Gene Summary

Name:
enamelin
Synonyms:
abte

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
small superior vagus ganglion Enamem1(IMPC)Tcp HOM Early adult 0.00
hydrometra Enamem1(IMPC)Tcp HOM Early adult 0.00
abnormal heart morphology Enamem1(IMPC)Tcp HOM Early adult 0.00
enlarged heart Enamem1(IMPC)Tcp HOM Early adult 0.00

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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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Enam 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 Enam by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate OMIM:217150
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Taurodontism
Taurodontia OMIM:272700
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79402
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79405
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue OMIM:226670
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Hall-Riggs Syndrome
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... OMIM:234250
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia ORPHA:79406
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
48,Xyyy Syndrome
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia ORPHA:99329
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... OMIM:618363
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79411
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... OMIM:618761
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... ORPHA:1133
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lactate dehydrogenase con... ORPHA:232
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate ORPHA:3019
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding OMIM:606893
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia OMIM:612843
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... ORPHA:1515
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... OMIM:613823
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... ORPHA:166108
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia, Shagreen patch ORPHA:1816
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Filippi Syndrome
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors OMIM:272440
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia OMIM:212780
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Ethanolaminosis
Cardiomegaly OMIM:227150
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Rubinstein-Taybi Syndrome 2
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... OMIM:613684
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate OMIM:617337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, High palate OMIM:262190
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... OMIM:253250
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... OMIM:269300
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology ORPHA:59303
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Failure ... OMIM:615198
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... ORPHA:2919
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T... OMIM:619980
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79409
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow OMIM:618506
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... ORPHA:2863
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia OMIM:616901
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... ORPHA:79410
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia OMIM:618205
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Oculoskeletodental Syndrome
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia ORPHA:557003
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... ORPHA:3270
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Eem Syndrome
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... ORPHA:1897
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... ORPHA:10
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... OMIM:617865
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia OMIM:614381
Cockayne Syndrome Type 2
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... ORPHA:90322
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Congenital Disorder Of Glycosylation, Type Iik
Malar flattening, Amelogenesis imperfecta OMIM:614727
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas... ORPHA:199276
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... OMIM:618874
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia OMIM:617802
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth ORPHA:88630
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... OMIM:226600
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Immunodeficiency 49
Natal tooth, Umbilical hernia, Short philtrum, Micrognathia OMIM:617237
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Eclabion OMIM:616395
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er... ORPHA:2348
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth OMIM:619356
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubin... OMIM:607765
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum OMIM:145420
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... ORPHA:137834
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... OMIM:129400
Laron Syndrome
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia ORPHA:633
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increased mean corpusc... OMIM:616689
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia... OMIM:610253
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:3220
Ohdo Syndrome
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... OMIM:249620
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Dental malocclusion OMIM:618292
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... OMIM:618067
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo... OMIM:619184
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth OMIM:619797
Immunodeficiency 9
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology ORPHA:1782
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Absent leukocyte alkaline phosphatase OMIM:242880
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Scarf Syndrome
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology ORPHA:2180
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... OMIM:619293
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... OMIM:618342
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... OMIM:225500
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... OMIM:210600
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Cleft palate ORPHA:158687
Craniosynostosis 3
Dental malocclusion OMIM:615314
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
4H Leukodystrophy
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition ORPHA:289494
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia ORPHA:949
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ... ORPHA:261652
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Oslam Syndrome
Carious teeth ORPHA:2760
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... OMIM:616354
Acrootoocular Syndrome
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... ORPHA:2980
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... ORPHA:192
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Enamel hypoplasia OMIM:607626
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Cranioectodermal Dysplasia 4
Thin vermilion border, Smooth philtrum, Taurodontia OMIM:614378
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... OMIM:614608
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandibl... ORPHA:2215
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Bilateral cleft lip and palate, Conical tooth ORPHA:1997
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:96263
Familial Expansile Osteolysis
Osteolysis, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Prematu... OMIM:174810
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color OMIM:163200
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth OMIM:277440
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Conical tooth OMIM:617475
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... ORPHA:329475
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... OMIM:619148
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Inguinal hernia, Thick lower lip vermilion, Cleft palate, Wide mouth, ... OMIM:614607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... ORPHA:438216
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Increased circul... OMIM:613839
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... OMIM:224300
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... ORPHA:2563
Osteoglosphonic Dysplasia
Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia ORPHA:2645
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Camptodactyly OMIM:246560
Cole-Carpenter Syndrome 1
Microdontia, Dentinogenesis imperfecta, Micrognathia OMIM:112240
Temtamy Syndrome
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia OMIM:218340
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H... OMIM:612350
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Kilquist Syndrome
Mandibular prognathia, Wide mouth, Hypoplasia of teeth OMIM:619080
Trisomy 4P
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Abnormal p... ORPHA:1738
Cherubism
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... OMIM:118400
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema OMIM:619718
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition OMIM:615802
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro... ORPHA:2063
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... ORPHA:915
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Elbow flexion contra... OMIM:214150
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Osteomyelitis, Increased circulating lactate dehydr... OMIM:259700
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... OMIM:122860
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia... OMIM:232700
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Lowry-Maclean Syndrome
Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... ORPHA:2409
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia OMIM:300867
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... OMIM:259775
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Brachydactyly, Type B1
Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly OMIM:113000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Exo... OMIM:617052
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... OMIM:620250
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1458
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... OMIM:612561
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h... OMIM:176920
Corneodermatoosseous Syndrome
Carious teeth, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... ORPHA:2916
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion OMIM:608931
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia OMIM:612079
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... OMIM:216550
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology ORPHA:1390
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... ORPHA:811
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth ORPHA:457365
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Small for gestational age, Micrognathia, Dental malocclus... OMIM:610883
Xfe Progeroid Syndrome
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring OMIM:610965
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup... OMIM:117550
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the dentition, Rickets, Elevated circulating alkaline phosphatase co... OMIM:193100
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ... OMIM:277410
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hamamy Syndrome
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... OMIM:611174
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Scarf Syndrome
Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum OMIM:312830
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... ORPHA:1327
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... OMIM:609628
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Inguinal hernia, Necrotizing enterocolitis, Elevated circulating cre... OMIM:616809
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... ORPHA:819
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Malar flattening, Fa... OMIM:266510
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Short Syndrome
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:3163
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... ORPHA:90321
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... ORPHA:3253
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increased mean corpusc... OMIM:185000
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Diarrhea, Steatorrhea, Vomit... ORPHA:71
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... ORPHA:280365
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors OMIM:618737
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... OMIM:619229
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Flexion contracture, Long philtrum ORPHA:263463
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Dental crowding, Persistence of primary teeth OMIM:619769
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... OMIM:253000
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia ORPHA:447896
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:600081
Ck Syndrome
Abnormal cortical bone morphology, Slender build, Joint hypermobility OMIM:300831
Odontochondrodysplasia 1
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum OMIM:184260
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... OMIM:619868
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Esophagitis, Neut... OMIM:612562
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600785
Mcdonough Syndrome
Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal... ORPHA:2471
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger ORPHA:1883
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia OMIM:243150
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis, Jaundice, Elevated ci... OMIM:235555
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... OMIM:619269
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr... ORPHA:89937
Seckel Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia ORPHA:808
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Cleft lip, Hypoplastic facial b... OMIM:616300
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancrea... OMIM:311200
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif... OMIM:123790
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Rabson-Mendenhall Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... ORPHA:769
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... OMIM:601701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase