndrome
Thick vermilion border, Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned ... ORPHA:2107
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253000
Microspherophakia With Hernia
Microspherophakia, Retinal detachment, Superior lens subluxation OMIM:157150
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Microphthalmia, Macrodontia, Dental malocclusion, Narrow palate OMIM:617883
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253010
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Coloboma, Entropion OMIM:615113
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Cofs Syndrome
Everted lower lip vermilion, Micrognathia, Microphthalmia, Arthrogryposis multiplex congenita, Ca... ORPHA:1466
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Oligodontia, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:37553
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Malar flattening, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:2180
Temtamy Syndrome
Hypoplasia of teeth, Dental crowding, Long philtrum, Micrognathia OMIM:218340
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Micrognathia, Knee flexion contracture, Microphthalmia, Arthrogryposis multiplex c... OMIM:214150
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, Carious teeth, W... OMIM:619229
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Delayed eruption of permanent teeth, Mandibular prognathia, Facial hyperos... OMIM:218400
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Telecanthus, Iris coloboma ORPHA:1777
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Contractu... ORPHA:2457
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip vermilion, Abnormal dental e... ORPHA:10
Craniosynostosis 3
Dental malocclusion OMIM:615314
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Macular dystrop... ORPHA:75376
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Oslam Syndrome
Carious teeth ORPHA:2760
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... ORPHA:50814
Hypophosphatasia, Adult
Premature loss of primary teeth, Chondrocalcinosis, Carious teeth, Premature loss of permanent teeth OMIM:146300
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Delayed eruption o... OMIM:616367
Osteoglosphonic Dysplasia
Inguinal hernia, Tooth agenesis, Micrognathia, Multiple unerupted teeth ORPHA:2645
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Delayed eruption of teeth, Enamel hypoplasia OMIM:277440
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Enamel hypoplasia, Hernia, Hypodontia, Microdontia, Micrognathia OMIM:617052
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Lower eyelid coloboma, Microphthalmia, Telecan... OMIM:167730
Immunodeficiency 49
Natal tooth, Short philtrum, Umbilical hernia, Micrognathia OMIM:617237
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... OMIM:259775
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Baraitser-Winter Syndrome 2
Long philtrum, Microphthalmia, Retrognathia, Oral cleft, Thin upper lip vermilion, Wide mouth OMIM:614583
Papillorenal Syndrome
Orbital cyst, Morning glory anomaly, Cataract, Retinal detachment, Microphthalmia, Chorioretinal ... OMIM:120330
Pierpont Syndrome
Everted lower lip vermilion, Widely spaced teeth, Microphthalmia, Abnormal subcutaneous fat tissu... ORPHA:487825
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Micrognathia, Congenital diaphragmatic hernia, Inguinal hernia, Crowd... ORPHA:2063
Coffin-Siris Syndrome 3
Delayed eruption of permanent teeth, Wide mouth, Macroglossia OMIM:614608
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Hypoplasia of teeth, Retrognathia OMIM:234050
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, Axillary pterygium, ... OMIM:619339
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Bilateral cleft lip and palate, Conical tooth ORPHA:1997
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Anodontia, Dental malo... OMIM:264475
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Conical tooth OMIM:617475
Cockayne Syndrome Type 1
Anophthalmia, Contractures involving the joints of the feet, Widely spaced primary teeth, Enamel ... ORPHA:90321
4H Leukodystrophy
Abnormality of the dentition, Hypodontia, Drooling, Delayed eruption of teeth ORPHA:289494
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Widely spaced teeth, Micrognathia, Knee flexion contracture, Microphthalmia, Camptod... OMIM:619694
Cherubism
Macular scar, Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Narrow p... OMIM:118400
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract, Rod-cone dystrophy OMIM:613731
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Lipoatrophy, Micrognathia, Hypoplasia of the maxilla, Thin vermilion b... OMIM:601812
Pachyonychia Congenita 2
Natal tooth OMIM:167210
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract, Optic atrophy, Narrow palpebral fissure OMIM:614219
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Retina... ORPHA:139471
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Dental crowding, Anterior open-bite malocclusio... OMIM:602483
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Micrognathia ORPHA:2547
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Micrognathia, Microphthalmia, Downturned corners of mo... ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Microphthalmia, Coloboma OMIM:613153
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth OMIM:147060
Short Syndrome
Lipodystrophy, Hypoplasia of the iris, Microdontia, Abnormal mandible morphology, Inguinal hernia... ORPHA:3163
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Telecanthus, Abnormal eyelash morphology, Lacrimal punctal atresia, Sp... ORPHA:2399
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Megalocornea, Microspherophakia, Deep anterior chamber, Ectopia lentis OMIM:251750
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Ptosis, Microphthalmia, Optic atrophy OMIM:600118
Xk Aprosencephaly Syndrome
Narrow mouth, Microphthalmia ORPHA:3469
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentati... ORPHA:85194
Kilquist Syndrome
Xerostomia, Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia OMIM:617306
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Mandibular prognathia, Camp... ORPHA:1327
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Smooth philtrum... OMIM:157980
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Decreased adipose tissue around neck, Loss of tru... OMIM:608612
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Gombo Syndrome
Microphthalmia OMIM:233270
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Advanced eruption of teeth, Mandibular prognathia OMIM:262190
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Delayed eruption of teeth, High, narrow palate, Macrodontia, Taurodontia ORPHA:3214
Char Syndrome
Thick vermilion border, Short philtrum, Everted lower lip vermilion, Malar flattening, No permane... ORPHA:46627
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Pericallosal lipoma, Hypoplasia of the maxilla,... OMIM:136760
Lowry-Maclean Syndrome
Micrognathia, High, narrow palate, Inguinal hernia, Hypoplasia of the maxilla, Congenital diaphra... ORPHA:2409
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Coloboma, Retinal dy... OMIM:610125
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Hypodontia, Abnormal dental enamel morphology, Mandibular prognathia, Macrodontia... ORPHA:2916
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Bifid uvula, Enamel hypoplasia OMIM:615802
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Downslanted palpebral fissures, Epicanthus OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular prognathia OMIM:259710
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Cleft upper lip, Cleft palate OMIM:613885
Malan Syndrome
Narrow mouth, Everted lower lip vermilion, Hyperplasia of the premaxilla, Retrognathia, Mandibula... OMIM:614753
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Narrow palate, Carious teeth, Thick lower lip vermilion ORPHA:457365
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta, Hypoplasia of the iris ORPHA:169090
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Cigarette-paper scars, Camptodac... OMIM:612350
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower... ORPHA:915
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Camptodactyly of finger, Microphthalmia, Micrognathia ORPHA:48431
Scarf Syndrome
Inguinal hernia, Umbilical hernia, Long philtrum, Enamel hypoplasia OMIM:312830
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Microphthalmia, Smooth philtrum, Micrognathia OMIM:614526
Brachydactyly, Type B1
Camptodactyly, Delayed eruption of permanent teeth, Joint contracture of the hand OMIM:113000
Orofacial Cleft 15
Bilateral cleft palate, Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip OMIM:616788
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Enamel hypoplasia OMIM:610965
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Thick upper lip... ORPHA:2563
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Malar flattening, Abnormal palate morphology, Carious teeth, Retrognathia ORPHA:1390
Cohen Syndrome
Short philtrum, Open mouth, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Macrodo... OMIM:216550
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
X-Linked Non-Syndromic Intellectual Disability
Long philtrum, Delayed eruption of teeth, Drooling, Thick lower lip vermilion, Thin upper lip ver... ORPHA:777
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Micrognathia, Omphalocele, Microphthalmia, Downturned corners of mouth ORPHA:93267
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia ORPHA:2050
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Temple-Baraitser Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, T... ORPHA:420561
Short Syndrome
Lipodystrophy, Delayed eruption of teeth, Hypodontia, Lipoatrophy, Micrognathia, Inguinal hernia,... OMIM:269880
Pierpont Syndrome
Everted lower lip vermilion, Widely spaced teeth, Prominent median palatal raphe, Microphthalmia,... OMIM:602342
Acrocraniofacial Dysostosis
Natal tooth, Short philtrum, Cleft palate, Micrognathia OMIM:201050
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Enamel hypoplasia ORPHA:79403
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... OMIM:119600
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Narrow pala... ORPHA:364028
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Carious teeth, Micrognathia, Abnormality of dental morphology, Abnor... ORPHA:3253
Dysostosis, Stanescu Type
Abnormal palate morphology, Carious teeth, Macroglossia, Hypoplasia of the maxilla, Abnormal dent... ORPHA:1798
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Everted lower lip vermilion, Widely spaced teeth, Thick lower lip vermilion, Smoot... OMIM:615873
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Sanjad-Sakati Syndrome
Long philtrum, Aplasia/Hypoplasia affecting the eye, Micrognathia, Abnormal dental enamel morphol... ORPHA:2323
Porphyria, Congenital Erythropoietic
Erythrodontia, Atypical scarring of skin, Corneal scarring, Abnormality of the mouth, Joint contr... OMIM:263700
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathia, Dentin... OMIM:619269
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Carious teeth, Microdontia, Micrognathia, Microphthalmia, Cleft palate OMIM:616734
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, ... ORPHA:438216
Three M Syndrome 2
High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Dental malocclusion, Thi... OMIM:612921
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia, Camptodactyly of fi... ORPHA:3220
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia OMIM:243150
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy OMIM:274270
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Umbilical hernia, Dental crowding OMIM:619769
Trisomy 9P
Impacted tooth, Dental crowding, Downturned corners of mouth, Non-midline cleft lip ORPHA:236
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Dorsocervical fat pad, Micrognathia, Hy... ORPHA:391408
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, High palate, Flexion contracture, Increased facial adipose tissue, Micrognathia, H... OMIM:248370
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger ORPHA:1883
Trichothiodystrophy 3, Photosensitive
Natal tooth, Eclabion, Carious teeth, Microphthalmia OMIM:616395
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Corneal opacity, Retinal detachm... ORPHA:2788
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Abnormality of dental morphology, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Inguinal hernia, Microph... OMIM:603457
Chst3-Related Skeletal Dysplasia
Flexion contracture, Long philtrum, Delayed eruption of teeth ORPHA:263463
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300