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
hydrometra Enamem1(IMPC)Tcp HOM Early adult 0.00
enlarged heart Enamem1(IMPC)Tcp HOM Early adult 0.00
abnormal heart morphology Enamem1(IMPC)Tcp HOM Early adult 0.00
small superior vagus ganglion 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
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia 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
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Steatocystoma Multiplex
Natal tooth OMIM:184500
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Taurodontism
Taurodontia OMIM:272700
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79405
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Atrophic scars OMIM:226700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
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
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality... ORPHA:952
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... OMIM:234250
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Pyle Disease
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... OMIM:265900
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
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, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum ORPHA:99329
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... OMIM:618363
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Jalili Syndrome
Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis OMIM:217080
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Catifa Syndrome
Inguinal hernia, Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly,... OMIM:618761
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Aredyld Syndrome
Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho... ORPHA:1133
Ramon Syndrome
Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth, Gingival fibromatosis ORPHA:3019
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Oligodontia, Natal tooth OMIM:601345
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... OMIM:272440
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia OMIM:610706
Seckel Syndrome 5
Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia... OMIM:613823
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... ORPHA:1515
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, Thin upper lip vermilion, ... OMIM:619719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... OMIM:614753
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Malar flattening, Hypodontia, Premature loss of permanent teeth OMIM:212780
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Intellectual Disability, Birk-Barel Type
High, narrow palate, Short philtrum, Foot joint contracture, Incisor macrodontia, Congenital fing... ORPHA:166108
Ethanolaminosis
Cardiomegaly OMIM:227150
Nance-Horan Syndrome
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar OMIM:302350
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum OMIM:615502
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... OMIM:613684
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth ORPHA:181
Bent Bone Dysplasia Syndrome 1
Gingival overgrowth, Micrognathia, Natal tooth, Malar flattening OMIM:614592
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Cleft palate, Natal tooth, Short philtrum, Scarring alopecia of scalp OMIM:617337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Widely spaced teeth OMIM:620193
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Mulibrey Nanism
Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo... OMIM:253250
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... ORPHA:69087
Pachyonychia Congenita 2
Natal tooth, Angular cheilitis, Oral leukoplakia OMIM:167210
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp ORPHA:59303
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Craniometadiaphyseal Dysplasia
Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Natal tooth, Mal... OMIM:269300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth OMIM:620114
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Cleft palate, Pierre-Robin sequenc... OMIM:619980
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis, Elevated circulating alk... OMIM:615198
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79411
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Taurodontia OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Scarring alopecia of scalp, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth... OMIM:618727
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Wide mouth, Thick vermilion border OMIM:618506
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth... ORPHA:2863
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth OMIM:616901
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia ORPHA:557003
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum OMIM:605282
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Carious teeth, Multicystic kidney dysplasia, Abnormality of the denti... ORPHA:3270
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Eem Syndrome
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... ORPHA:1897
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Inguinal hernia, Delayed eruption of teeth, Abnormal dental... ORPHA:10
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cleft palate, T... OMIM:619736
Cockayne Syndrome Type 2
Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont... ORPHA:90322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downturned corners ... OMIM:617865
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth OMIM:614381
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Malar... OMIM:618874
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Increased adipose tissue, Lipodystrophy, Odontogenic kerat... ORPHA:199276
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hypoplasia of teeth, Accessory oral frenulum, Flexion contracture, Camptodactyly ORPHA:88630
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Micrognathia, Natal tooth OMIM:617802
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta OMIM:613849
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco... OMIM:226600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum OMIM:618825
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Immunodeficiency 49
Micrognathia, Natal tooth, Short philtrum, Umbilical hernia OMIM:617237
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum... OMIM:157980
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor... ORPHA:2169
Trichothiodystrophy 3, Photosensitive
Eclabion, Carious teeth, Natal tooth OMIM:616395
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Increased mean corpuscular volume, Le... ORPHA:232
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Inguinal hernia, Premature loss of teeth, Gingival ove... ORPHA:137834
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed eruption of permanent teeth OMIM:619356
Teebi Hypertelorism Syndrome 1
Dental crowding, Omphalocele, Micrognathia, Natal tooth, Long philtrum, Thin upper lip vermilion OMIM:145420
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Laron Syndrome
Micrognathia, Delayed eruption of teeth, Microdontia, Tooth agenesis ORPHA:633
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Advanced eruption of teeth, Loss of subcutaneous adipose tissue in limbs, Lipodystro... ORPHA:2348
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl... OMIM:129400
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Increased mean corpuscular hemoglobin concentration, Increased mea... OMIM:616689
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thromb... OMIM:617021
Kleefstra Syndrome 1
Mandibular prognathia, Everted lower lip vermilion, Persistence of primary teeth, Protruding tong... OMIM:610253
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transamina... OMIM:607765
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Elevated circulating hepatic transaminase ... ORPHA:98870
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Smoo... OMIM:249620
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermi... OMIM:619184
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod... OMIM:618067
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Dental malocclusion OMIM:618292
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn... ORPHA:884
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth OMIM:619797
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Scarf Syndrome
Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Hypocalcification of dental ... ORPHA:3134
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of the dentition... ORPHA:363417
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening ORPHA:2180
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... OMIM:265800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... OMIM:170390
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid... OMIM:619293
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E... OMIM:618342
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... OMIM:257850
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Malar flattening OMIM:616108
Kleefstra Syndrome Due To A Point Mutation
Thick lower lip vermilion, Inguinal hernia, Abnormality of the dentition, Natal tooth, Umbilical ... ORPHA:261652
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cleft palate, Natal tooth ORPHA:158687
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, Enamel hypopla... OMIM:210600
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upper lip, Natal tooth, Hypo... OMIM:225500
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Low alkaline phosph... OMIM:146300
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog... OMIM:620366
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Pycnodysostosis
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... ORPHA:763
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Craniosynostosis 3
Dental malocclusion OMIM:615314
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Cranioectodermal Dysplasia 4
Thin vermilion border, Smooth philtrum, Taurodontia OMIM:614378
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology OMIM:163200
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Acrocraniofacial Dysostosis
Micrognathia, Advanced eruption of teeth, Cleft palate, Short philtrum ORPHA:949
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Craniometaphyseal Dysplasia, Autosomal Recessive
Delayed eruption of permanent teeth, Broad alveolar ridges, Mandibular prognathia, Facial hyperos... OMIM:218400
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, W... ORPHA:582
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Oslam Syndrome
Carious teeth ORPHA:2760
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o... ORPHA:2980
Cole-Carpenter Syndrome 1
Micrognathia, Dentinogenesis imperfecta, Microdontia OMIM:112240
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... ORPHA:192
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, High palate, Cleft palate, Wide mouth, Thick vermi... OMIM:614608
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft palate, Carious teeth, Conical tooth ORPHA:1997
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Inguinal hernia, Broad alveolar ridges, Exaggerated cupid's bow, Narr... ORPHA:2215
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B... OMIM:616354
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Carious teeth, Delayed eruption of teeth OMIM:277440
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475
48,Xxxy Syndrome
Inguinal hernia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognat... ORPHA:96263
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Premature loss of teeth, Short philtrum OMIM:156510
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Inguinal hernia, Delayed eruption of teeth, High palat... OMIM:614607
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Smo... ORPHA:2563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corp... OMIM:611590
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... ORPHA:438216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Familial Expansile Osteolysis
Fragile teeth, Premature loss of teeth, Osteolysis, Pathologic fracture, Elevated circulating alk... OMIM:174810
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth, High ... OMIM:619148
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Increased circul... OMIM:613839
Temtamy Syndrome
Long philtrum, Dental crowding, Micrognathia, Hypoplasia of teeth OMIM:218340
Osteoglosphonic Dysplasia
Tooth agenesis, Micrognathia, Inguinal hernia, Multiple unerupted teeth ORPHA:2645
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... ORPHA:98850
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, High palate, Cigarette-paper scars, Camptodactyly of finger, Bifid uvu... OMIM:612350
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... OMIM:150400
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... OMIM:239100
Trisomy 4P
Abnormal palate morphology, Abnormality of the dentition, Camptodactyly of finger, Carious teeth,... ORPHA:1738
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Cleft palate, Microdontia, Widely spaced teeth ORPHA:2728
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Fgfr2-Related Bent Bone Dysplasia
Gingival overgrowth, Micrognathia, Natal tooth ORPHA:313855
Dysosteosclerosis
Delayed eruption of teeth, Absent frontal sinuses, Premature loss of teeth, Oligodontia, High pal... OMIM:224300
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Gingival overgrowth, High palate, Everted... ORPHA:420561
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... OMIM:118400
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... ORPHA:199302
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Aarskog-Scott Syndrome
Orofacial cleft, Inguinal hernia, Delayed eruption of teeth, Abnormality of the dentition, Everte... ORPHA:915
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Delayed eruption of teeth, Elbow flexion contracture, Camptodactyly, Cario... OMIM:214150
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Congenital diaphragmatic hernia, Inguinal hernia, Toot... ORPHA:2063
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Cereb... OMIM:176920
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Orofacial Cleft 15
Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c... OMIM:616788
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Raine Syndrome
Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, Protruding to... OMIM:259775
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum ORPHA:93945
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Glycogen Storage Disease Vi
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Fa... OMIM:232700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
49,Xxxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, C... ORPHA:96264
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand OMIM:113000
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persistence of hemoglobin F... OMIM:612561
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p... ORPHA:1248
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... ORPHA:364028
Kabuki Syndrome 2
High palate, Micrognathia, Cleft palate, Natal tooth, Hypodontia, Lower lip pit, Dental malocclusion OMIM:300867
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone min... OMIM:259700
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Codas Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro... OMIM:620250
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Inguinal hernia, Talon cusp, ... ORPHA:2409
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hypochromia, Elevated ... OMIM:616860
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti... ORPHA:2916
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani... OMIM:122860
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant ce... ORPHA:79303
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Carious teeth, Abnormal palate morphology, Malar flattening ORPHA:1390
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Carious teeth, Hypodontia, Limb joint contracture OMIM:612079
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion OMIM:608931
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... ORPHA:2712
Xfe Progeroid Syndrome
Enamel hypoplasia, Premature loss of teeth, Corneal scarring, Absence of subcutaneous fat OMIM:610965
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Cohen Syndrome
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... OMIM:216550
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Kleefstra Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Mandibular prognathia, Exaggerated cupid's... ORPHA:261494
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Carious teeth, Thick lower lip vermilion, Narrow mouth ORPHA:457365
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277410
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Char Syndrome
Short philtrum, Triangular mouth, Everted lower lip vermilion, Persistence of primary teeth, Mala... ORPHA:46627
Mandibuloacral Dysplasia
Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ... ORPHA:2457
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Mandibular prognathia, High palate, Failure to thrive, Micr... OMIM:610883
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the maxilla OMIM:618737
Mucopolysaccharidosis, Type Iva
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253000
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Open bite, High palate, Narrow mouth, Camptodactyly of finger, Downturned ... ORPHA:1327
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, High, narrow palate, Mandibular prognathia, High palat... OMIM:117550
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Premature loss of teeth, Selective to... OMIM:164200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal... ORPHA:3253
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Inguinal hernia, Necrotizing enterocolitis, Elbow flexion contracture, Elevated circu... OMIM:616809
Hamamy Syndrome
Inguinal hernia, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Microgn... OMIM:611174
Short Syndrome
Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali... ORPHA:3163
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Inguinal hernia, Umbilical hernia OMIM:312830
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati... OMIM:619229
Smith-Magenis Syndrome
Short philtrum, Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Tented upper ... ORPHA:819
Cockayne Syndrome Type 1
Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma... ORPHA:90321
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Three M Syndrome 2
Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening, Long philtrum, ... OMIM:612921
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Weight loss, Pathologic fracture, Elev... ORPHA:668
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Elevated circulating alkaline phosphatase concentration, Thin upper lip vermilio... OMIM:618879
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Hypophosphatemia, Osteomalacia, ... OMIM:193100
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Overhydrated Hereditary Stomatocytosis
Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Prolonged neona... OMIM:185000
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr... OMIM:609628
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Beta-Thalassemia Intermedia
Osteopenia, Decreased liver function, Reduced bone mineral density, Jaundice, Abnormality of iron... ORPHA:231222
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor ORPHA:466722
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Inguinal hernia, Dental crowding, Agenesis of maxillary incisor, High ... OMIM:620545
Chst3-Related Skeletal Dysplasia
Long philtrum, Flexion contracture, Delayed eruption of teeth ORPHA:263463
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Advanced eruption of teeth, Loss of subcutaneous adipose tissue in limbs, Increased ... ORPHA:280365
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Oligodontia, Delayed eruption of teeth ORPHA:447896
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Delayed eruption... OMIM:619269
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Dental crowding, Hiatus hernia, Persistence of primary teeth OMIM:619769
Acrofacial Dysostosis, Catania Type
Carious teeth, Micrognathia, Cleft palate, Malar flattening OMIM:101805
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar... OMIM:600081
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Osteoporosis, Neut... OMIM:612562
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Increased serum bile acid concentration, Elevated circulating ala... OMIM:619868
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Supernumerary tooth, Abnormal dental morphology, Delayed eruption of teeth ORPHA:3353
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, M... OMIM:266510
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... OMIM:608612
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology OMIM:300831
Refractory Celiac Disease
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... ORPHA:398063
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger ORPHA:1883
Mcdonough Syndrome
Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Micrognathia, Denta... ORPHA:2471
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253010
Orofaciodigital Syndrome I
Supernumerary tooth, Polycystic kidney dysplasia, High palate, Ankyloglossia, Agenesis of permane... OMIM:311200
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Accessory oral frenulum, Diastema OMIM:619142
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pursed lips OMIM:241310
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Failure... ORPHA:71
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Incomplete cleft of the upper lip, Hypoplastic facial bones, Lobulated tongue, Cleft... OMIM:616300
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula, Natal tooth, Malar fl... OMIM:123790
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated alkaline phosphatase of bone origin, Hypocalcemic seizures, Delayed epiphyseal ... ORPHA:289157
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Trisomy 9P
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth ORPHA:236
Lacrimoauriculodentodigital Syndrome 2
Hypodontia, Carious teeth, Microdontia, Conical tooth OMIM:620192
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Arthrogryposis And Ectodermal Dysplasia
Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ... OMIM:601701
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Combined Immunodeficiency Due To Crac Channel Dysfunction