Gene Summary

Name:
ameloblastin
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged kidney Ambnem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Ambnem1(IMPC)Mbp HOM Early adult 0.00
small kidney Ambnem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

37 Images

X-ray

XRay Images Whole Body Dorso Ventral

75 Images

Human diseases caused by Ambn 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 associated to Ambn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Exostoses ORPHA:1653
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Taurodontism
Taurodontia OMIM:272700
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Osteomas Of Mandible
Abnormal mandible morphology, Osteoma OMIM:166400
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Junctional Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Steatocystoma Multiplex With Natal Teeth
Steatocystoma multiplex, Natal tooth OMIM:184510
Steatocystoma Multiplex
Steatocystoma multiplex, Natal tooth OMIM:184500
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia OMIM:226700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... ORPHA:251393
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Actinic keratosis, Oropharyngeal squamous cell carcinoma, Conical incisor, Enamel ... OMIM:614564
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Everted lower lip vermilion,... ORPHA:1193
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:226670
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Carious teeth, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... OMIM:618363
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate ORPHA:99329
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... OMIM:619719
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypod... OMIM:253250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth OMIM:212780
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Lymphoma, Thick lower lip vermilion, Abnorma... ORPHA:10
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Self-Improving Dystrophic Epidermolysis Bullosa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79411
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los... ORPHA:1811
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia ORPHA:59303
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Braddock-Carey Syndrome 1
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... OMIM:619980
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Inclusion body fibromatosis, Camptodactyly, Hypoplasia of teeth, Flexion contracture, Accessory o... ORPHA:88630
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Oculoskeletodental Syndrome
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia ORPHA:557003
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Squamous cell carcinoma, E... OMIM:226600
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Anodontia, Delayed eruption of prim... ORPHA:90322
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Carious teeth, Abnormal palate morphology ORPHA:3270
Oslam Syndrome
Carious teeth, Osteosarcoma ORPHA:2760
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Refractory anemia wit... ORPHA:1133
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology, Hemangioma, Basal cell carcinoma OMIM:163200
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of the dentition... ORPHA:363417
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... OMIM:618874
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Widely spaced teeth, Exaggerated cupid's bow, Microdontia, Thin upper lip ve... OMIM:619293
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Dental malocclusion, High palate OMIM:618292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm... OMIM:619184
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia... ORPHA:2980
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Familial Adenomatous Polyposis 1
Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Keloids, Eru... OMIM:175100
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Gombo Syndrome
Microphthalmia OMIM:233270
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Shagreen patch ORPHA:1816
Cranioectodermal Dysplasia 4
Taurodontia, Smooth philtrum, Thin vermilion border OMIM:614378
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Capillary hem... ORPHA:50814
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... ORPHA:582
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Specific Granule Deficiency 2
Tooth malposition, Amelogenesis imperfecta, Myelodysplasia, Conical tooth OMIM:617475
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Inguinal ... ORPHA:96263
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening ORPHA:2180
Hypophosphatasia, Adult
Chondrocalcinosis, Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth OMIM:146300
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Downturned corners of mouth, Microg... ORPHA:2409
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft palate ORPHA:1997
Craniosynostosis 3
Dental malocclusion OMIM:615314
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Multiple unerupted teeth, Hepatoblastoma, Brain neoplas... ORPHA:79665
Trisomy 4P
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Abnormal palate morphology,... ORPHA:1738
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Advanced ... ORPHA:952
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ... ORPHA:438216
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Taurodont... ORPHA:96264
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253000
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Short philtrum, Hypodonti... OMIM:620250
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Tuberous Sclerosis 1
Dental enamel pits, Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Re... OMIM:191100
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Malar flattening, Abnormal palate morphology, Retrognathia ORPHA:1390
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Temtamy Syndrome
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum OMIM:218340
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ... ORPHA:2863
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Hyp... ORPHA:199302
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition OMIM:615802
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi... OMIM:164200
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion ORPHA:457365
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253010
Hamamy Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo... OMIM:611174
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion OMIM:616202
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Malar flattening, Pr... OMIM:259775
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/aplasia ORPHA:195
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture OMIM:612079
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ... ORPHA:90321
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia ORPHA:2728
Orofacial Cleft 15
Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral... OMIM:616788
Kilquist Syndrome
Hypoplasia of teeth, Wide mouth, Mandibular prognathia OMIM:619080
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Bone Marrow Failure Syndrome 3
Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene... OMIM:617052
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... ORPHA:2916
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... ORPHA:3163
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion OMIM:144750
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Neoplasm, Hypocalcification of dental enamel ORPHA:169090
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nanophthalmos
Microphthalmia ORPHA:35612
Schimke Immuno-Osseous Dysplasia
Microdontia, Abnormal primary molar morphology, Hypodontia, Non-Hodgkin lymphoma, Lymphoprolifera... ORPHA:1830
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia OMIM:618458
Gastrointestinal Defects And Immunodeficiency Syndrome 1
T-cell lymphoma, Enamel hypoplasia, Omphalocele OMIM:243150
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Acrofacial Dysostosis, Catania Type
Micrognathia, Carious teeth, Malar flattening, Cleft palate OMIM:101805
Orofaciodigital Syndrome I
Microretrognathia, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... OMIM:311200
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Premature loss of teeth OMIM:610965
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Neoplasm of the skin, Carious teet... ORPHA:659
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ... OMIM:608612
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ... ORPHA:444072
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t... OMIM:620545
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Open bite, Micrognathia, Abnormal palate morphology, Lipoatrophy, Shagreen patch ORPHA:2617
Lacrimoauriculodentodigital Syndrome 2
Hypodontia, Conical tooth, Carious teeth, Microdontia OMIM:620192
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Dorsocervical fat pad, Ol... ORPHA:391408
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Microphthalmia OMIM:613730
Celiac Disease, Susceptibility To, 1
Recurrent aphthous stomatitis, Enamel hypoplasia, Stomatitis, Lymphoma OMIM:212750
Nanophthalmos 4
Microphthalmia OMIM:615972
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Bifid uvula, Long philtrum, Thick lower lip v... OMIM:154780
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger ORPHA:1883
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bon... ORPHA:1452
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Malar flattening, Del... OMIM:119600
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth OMIM:618825
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Ging... ORPHA:137834
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva... OMIM:235510
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Camptoda... ORPHA:2710
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly OMIM:608257
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Developmental And Epileptic Encephalopathy 100
Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip... OMIM:619777
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Capillary hemangioma, Malar... OMIM:607812
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Congenital Syphilis
Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun... ORPHA:499009
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... OMIM:619269
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia ORPHA:633
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis OMIM:612782
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... OMIM:601701
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Cleft mandible, Facial capillary hemangioma, Tented upper li... ORPHA:364577
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... ORPHA:73223
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth OMIM:126550
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Delayed eruption o... ORPHA:289
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Atypical scarring of skin, Keloids, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79410
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency OMIM:613680
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Agenesis of central incisor, Malar fla... OMIM:252100
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Atrophic scars, Squamous cell carcinoma of the skin, Oral mucosal blisters, Scarri... ORPHA:79396
Pachyonychia Congenita 2
Angular cheilitis, Steatocystoma multiplex, Natal tooth, Oral leukoplakia OMIM:167210
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Natal tooth, Oligodontia OMIM:601345
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... ORPHA:1775
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:616353
Rothmund-Thomson Syndrome
Abnormality of the dentition, Neoplasm of the skin, Carious teeth, Basal cell carcinoma, Delayed ... ORPHA:2909
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Cleft lip OMIM:620519
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ... ORPHA:439822
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
W Syndrome
Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen... ORPHA:2804
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Costello Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Papil... ORPHA:3071
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Thin vermili... ORPHA:2701
Lelis Syndrome
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue ORPHA:140936
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morphology, Inguinal herni... ORPHA:1812
Eec Syndrome
Carious teeth, Lymphoma, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodon... ORPHA:1896
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... OMIM:269300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Congenital diaphragmatic hernia, Abnormal palate morphology, Inguin... ORPHA:2063
Immunodeficiency 10
Amelogenesis imperfecta, Kaposi's sarcoma OMIM:612783
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... OMIM:218400
Sanjad-Sakati Syndrome
Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi... ORPHA:2323
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Narrow mouth, Mandi... ORPHA:1110
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Osteoglosphonic Dysplasia
Multiple unerupted teeth, Micrognathia, Inguinal hernia, Tooth agenesis ORPHA:2645
Porphyria, Congenital Erythropoietic
Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring OMIM:263700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Trichodermodysplasia-Dental Alterations Syndrome
Neoplasm of the skin, Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Aden... ORPHA:3353
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Submucous cleft hard palate, Enamel agenesis, Thin u... OMIM:614701
Distal Duplication 18Q
Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, High palate ORPHA:1716
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Retrognathia, Long philtrum, Elbow flexion contracture, Micrognathia, Narrow mouth... OMIM:272430
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth OMIM:612714
Congenital Disorder Of Glycosylation, Type Iim
Open mouth, Exaggerated cupid's bow, Short philtrum, Fused teeth, Enamel hypoplasia, Thick vermil... OMIM:300896
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ... ORPHA:33364
Bent Bone Dysplasia Syndrome 1
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth OMIM:614592
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia OMIM:614856
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum ORPHA:3258
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Inguinal her... OMIM:151050
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Recessive Dystrophic Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79409
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... OMIM:617303
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab... ORPHA:85199
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Treacher-Collins Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zyg... ORPHA:861
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Retrognathia, Downturned corners of mouth, Lobulated tongue, Cleft ... OMIM:620107
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Micrognathia, Carious teeth, Glossoptosis ORPHA:93346
3M Syndrome
Abnormal dental enamel morphology, Long philtrum, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Oculocerebrorenal Syndrome Of Lowe
Neoplasm of the skin, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted ... ORPHA:534
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Scarring alopecia of scalp, Natal tooth, Cleft palate OMIM:617337
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Microdontia, Squamous cell ... OMIM:268400
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Microphthalmia, Renal dysplas... ORPHA:85284
Mmep Syndrome
Microphthalmia ORPHA:3434
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Cockayne Syndrome A
Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red... OMIM:216400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow... OMIM:248370
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Steatocystoma multiplex, Advanced eruption of teeth, Angular cheil... ORPHA:2309
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion, Widely spaced teeth OMIM:614099
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia... ORPHA:96169
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang... ORPHA:293967
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Neoplasm of the skin, Carious teeth, Basal cell carcinoma, Delayed ... ORPHA:221016
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Short ph... ORPHA:1598
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Inguinal hernia, Cleft palate, Enamel hypoplasia OMIM:272460
Oculogastrointestinal Neurodevelopmental Syndrome