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
abnormal eye morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00
small kidney Ambnem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Ambnem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ambnem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Ambnem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

57 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, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Unilateral vestibular Schwannoma, Amelogenesis imperfecta, Carcinoma OMIM:603641
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Carney Complex Variant
Distal arthrogryposis, Cardiac myxoma, Trismus OMIM:608837
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia, Breast carcinoma OMIM:614564
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Exostoses ORPHA:1653
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Taurodontism
Taurodontia OMIM:272700
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
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
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... ORPHA:1946
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
Steatocystoma Multiplex With Natal Teeth
Natal tooth, Steatocystoma multiplex OMIM:184510
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... OMIM:600302
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... ORPHA:3352
Epidermolysis Bullosa, Junctional, Herlitz Type
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Jalili Syndrome
Carious teeth, Amelogenesis imperfecta OMIM:217080
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Localized Junctional Epidermolysis Bullosa
Limb joint contracture, Scarring alopecia of scalp, Enamel hypoplasia, Atypical scarring of skin,... ORPHA:251393
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Dental malocclusion OMIM:616108
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Mandibular prognathia, Enamel hypoplasia, High palate, Malar flattening OMIM:600991
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Increased connective tissue, Enamel hypoplasia, Scarring alopecia of scalp OMIM:226670
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Discolored lateral incisors, Oligodontia, Widely-spaced incisors, Conical mandibular incisor, Joi... OMIM:601668
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, U-Shape... OMIM:234250
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita OMIM:217150
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Carious teeth, Hypodontia, Oral mucosal blisters, Camptodactyly of finger OMIM:226650
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Dental Anomalies And Short Stature
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... OMIM:601216
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Lichtenstein Syndrome
Carious teeth, Enamel hypoplasia, Downturned corners of mouth OMIM:246550
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Usher Syndrome Type 2
Carious teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Irregularly spaced teeth, Enamel hypoplasia ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermil... ORPHA:1515
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... ORPHA:69087
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... ORPHA:166108
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Long philtrum, Thin vermilion border, Narrow ... OMIM:249620
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp OMIM:612843
Mulibrey Nanism
Hypodontia, Hypoplastic frontal sinuses, Microglossia, Absent frontal sinuses, Enamel hypoplasia,... OMIM:253250
Clark-Baraitser syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300602
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... OMIM:265900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Cleft palate, High palate, Hip contracture, Pierre-Robin sequence, A... OMIM:618363
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia OMIM:615502
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
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
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Nanophthalmos 2
Microphthalmia OMIM:609549
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... ORPHA:2325
Enamel-Renal Syndrome
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... ORPHA:1031
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Recurrent m... OMIM:225410
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Abnormality of the philt... ORPHA:2919
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Enamel hypoplasia OMIM:610965
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300431
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Corneodermatoosseous Syndrome
Abnormality of the dentition, Hypomature dental enamel OMIM:122440
Eem Syndrome
Carious teeth, Widely spaced teeth, Microdontia, Selective tooth agenesis, Abnormality of dental ... ORPHA:1897
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... OMIM:265800
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Cleft palate, Open bite, Broad jaw, Abnormal dental ena... ORPHA:10
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79411
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr... OMIM:614669
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microdontia, Oligodontia, Malar flattening, Scarring alopecia of scalp, Conical tooth, Enamel hyp... OMIM:618727
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... OMIM:613684
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Talon cusp, Deep philtrum OMIM:605282
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp ORPHA:59303
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth OMIM:616353
Oculocerebrodental Syndrome
Microdontia, Oligodontia, Enamel hypoplasia, Retrognathia, Abnormality of the dentition ORPHA:557003
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia OMIM:243150
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Scarring, Mandibular prognathia, En... ORPHA:90322
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Cleft palate, High palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... OMIM:170390
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... OMIM:257850
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypodontia, Dens in dente, Mandibular prognathia, Bifid uvula, Enamel hypoplasia, Macrodontia OMIM:263540
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Dental crowding, Open mouth OMIM:600906
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita OMIM:226730
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition ORPHA:3270
Immunodeficiency 10
Kaposi's sarcoma, Amelogenesis imperfecta OMIM:612783
Oslam Syndrome
Carious teeth, Osteosarcoma ORPHA:2760
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Dentinogenesis imperfecta OMIM:604922
Osteogenesis Imperfecta, Type V
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610967
Congenital Disorder Of Glycosylation, Type Iik
Malar flattening, Amelogenesis imperfecta OMIM:614727
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Atrophic scars, Enamel hypoplasia, Narrow mouth, Squamous cell carcinoma, Flexi... OMIM:226600
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia ORPHA:3214
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Nanophthalmos 4
Microphthalmia OMIM:615972
Aredyld Syndrome
Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of t... ORPHA:1133
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color, Basal cell carcinoma, Hemangioma OMIM:163200
Qazi-Markouizos Syndrome
High, narrow palate, Drooling, Open mouth, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Temtamy Preaxial Brachydactyly Syndrome
Hypodontia, Micrognathia, Microdontia, Oligodontia, Talon cusp, Tooth malposition, Abnormality of... ORPHA:363417
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... OMIM:157980
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Hypodontia, Reduced subcutaneous adipose tissue, Flexion contracture OMIM:612079
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth OMIM:613849
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Usher Syndrome
Carious teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microdontia ORPHA:886
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis OMIM:612782
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Microdontia, Wide mouth, Short philtrum, Drooling, Enamel hypoplasia, Exagge... OMIM:619293
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Familial Adenomatous Polyposis 1
Carious teeth, Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Pa... OMIM:175100
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft lip and palate, High palate, Malar flattening, Enamel hypoplasia, Ankyloglossia, ... OMIM:618874
Scarf Syndrome
Hypocalcification of dental enamel, Umbilical hernia, Long philtrum, Hepatocellular adenoma, Enam... ORPHA:3134
Oculotrichodysplasia
Carious teeth, Widely spaced primary teeth, Microdontia of primary teeth, Agenesis of permanent t... OMIM:257960
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Dental maloccl... ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodontia, Enamel hy... OMIM:619184
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Hypodontia, Delayed eruption of teeth ORPHA:1816
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Gombo Syndrome
Microphthalmia OMIM:233270
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Taurodontia, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... ORPHA:2563
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Craniolenticulosutural Dysplasia
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Mucopolysaccharidosis Type 4
Carious teeth, Wide mouth, Abnormal dental enamel morphology, Hernia, Abnormality of the dentitio... ORPHA:582
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Delayed eruption of permanent teeth, Gingival overgrowth, Amel... OMIM:204690
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Pycnodysostosis
Carious teeth, Micrognathia, High palate, Hypodontia, Delayed eruption of permanent teeth, Obtuse... ORPHA:763
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, High palate, Oligodontia, Persistence of primary teeth... ORPHA:37553
Seckel Syndrome 1
Micrognathia, High palate, Cleft palate, Selective tooth agenesis, Enamel hypoplasia, Dental malo... OMIM:210600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, High palate, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Wide mouth, Mandibular prognathia, Grayish enamel, Inguinal h... OMIM:253000
Bone Marrow Failure Syndrome 3
Hypodontia, Micrognathia, Microdontia, Hernia, Amelogenesis imperfecta, Acute myeloid leukemia, E... OMIM:617052
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Wide mouth, Mandibular prognathia, Grayish enamel, Inguinal h... OMIM:253010
Lowry-Maclean Syndrome
High, narrow palate, Micrognathia, Cleft palate, Talon cusp, Congenital diaphragmatic hernia, Dow... ORPHA:2409
Specific Granule Deficiency 2
Tooth malposition, Myelodysplasia, Amelogenesis imperfecta, Conical tooth OMIM:617475
Gardner Syndrome
Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, P... ORPHA:79665
Hypophosphatasia, Adult
Carious teeth, Premature loss of primary teeth, Chondrocalcinosis, Premature loss of permanent teeth OMIM:146300
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Glossoptosis, Anter... OMIM:602483
Hall-Riggs Syndrome
Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturned corners of m... ORPHA:2107
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Acrofacial Dysostosis, Weyers Type
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... ORPHA:952
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Bilateral cleft lip and palate, Conical tooth ORPHA:1997
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Kohlschutter-Tonz Syndrome-Like
Widely spaced teeth, Carious teeth, Smooth philtrum, Drooling, Amelogenesis imperfecta, Delayed e... OMIM:619229
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion OMIM:144750
Trisomy 4P
Carious teeth, Abnormal palate morphology, Smooth philtrum, Camptodactyly of finger, Abnormality ... ORPHA:1738
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Malar fl... OMIM:259775
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Familial Adenomatous Polyposis
Astrocytoma, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal cementum morphology, Adeno... ORPHA:733
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Short philtrum, Mandibular prognathia, Malar ... ORPHA:364028
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Camptodactyly ... ORPHA:2863
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Papillary thyroid carcinoma, Multiple gastric polyps,... ORPHA:247806
Orofacial Cleft 15
Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip, Palate fistula OMIM:616788
Tuberous Sclerosis 1
Subungual fibromas, Shagreen patch, Cardiac rhabdomyoma, Astrocytoma, Ependymoma, Gingival fibrom... OMIM:191100
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Selective too... OMIM:164200
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... ORPHA:2751
Kilquist Syndrome
Xerostomia, Hypoplasia of teeth, Wide mouth, Mandibular prognathia OMIM:619080
Temtamy Syndrome
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum OMIM:218340
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... ORPHA:1798
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Hypoplasia of teeth, Cleft palate, Microdontia ORPHA:2728
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Micrognathia, High palate, Loss of subcutaneous adipose tis... OMIM:608612
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormal palate morphology, Malar flattening, Retrognathia ORPHA:1390
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Abnormality of primary teeth, Thin upper lip vermilion, ... ORPHA:438216
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Supernumerary tooth, Microdontia, Oligodontia OMIM:191482
Smith-Magenis Syndrome
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Tented upper ... ORPHA:819
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Carious teeth, Neoplasm of the skin, Hypodontia, Neoplasm of the lung, Abnormality of the gingiva... ORPHA:659
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Narrow palate, Thick lower lip vermilion, Narrow mouth ORPHA:457365
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Orofaciodigital Syndrome I
Carious teeth, High palate, Cleft palate, Alveolar ridge overgrowth, Hypothalamic hamartoma, Tong... OMIM:311200
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth ORPHA:181393
48,Xxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96263
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Microphthalmia ORPHA:195
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Mandibuloacral Dysplasia
Micrognathia, High palate, Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic ad... ORPHA:2457
Short Syndrome
Microdontia, Lipodystrophy, Malar flattening, Abnormal dental enamel morphology, Inguinal hernia,... ORPHA:3163
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Mandibular prognathia, Abnormal dental enamel morphology, Vaginal herni... ORPHA:2916
Isolated Cleft Lip
Hypodontia, Supernumerary maxillary incisor, Velopharyngeal insufficiency, Non-midline cleft lip,... ORPHA:199302
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Thick lower lip vermilion, Micrognathia, Clef... OMIM:154780
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Widely spaced primary teeth, Hypoplasia of the pri... ORPHA:90321
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta, Neoplasm ORPHA:169090
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele, Delayed eruption of teeth OMIM:614450
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Faciothoracogenital Syndrome
Microphthalmia, Glandular hypospadias OMIM:227320
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Impaired mastication ORPHA:466722
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Bilateral cleft lip and palate, Hypodontia, Micrognathia, Cleft upper lip, Hypopla... ORPHA:3253
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
49,Xxxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96264
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Schimke Immuno-Osseous Dysplasia
Hypodontia, Abnormality of primary molar morphology, Microdontia, Lymphoproliferative disorder, N... ORPHA:1830
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Umbilical hernia, Long philtrum OMIM:312830
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mandibular prognathia, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Den... OMIM:603463
Porphyria, Congenital Erythropoietic
Corneal scarring, Joint contracture of the hand, Abnormality of the mouth, Erythrodontia, Atypica... OMIM:263700
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Shagreen patch, Micrognathia, Abnormal palate morphology, Open bite, Lipoatrophy ORPHA:2617
Cole-Carpenter Syndrome 2
High palate, Microretrognathia, Dentinogenesis imperfecta OMIM:616294
Corneodermatoosseous Syndrome
Carious teeth, Gingivitis, Abnormal dental enamel morphology ORPHA:3194
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Enamel hypoplasia, Abnormality of the dentition, Wide mouth OMIM:615802
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short philtrum, Oligodontia, Long philtrum, Dorsocervical fat pad, Downturned corne... ORPHA:391408
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger ORPHA:1883
Nanophthalmos
Microphthalmia ORPHA:35612
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2050
Pallister W Syndrome
Agenesis of central incisor, Joint contracture of the hand, Broad uvula, Camptodactyly, Agenesis ... OMIM:311450
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... ORPHA:444072
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Micrognathia, High palate, Loss of subcutaneous adipose tissue i... OMIM:248370
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Smooth philtrum, Oligodontia, Malar flattening, Joint contracture of the hand, D... OMIM:235510
Pachyonychia Congenita 2
Natal tooth, Steatocystoma multiplex OMIM:167210
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Malar flattening, Joint contracture of the hand, Dental malocclusion, Camptodactyly OMIM:608257
Laron Syndrome
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth ORPHA:633
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Narrow palate, Dental ... OMIM:264475
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Frank-Ter Haar Syndrome
Premature loss of teeth, Wide mouth, Short philtrum, Mandibular prognathia, Gingival overgrowth, ... ORPHA:137834
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypodontia, Everted upper lip vermilion, Microdontia, Conical tooth, Abnormal oral mucosa morphol... OMIM:305100
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Arthrogryposis And Ectodermal Dysplasia
Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Joint contracture ... OMIM:601701
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Lymphoma, Recurrent aphthous stomatitis, Stomatitis OMIM:212750
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Micrognathia, Cleft palate, High, narrow palate, Open bite, Mandibular ... ORPHA:1452
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... OMIM:616367
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Hypodontia, Oligodontia OMIM:601345
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth OMIM:619356
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Conical incisor, Micrognathia, Long philtrum, Maxillary lateral incisor microdontia, Thin vermili... ORPHA:73223
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum OMIM:617337
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Cleft palate, Facial capillary hemangioma, Pierre-Robin sequence, Ol... ORPHA:364577
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Premature loss of teeth, Periodontitis, Dentinogenesis imper... OMIM:619269
Oculodentodigital Dysplasia
Carious teeth, Micrognathia, Cleft palate, Mandibular prognathia, Median cleft lip, Abnormal dent... ORPHA:2710
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnorma... ORPHA:2547
Rothmund-Thomson Syndrome
Carious teeth, Neoplasm of the skin, Myelodysplasia, Microdontia, Leukemia, Supernumerary tooth, ... ORPHA:2909
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth OMIM:126550
Ellis Van Creveld Syndrome
Conical incisor, Hypodontia, Microdontia, Acute leukemia, Thin vermilion border, Delayed eruption... ORPHA:289
Eec Syndrome
Carious teeth, Cleft palate, Microdontia, Xerostomia, Abnormal dental enamel morphology, Lymphoma... ORPHA:1896
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Keloids, Atrophic scars, Atypical scarring of skin, Oral mucosal blisters ORPHA:79410
Cherubism
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Multiple impacted teeth, Den... OMIM:118400
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Mohr Syndrome
Micrognathia, Cleft palate, High palate, Agenesis of central incisor, Tongue nodules, Accessory o... OMIM:252100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Atrophic scars, Squamous cell carcinoma of the skin, Enamel hypoplasia, Smooth tongue, ... ORPHA:79396
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Microdontia, Retrognathia OMIM:210720
Pde4D Haploinsufficiency Syndrome
Micrognathia, Short philtrum, Long philtrum, Mandibular prognathia, Malar flattening, Abnormal de... ORPHA:439822
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Microdontia, Mandibular prognathia, Malar flattening, Absent paranasa... OMIM:269300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Micrognathia, Cleft palate, Hypodontia, Abnormal dental enamel morphology, D... ORPHA:1071
Mental Retardation, Buenos Aires Type
Carious teeth, High palate, Wide mouth, Mandibular prognathia, Thin upper lip vermilion, Dental m... OMIM:249630
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... ORPHA:884
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Sanjad-Sakati Syndrome
Micrognathia, Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormalit... ORPHA:2323
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Delayed eruption of teeth, Oligodontia OMIM:614381
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Congenital diaphragmatic he... ORPHA:2063
Seckel Syndrome
Tooth agenesis, Micrognathia, Abnormal dental enamel morphology ORPHA:808
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Thin vermilion border, Deep... ORPHA:2701
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue OMIM:258850
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Osteoglosphonic Dysplasia
Micrognathia, Tooth agenesis, Inguinal hernia, Multiple unerupted teeth ORPHA:2645
Lelis Syndrome
Carious teeth, Hypodontia, Mandibular prognathia, Furrowed tongue, Abnormality of the mouth ORPHA:140936
W Syndrome
Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxillary central incisor, Submucous cleft... ORPHA:2804
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Osteogenesis Imperfecta, Type X
Micrognathia, Malar flattening, Inguinal hernia, Dentinogenesis imperfecta OMIM:613848
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology, Abnormality of the mouth ORPHA:1334
Immunodeficiency 49
Natal tooth, Micrognathia, Short philtrum, Umbilical hernia OMIM:617237
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion OMIM:613680
Costello Syndrome
Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Narrow palate, Papill... ORPHA:3071
Trichodermodysplasia-Dental Alterations Syndrome
Neoplasm of the skin, Adenoma sebaceum, Supernumerary tooth, Delayed eruption of teeth, Abnormali... ORPHA:3353
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Mandibular prognathia, Hypoplasia of the zygomatic bone, Downturned corners of mou... ORPHA:1110
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Mandibular prognathia, Enamel hypoplasia, Exaggerated cupid's bow, O... OMIM:300896
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... OMIM:607812
Distal Trisomy 18Q
Carious teeth, Micrognathia, High palate, Abnormality of dental morphology, Camptodactyly of finger ORPHA:1716
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Micrognathia, High palate, Long philtrum, Narrow mouth, Retrognathia, Camptodactyl... OMIM:272430
Premature Aging Syndrome, Penttinen Type
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Lipoatrophy, Hypoplasia of the ma... OMIM:601812
Trichothiodystrophy
Carious teeth, High, narrow palate, Absence of subcutaneous fat, Enamel hypoplasia, Squamous cell... ORPHA:33364
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Microdontia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, R... ORPHA:1812
Malan Syndrome
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth OMIM:614753
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... OMIM:614701
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Persistence of primary teeth, Mandibular osteomyelitis, Mandibular prognathia OMIM:259710
Auriculocondylar Syndrome
Mandibular condyle aplasia, Micrognathia, Cleft palate, Dental crowding, Hamartoma of tongue, Mic... ORPHA:137888
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... OMIM:120330
Dyskeratosis Congenita
Carious teeth, Hypodontia, Neoplasm of the pancreas, Neoplasm, Lymphoma, Periodontitis, Abnormali... ORPHA:1775
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unilateral microph... ORPHA:137902
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria OMIM:619053
Codas Syndrome
Omphalocele, Enamel hypoplasia, Delayed eruption of teeth OMIM:600373
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Widely spaced teeth, Everted lower lip vermilion OMIM:614099
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Mmep Syndrome
Microphthalmia ORPHA:3434
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney ORPHA:251004
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cenani-Lenz Syndrome
High, narrow palate, Hypodontia, Short philtrum, Malar flattening, Abnormal dental enamel morphology ORPHA:3258
Treacher-Collins Syndrome
Micrognathia, Cleft palate, High palate, Wide mouth, Open bite, Cleft upper lip, Branchial fistul... ORPHA:861
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Microdontia, Mandibular prognathia, Supernumerary tooth, Basal cell ca... OMIM:268400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Wide mouth, Malar flattening, Abnormal de... ORPHA:85199
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79409
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Meckel Syndrome, Type 8
Anophthalmia, Hyperechogenic kidneys, Microphthalmia OMIM:613885
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... ORPHA:1327
Char Syndrome
Short philtrum, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Persistenc... ORPHA:46627
Branchioskeletogenital Syndrome
Carious teeth, Premature loss of teeth, Short philtrum, Mandibular prognathia, Submucous cleft ha... ORPHA:1299
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Bresek Syndrome
Renal hypoplasia, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia, Hypoplasia of the blad... ORPHA:85284
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Advanced eruption of teeth OMIM:262190
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Retrognathia, Dental malocclusion OMIM:601552
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Gorlin Syndrome
Carious teeth, Neoplasm, Mandibular prognathia ORPHA:377
Chand Syndrome
Cleft palate, Bifid tongue, Abnormal oral frenulum morphology, Commissural lip pit, Agenesis of p... ORPHA:1401
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency... OMIM:208540
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Neoplasm of the skin, Abnormal dental enamel morphology, Del... ORPHA:534
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Rothmund-Thomson Syndrome Type 2
Carious teeth, Neoplasm of the skin, Cleft palate, High palate, Microdontia, Myelodysplasia, Leuk... ORPHA:221016
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption of teeth, Long p... ORPHA:2616
Cranioectodermal Dysplasia 1
Widely spaced teeth, High, narrow palate, Hypodontia, High palate, Microdontia, Enamel hypoplasia... OMIM:218330
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Glossoptosis ORPHA:93346
Monosomy 18P
Carious teeth, Micrognathia, Cleft palate, Hypodontia, Short philtrum, Tooth malposition, Downtur... ORPHA:1598
Rothmund-Thomson Syndrome Type 1
Carious teeth, Neoplasm of the skin, Myelodysplasia, Microdontia, Leukemia, Basal cell carcinoma,... ORPHA:221008
Osteogenesis Imperfecta
Carious teeth, Micrognathia, Abnormality of dental color, Visceral angiomatosis, Abnormal dental ... ORPHA:666
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome