Gene Summary

Name:
forkhead box N3
Synonyms:
5430426H20Rik,  Ches1,  Ches1l,  HTLFL1

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
decreased prepulse inhibition Foxn3em1(IMPC)Bay HET   Early adult 6.77×10-07
preweaning lethality, complete penetrance Foxn3em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

MicroCT E18.5

Embryo reconstruction

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Foxn3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glossoptosi... OMIM:614669
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Kyphoscoliosis, Macrocephaly, Malar flattening, Clef... OMIM:608545
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia, Int... OMIM:616570
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Intestinal malrotati... OMIM:613684
Mcdonough Syndrome
Dental malocclusion, Kyphosis, Open bite, Short stature, Micrognathia, Short philtrum, Cachexia, ... ORPHA:2471
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Cerebral atrophy, Everted lower l... OMIM:600302
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening, Short stature OMIM:616108
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Relative macrocephaly, Mandibular prognathia, Mild short stature OMIM:618292
Craniosynostosis 3
Dental malocclusion, Partial agenesis of the corpus callosum, Sagittal craniosynostosis, Left uni... OMIM:615314
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Kyphosis, Macrocephaly, Macroglossia, Op... ORPHA:61
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Failure to thrive, Wide mouth, Small for gestational age, Short... OMIM:610883
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Kyphosis, Short stature, Abnormality of the dentition, Scoliosis, Mandibular... ORPHA:1858
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Microcephaly, Short stature OMIM:615541
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Failure to thrive, Wide mouth, Microcephaly, Carious teeth, Par... OMIM:249630
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Scoliosis, Limited elbow extension, Incisor macrodonti... OMIM:619719
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Irregular vertebral endplates, Kyphoscoliosis, Joint contractur... OMIM:612350
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Median cleft palate, Microphthalmia OMIM:248110
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Short stature, Retrognathia, Microcephaly, Microphthalmia, Growth delay ORPHA:2528
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Glossoptosis, Micrognathia, Anteri... OMIM:602483
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Van Maldergem Syndrome 1
High palate, Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Tented upp... OMIM:601390
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Short stature, Abnormality of dental e... ORPHA:1327
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Short stature, ... OMIM:617883
Filippi Syndrome
Decreased body weight, Postnatal growth retardation, Hypodontia, Thin vermilion border, Short phi... OMIM:272440
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Joint laxity, High, narrow palate OMIM:619692
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Prominent median palatal raphe, Sh... OMIM:300431
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Wide anterior fontanel, Malar flattening, Tracheomalacia, Micro... OMIM:615546
Seckel Syndrome 1
High palate, Dental malocclusion, Postnatal growth retardation, Cleft palate, Large basal ganglia... OMIM:210600
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Microphthalmia, I... OMIM:248700
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Relative macrocepha... OMIM:612921
Cofs Syndrome
Joint stiffness, Cerebral cortical atrophy, Everted lower lip vermilion, Short stature, Micrognat... ORPHA:1466
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Failure to thrive, Narrow mouth, Kyphoscoliosis, Microphthalmia, Cere... OMIM:600118
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Failure to thrive, Micrognathia, Osteopenia, Scoliosis, Cerebel... ORPHA:329178
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Prominent median palatal raphe, Sc... OMIM:300602
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita OMIM:608931
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Failure to thrive, Kyphosis, Cerebral cortical at... ORPHA:2115
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Abnormal bone ossification, Increased bone mineral density, ... ORPHA:163649
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Failure to thrive, Anodontia, Supernumerary tooth, Narrow palat... OMIM:264475
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hypodontia, Short stature, Enamel hypoplasia, Hypoplastic f... OMIM:253250
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Reduced bone mineral density, Short stature, Microce... ORPHA:3079
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Joint contract... OMIM:601668
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Failure to thrive, Narrow mouth, Macrodontia of permanent maxillary central ... OMIM:257850
2Q24 Microdeletion Syndrome
Failure to thrive, Cleft palate, Small for gestational age, Camptodactyly of finger, Short philtr... ORPHA:1617
Mmep Syndrome
Microcephaly, Oral cleft, Median cleft lip, Microphthalmia, Mandibular prognathia ORPHA:3434
Pierpont Syndrome
Long upper lip, Malar flattening, Everted lower lip vermilion, Thin vermilion border, Small for g... ORPHA:487825
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Hypoplas... OMIM:615771
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Wide mouth, Gingival overgrowth, Kyphoscoliosis, Triangular mouth, Cleft pal... OMIM:616331
Acrootoocular Syndrome
Dental malocclusion, Failure to thrive, Anodontia, Supernumerary tooth, High, narrow palate, Kyph... ORPHA:2980
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Short stature, Micrognathia, Microcephaly, Microphthalmia, Simplified gyral pat... OMIM:616171
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Short stature, Thin vermilion border, Microcephaly, Long philtrum, In... OMIM:615502
Cohen Syndrome
Thick corpus callosum, Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, ... OMIM:216550
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Short stature, Micrognathia, Short neck, Diastema ORPHA:436245
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Sclerosis of skull base, Macrocephaly, Malar flattening, Sho... OMIM:269300
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Short stature, Micrognathia, Short philtrum, Furrowed tongue... OMIM:248950
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Growth delay, Narrow palate, Short stature, Micrognathia, Osteopenia, Osteoa... OMIM:190350
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Decreased body weight, Pursed lips, Cleft palate, Sho... OMIM:619110
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Macrocephaly, Everted lower lip vermilion, Short stature, ... ORPHA:1193
Pierpont Syndrome
Failure to thrive, Decreased body weight, Prominent median palatal raphe, Long upper lip, Everted... OMIM:602342
Frank-Ter Haar Syndrome
High palate, Dental malocclusion, Wide anterior fontanel, Wide mouth, Gingival overgrowth, Kyphos... OMIM:249420
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Scoliosis, Joint contracture of ... OMIM:617258
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Joint stiffness, Platyspondyly, Scoliosis, Rhizomelia, Severe platyspondyly,... OMIM:608940
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Short stature, Micrognathia, Scoliosis, Rhizomelia, Cleft hard p... ORPHA:166016
Muenke Syndrome
High palate, Dental malocclusion, Macrocephaly, Malar flattening, Coronal craniosynostosis, Capit... OMIM:602849
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Micrognathia, Poorly ossified vertebrae, Cerebella... OMIM:619135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Cerebral cortical atrophy, Short stature, Micrognathia, Camptodactyly of finger, Scolio... ORPHA:48431
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Microphthalmia, Flexion contracture, Micrognathia, Long... OMIM:214150
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Wide anterior fontanel, Narrow palate, Joint contracture of the... OMIM:182212
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtrum... ORPHA:251028
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Multiple joint contractures, Thoracic scoliosis, Fragile teeth, Hypodontia, ... ORPHA:2959
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Anophthalmia, Microphthalmia, Vertebra... OMIM:221950
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Camptodactyly of finger, Microcephaly, Bifid uvula, Man... ORPHA:2521
Seckel Syndrome 2
Small for gestational age, Short stature, Micrognathia, Microcephaly, Microdontia, Cerebellar hyp... OMIM:606744
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Microcephaly, Oral cleft, Microphthalmia, Mandibular prognathia, W... OMIM:601349
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Small for gestational age, Short philtrum, Short neck, Anterior o... OMIM:123450
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dental malocclusion, Disproportionate short-limb short stature, Hypoplasti... OMIM:101800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Median cleft palate, Microphthalmia ORPHA:2432
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Microdontia,... OMIM:601216
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Scoliosis, Microdontia, Hyp... OMIM:619293
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Chromosome 16Q22 Deletion Syndrome
High palate, Failure to thrive, Wide anterior fontanel, Growth delay, Small for gestational age, ... OMIM:614541
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Macrocephaly, Short neck, Long philtrum, Delayed e... OMIM:157980
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... ORPHA:3473
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Glossoptosis, Micrognathia, Abnorm... ORPHA:137888
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short stature, Thin vermilion border, Short philtrum, Platyspondyly, Hyp... OMIM:156510
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scoliosis, Microdontia, Patchy disto... ORPHA:1248
Baraitser-Winter Syndrome 2
Wide mouth, Short stature, Retrognathia, Short neck, Long philtrum, Oral cleft, Lissencephaly, Mi... OMIM:614583
Heart And Brain Malformation Syndrome
Wide anterior fontanel, High, narrow palate, Cerebral atrophy, Everted lower lip vermilion, Campt... OMIM:616920
Short Syndrome
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Birth length less than ... OMIM:269880
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Decreased body weight, Small for gestational age, Short stature, Microcephaly, Hypo... ORPHA:93950
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Accessory oral frenulum, Micrognathia, Bilateral cleft lip and palate, Mi... OMIM:619339
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Microcephaly, Carious teeth OMIM:613680
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Lowry-Maclean Syndrome
Intrauterine growth retardation, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathi... ORPHA:2409
Microphthalmia, Syndromic 13
Kyphoscoliosis, Short stature, Microcephaly, Diastema, Microphthalmia OMIM:300915
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Kyphosis, Narrow palate, Macrodontia of permanent maxillary central incisor, Macro... ORPHA:364028
Kabuki Syndrome 2
High palate, Dental malocclusion, Decreased body weight, Hypodontia, Cleft palate, Short stature,... OMIM:300867
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Failure to thrive, Taurodontia, Macrodontia of pe... ORPHA:444072
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Proximal symphalangism of hands, Hypod... ORPHA:363417
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Severe short stature, Increased bone mineral density, Cleft palate, High, narrow pa... ORPHA:2780
Arthrogryposis, Distal, Type 3
High palate, Decreased hip abduction, Lumbar hyperlordosis, Kyphoscoliosis, Cleft palate, Short s... OMIM:114300
Hallermann-Streiff Syndrome
High palate, Decreased number of sternal ossification centers, Microphthalmia, Proportionate shor... OMIM:234100
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, High palate, Kyphosis, Macrocephaly, Scoliosis, Hypoplasia of the maxilla, Mandibu... OMIM:300676
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Cerebral atr... OMIM:618729
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Faciothoracogenital Syndrome
Micrognathia, Long philtrum, Microphthalmia, Thin upper lip vermilion, Smooth philtrum OMIM:227320
Hajdu-Cheney Syndrome
High palate, Osteopenia, Foot acroosteolysis, Short neck, Biconcave vertebral bodies, Osteolytic ... OMIM:102500
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Flexion contracture of the 2nd toe, Abnormality of the dentition... ORPHA:2712
Osteopathia Striata With Cranial Sclerosis
High palate, Macrocephaly, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Anal atresia... OMIM:300373
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Anal atresia, Dysplastic corpus callosum, Velopha... ORPHA:363444
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Short stature, Mi... ORPHA:85321
Oliver Syndrome
High palate, Dental malocclusion, Camptodactyly of finger, Short philtrum, Scoliosis, Microcephal... ORPHA:2920
Monosomy 18P
Kyphoscoliosis, Tooth malposition, Cleft palate, Hypodontia, Short stature, Micrognathia, Short p... ORPHA:1598
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Spondylolisthesis, Everted lower lip vermilion, Short stature, Long philtrum, Anteri... OMIM:617877
Fetal Alcohol Syndrome
Vertebral segmentation defect, Joint stiffness, Microphthalmia, Cleft palate, Short stature, Bipa... ORPHA:1915
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion, Macrocephaly, Flexion contracture, Pyloric stenosis, Dandy-Walk... OMIM:310400
Nestor-Guillermo Progeria Syndrome
Dental crowding, Dental malocclusion, Failure to thrive, Joint stiffness, Microretrognathia, Flex... OMIM:614008
Cerebrooculofacioskeletal Syndrome 4
Kyphoscoliosis, Decreased body weight, Short stature, Micrognathia, Camptodactyly of finger, Shor... OMIM:610758
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... ORPHA:800
Anencephaly 2
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Hypodontia, H... OMIM:263540
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Small for gestational age, Micrognathia, Camptodactyly of finger, Microcephaly, M... OMIM:610756
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Failure to thrive, Macrocephaly, Relative macrocephaly, Cerebra... OMIM:115150
Holoprosencephaly 9
Cleft upper lip, Hypoplasia of the premaxilla, Dental malocclusion, Cleft palate, Malar flattenin... OMIM:610829
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Lujan-Fryns Syndrome
High palate, Macrocephaly, Micrognathia, Camptodactyly of finger, Abnormality of the dentition, S... ORPHA:776
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Hypoplasia of the maxilla, Basal ganglia calcification, Craniosynostosis OMIM:608432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Short statu... OMIM:616202
Dysostosis, Stanescu Type
Kyphosis, Tooth agenesis, Increased bone mineral density, Massively thickened long bone cortices,... ORPHA:1798
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Short stature, Glossoptosis, Camptodactyly of finger, Microcepha... ORPHA:3201
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Microcephaly, Microdontia, Camptodactyly, Widely spaced teeth, Knee flexion contrac... OMIM:619694
Mucopolysaccharidosis, Type Ix
Finger joint hypermobility, Short stature, Bifid uvula, Lumbar scoliosis, Submucous cleft hard pa... OMIM:601492
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Short neck, Platyspondyly, Agenesis of corpus callosum, Downturned ... ORPHA:93267
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Cerebral atrophy, Microcephaly, Microphthalmia, Growth delay, Agenesis of corp... OMIM:274270
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Microcephaly, Macrocephaly, Notched primary central incisor, Short stature OMIM:620062
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Retrognathia, Microcephaly, Microphthalmia, Pierre-Robin sequence OMIM:619981
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Camptodactyly, Hypoplastic frontal sinuses, H... OMIM:136760
Baraitser-Winter Syndrome 1
Cleft upper lip, Failure to thrive, Wide mouth, Short stature, Retrognathia, Microcephaly, Short ... OMIM:243310
Hydrolethalus
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anophthalmia, Bifid uvula, Anencephaly,... ORPHA:2189
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Macrocephaly, Short stature, Short neck, Scoliosis, Large for ge... OMIM:610733
Congenital Disorder Of Glycosylation, Type Iig
High palate, Vertebral segmentation defect, Butterfly vertebrae, Postnatal growth retardation, Ce... OMIM:611209
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Short stature, Thick vermilio... OMIM:603463
Sandestig-Stefanova Syndrome
High palate, Small for gestational age, Retrognathia, Short neck, Hypoplasia of the corpus callos... OMIM:618804
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Short stature, Micrognathia, Short neck, Synostosis of carpal bones, Microdontia, Scoli... ORPHA:3191
Warburg Micro Syndrome 3
Kyphoscoliosis, Narrow palate, Cerebral cortical atrophy, Flexion contracture, Micrognathia, Micr... OMIM:614222
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Kyphosis, Macrocephaly, Triangular mouth, Cleft palate,... OMIM:616894
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Cleft palate, Malar fl... OMIM:108300
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Short stature, Thin vermilion border, Microcephaly, Bifid uvula... OMIM:617412
Apert Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Rhizomelic arm shortening, Pyloric ste... OMIM:101200
Craniofaciofrontodigital Syndrome
Dental malocclusion, Hypoplastic vertebral bodies, Macrocephaly, Short stature, Abnormality of th... OMIM:114620
Short Stature, Dauber-Argente Type
Short stature, Reduced bone mineral density, Osteopenia, Microcephaly, Delayed eruption of teeth,... OMIM:619489
Cockayne Syndrome B
Subcortical white matter calcifications, Carious teeth, Microphthalmia, Mandibular prognathia, Hy... OMIM:133540
Temtamy Syndrome
Macrocephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Abnormal p... ORPHA:1777
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Subcortical... OMIM:618737
Takenouchi-Kosaki Syndrome
Dental malocclusion, Wide mouth, Cerebral cortical atrophy, Short philtrum, Long philtrum, Scolio... OMIM:616737
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Bresek Syndrome
Cleft palate, Optic nerve hypoplasia, Hemivertebrae, Microcephaly, Scoliosis, Neonatal death, Mic... ORPHA:85284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Osteopenia, Hypoplasia of the corpus callosum, Sagittal craniosyn... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Osteopenia, Hypoplasia of the corpus callosum, Sagittal craniosyn... ORPHA:352665
Neu-Laxova Syndrome
Cleft palate, Cerebral calcification, Osteopenia, Polymicrogyria, Pachygyria, Trismus, Intrauteri... ORPHA:2671
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Short neck, Long philtru... ORPHA:178303
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Flexion con... OMIM:265000
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microcephaly, Microphthalmia, Small for gestational age OMIM:278780
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Decreased body weight, Dysplastic corpus callosum, Flexion contracture, Short statu... OMIM:614833
Turnpenny-Fry Syndrome
High palate, Dental malocclusion, Failure to thrive, Decreased body weight, Narrow mouth, Lumbar ... OMIM:618371
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormal vertebral segmentation and f... ORPHA:915
Desmosterolosis
Macrocephaly, Cleft palate, Polymicrogyria, Pachygyria, Intrauterine growth retardation, Severe s... ORPHA:35107
Lessel-Kreienkamp Syndrome
Dental malocclusion, Thin upper lip vermilion, Open mouth OMIM:619149
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Microcephaly, Short neck, Anophthalmia, Microphthalmia OMIM:613885
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Macrocephaly, Short stature, Camptodactyly of finger, Microcephaly, Hypoplasia of th... ORPHA:85279
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, Failure to thrive, High, narrow palate, Malrotati... OMIM:601095
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Postnatal growth retardation, Cleft palate, Small for gestational age,... ORPHA:96184
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Hypoplasia of the maxilla, High, narrow palate, Flexion contracture, R... OMIM:180849
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Wide anterior fontanel, Disproportionate short-limb short stature, Dentinoge... OMIM:259420
Phelan-Mcdermid Syndrome
High palate, Dental malocclusion, Macrocephaly, Malar flattening, Micrognathia, Microcephaly, Lon... OMIM:606232
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Talon cusp, Diastema, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Cleft palate, Short stature, Micrognathia, Microcephaly, Short neck, Microdontia, H... OMIM:616734
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Wide anterior fontanel, Contracture of the proximal interphalangeal joint of the 4th... ORPHA:457279
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla, Short stature ORPHA:2776
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxilla OMIM:246560
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Hypoplasia of the maxilla, Small for gestational age OMIM:618302
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
7Q11.23 Microduplication Syndrome
High palate, Macrocephaly, Craniosynostosis, Hemivertebrae, Short philtrum, Short neck, Simplifie... ORPHA:96121
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Cleft palate, Microcephaly, Microdontia, Widely spaced teeth, Micro... ORPHA:2728
Adams-Oliver Syndrome 2
Macrocephaly, Cerebral atrophy, Micrognathia, Microcephaly, Cerebellar hypoplasia, Polymicrogyria... OMIM:614219
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Hypo... ORPHA:193
Micro Syndrome
High palate, Joint stiffness, Kyphosis, Cerebral cortical atrophy, Short stature, Micrognathia, S... ORPHA:2510
Ring Chromosome 10 Syndrome
Thin vermilion border, Micrognathia, Cachexia, Short neck, Long philtrum, Microphthalmia, Intraut... ORPHA:1438
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Short stature, Thin vermilion border, Intestinal malr... OMIM:614701
Robinow Syndrome
Dental crowding, Macrocephaly, Triangular mouth, Hemivertebrae, Ankyloglossia, Tooth malposition,... ORPHA:97360
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Kyphosis, Dentinogenesis imperfecta, Reduced bone mineral dens... OMIM:166220
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Dental malocclusion, High palate, Supernumerary tooth, Phthisis ... OMIM:211380
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, Fa... OMIM:269500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Small for gestational age, Short stature, Osteopenia, Hypoplasi... OMIM:608154
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Hypoplasia of the maxilla, Proportionate short stature, Epiphyseal stippling o... ORPHA:79345
Atelosteogenesis, Type Iii
Malar flattening, Cleft palate, Horizontal sacrum, Micrognathia, Short neck, Scoliosis, Rhizomeli... OMIM:108721
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Cleft palate, Long philtrum, Failure to thrive in infancy, Dist... OMIM:618975
Hartsfield Syndrome
Microphthalmia, Cleft palate, Craniosynostosis, Non-midline cleft lip, Intrauterine growth retard... ORPHA:2117
Dubowitz Syndrome
High palate, Wide mouth, Wide anterior fontanel, Malabsorption, Craniosynostosis, Short stature, ... ORPHA:235
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Periodontitis, Beaking of vertebral bodies, S... OMIM:231070
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Macrocephaly, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Postnatal growth retardation, Micrognathia, Short philtrum, Scoliosis, Joint hypermo... ORPHA:254531
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Wide anterior fontanel, Gingival hyperkeratosis, Gingival overgrowth, Hypodontia, Recurrent mandi... OMIM:225410
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt... OMIM:612731
Hamamy Syndrome
High palate, Dental malocclusion, Recurrent fractures, Wide mouth, Hypodontia, Craniosynostosis, ... OMIM:611174
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Growth delay, Cleft palate, Retrognathia, Camptodactyly of 2nd-5th ... OMIM:206920
Microcephaly-Micromelia Syndrome
Narrow mouth, Cleft palate, Craniosynostosis, Micrognathia, Microcephaly, Short neck, Microphthal... OMIM:251230
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Enamel hypomi... ORPHA:3352
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Narrow palate, Joint contracture of the hand, Malar flattening... OMIM:235510
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short stature, Thin vermilion border, Short neck, Long p... ORPHA:85194
Saul-Wilson Syndrome
Wide anterior fontanel, Short stature, Micrognathia, Platyspondyly, Postnatal growth retardation,... OMIM:618150
Spondyloenchondrodysplasia
Dental malocclusion, Kyphosis, Short stature, Juvenile rheumatoid arthritis, Cerebral calcificati... ORPHA:1855
Osteogenesis Imperfecta
Macrocephaly, Osteopenia, Abnormality of the dentition, Biconcave vertebral bodies, Delayed erupt... ORPHA:666
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Short stature, Thin vermilion border, Joint hyp... ORPHA:50814
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip v... ORPHA:364577
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia OMIM:615524
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Wide anterior fontanel, Macrocephaly, Cleft palate, Malar flattening, Sh... OMIM:607812
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Cerebral atrophy, Cleft palate, Short stature, Small for gestational age, Hypo... OMIM:614261
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Microphthalmia OMIM:120433
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Macrocephaly, Cleft palate, Craniosynostosis, Biparietal narrowing, Ca... ORPHA:251038
Meier-Gorlin Syndrome 5
Failure to thrive, Short stature, Micrognathia, Microcephaly, Long philtrum, Birth length less th... OMIM:613805
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Mala... OMIM:154780
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Intrauterine growth retardation, Lumbar hyperlord... OMIM:211910
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Macrocephaly, Cleft palate, Carious teeth, Absen... OMIM:114290
Mend Syndrome
High palate, Failure to thrive, Wide anterior fontanel, Kyphosis, Cleft palate, Short stature, Da... ORPHA:401973
Cockayne Syndrome A
Dental malocclusion, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Hip contrac... OMIM:216400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Dandy-Walker malformation, Short philtrum, ... ORPHA:487796
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Macrocephaly, Malar flattening, Short stature, Microcephaly, Unil... OMIM:618874
Coffin-Lowry Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Advanced eruption of teeth, Aplasia/Hypoplasi... ORPHA:192
X-Linked Intellectual Disability, Porteous Type
Decreased body weight, Short stature, Short philtrum, Hypoplasia of the maxilla, Mandibular progn... ORPHA:93945
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Malar flattening, Short stature, Long philtrum, Hypoplasia of the max... ORPHA:261295
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Anencephaly, Delayed eruption of teeth, Advanced eruption of teeth, ... OMIM:619148
Schilbach-Rott Syndrome
Narrow mouth, Short stature, Micrognathia, Microcephaly, Bifid uvula, Submucous cleft hard palate OMIM:164220
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Vertebral segmentation defect, Cleft palate, Short stature, Short p... OMIM:612530
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Microcephaly, Microphthalmia ORPHA:3469
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Mandibular prognathia, Long ... OMIM:193700
Coffin-Lowry Syndrome
High palate, Dental malocclusion, Kyphosis, Decreased body weight, Narrow palate, Hypodontia, Eve... OMIM:303600
Localized Scleroderma
Dental malocclusion, Flexion contracture, Abnormal facial skeleton morphology, Abnormality of the... ORPHA:90289
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft OMIM:611638
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Microcephaly, Bifid uvula, Submucous cleft hard palate OMIM:619239
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... ORPHA:73272
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Persistence of primary teeth, Prominent frontal sinuses, Cleft palate, Short mandibu... OMIM:170390
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Microphth... OMIM:302350
Joubert Syndrome 37
High palate, Lumbar hyperlordosis, Joint hypermobility, Short stature, Hypoplasia of the corpus c... OMIM:619185
Oculocerebrocutaneous Syndrome
Cleft palate, Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus... OMIM:164180
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Scolios... ORPHA:404440
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Hypodontia, Absent cupid's bow... ORPHA:2919
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Short stature, Microcephaly, Protruding tongue, Joint h... OMIM:618106
3P25.3 Microdeletion Syndrome
High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Scoliosis, Downturned corners of... ORPHA:435638
Trisomy 13
Kyphosis, High, narrow palate, Malar flattening, Cleft palate, Abnormality of the dentition, Long... ORPHA:3378
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Osteopenia, Scoliosis, Delayed eruption of teeth, Osteolytic... OMIM:601812
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Oligodontia, Jaw swelling, Multipl... OMIM:118400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Failure to thrive, Flexion contracture, Thin vermilion border, Long philtrum, Agenes... ORPHA:481152
Walker-Warburg Syndrome
Macrocephaly, Cleft palate, Macrogyria, Microcephaly, Anophthalmia, Bifid uvula, Polymicrogyria, ... ORPHA:899
Moebius Syndrome
High palate, Micrognathia, Abnormality of the dentition, Short neck, Bifid uvula, Camptodactyly, ... OMIM:157900
Cockayne Syndrome
Cerebral calcification, Subcortical white matter calcifications, Carious teeth, Primary microceph... ORPHA:191
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Polymicrogyria, Joint laxity, Microphthalmia, Megalencephaly, Progressiv... OMIM:602501
Peters-Plus Syndrome
Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Birth length less than 3... OMIM:261540
Aarskog-Scott Syndrome
Cleft upper lip, Failure to thrive, Hypodontia, Cleft palate, Short stature, Hyperextensibility o... OMIM:305400
Microphthalmia, Lenz Type
Kyphosis, Short stature, Abnormality of the dentition, Camptodactyly of finger, Microcephaly, Sco... ORPHA:568
Congenital Varicella Syndrome
Microcephaly, Cerebral cortical atrophy, Intrauterine growth retardation, Microphthalmia ORPHA:291
Marden-Walker Syndrome
Cleft palate, Radioulnar synostosis, Pyloric stenosis, Intrauterine growth retardation, Joint sti... ORPHA:2461
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Irregular vertebral endplates, Postnatal growth retardation, M... ORPHA:439822
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Short stature, Micrognathia, Short philtrum, Platyspondyly, Cerebellar hypoplasia, Rh... ORPHA:163966
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Butterfly vertebrae, Short stature, Retrognathia, Tracheoesophageal fistula, Mi... OMIM:619227
Martin-Probst Syndrome
Dental malocclusion, Wide mouth, Malar flattening, Short stature, Micrognathia, Microcephaly, Thi... OMIM:300519
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Basal ganglia calcification, Short stature, Osteopetro... OMIM:259730
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Macrocephaly, Elbow ankylosis, Cleft palate, Mandibular prognathia, Abnormal cortical... ORPHA:2658
Martsolf Syndrome 1
High palate, Lumbar hyperlordosis, Thoracic scoliosis, Tooth malposition, Tracheomalacia, Finger ... OMIM:212720
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Macrocephaly, Dentinogenesis imperfecta, Microretrognathia, Short stature,... OMIM:616294
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft palate, Short stature, Short neck, Long philtrum, Scoliosis, Inferior ce... OMIM:618571
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Postnatal growth retardation, Hypodontia, Cleft palate, Oligodo... OMIM:619184
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Failure to thrive, Decreased body weight, Macrocephaly, Flexion contracture, Short s... OMIM:300534
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Microcephaly, Long philtrum, Hypoplasia of the corpus callosum, Tented upper lip ver... OMIM:614105
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Micrognathia, Osteopenia, Carpal osteolysis, Hypoplasia of the maxilla, Os... OMIM:166300
Carpenter Syndrome 1
High palate, Persistence of primary teeth, Joint contracture of the hand, Malar flattening, Short... OMIM:201000
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Malar flattening... OMIM:252100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, Scoliosis, Hypoplasia of the maxilla, Agenesis of corpus callosum OMIM:218000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Wide anterior fontanel, Cleft palate, Micrognathia, Decreased calvarial ossificatio... OMIM:617925
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Dental malocclusion, Wide mouth, Narrow palate, Camptodactyly, Deep philtrum, Propor... OMIM:227330
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Macrocephaly, Microretrognathia, Cleft palate, Short stature, Microdon... ORPHA:1307
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula, Joint laxity, Micr... OMIM:601552
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Joint contracture of the hand, Malar flattening, Micrognathia, Camptodactyly OMIM:608257
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Eclabion, Carious teeth, Pyloric stenosis, Natal tooth, Microph... OMIM:616395
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Microphthalmia, Macrocephaly at birth, Oral cleft ORPHA:324416
Acrocallosal Syndrome
High palate, Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Short philtrum, Open mouth... OMIM:200990
Branchioskeletogenital Syndrome
Premature loss of teeth, Abnormality of the vertebral spinous processes, Craniosynostosis, Thin v... ORPHA:1299
Barber-Say Syndrome
High palate, Dental malocclusion, Wide mouth, Gingival overgrowth, Velopharyngeal insufficiency, ... OMIM:209885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Short stature, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Simplified ... OMIM:251270
Isolated Childhood Apraxia Of Speech
Caudate atrophy, High, narrow palate, Abnormal caudate nucleus morphology, Submucous cleft hard p... ORPHA:209908
Frontorhiny
Lumbar hyperlordosis, Cleft palate, Camptodactyly of finger, Bifid tongue, Scoliosis, Hypoplastic... ORPHA:391474
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Trismus, Submucous cleft hard palate OMIM:609166
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Kyphoscoliosis, Stippled calcification in carpal bones, Postnatal growth retar... OMIM:302960
Dubowitz Syndrome
High palate, Velopharyngeal insufficiency, Short stature, Micrognathia, Microcephaly, Agenesis of... OMIM:223370
Mccune-Albright Syndrome
Recurrent fractures, Dental malocclusion, Monostotic fibrous dysplasia, Fibrous dysplasia of the ... ORPHA:562
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Micrognathia, Camptodactyly of finger, Microphthalmia, Limitation of joint mob... ORPHA:2547
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Un... OMIM:619103
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Abnormality of the vertebral column, Anophthalmia, Microphthalmia OMIM:600776
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Malar flattening, Short stature, Abnormality of the vertebral column, Rieger anomal... OMIM:109120
3Mc Syndrome 1
Cleft upper lip, Growth delay, Wide anterior fontanel, Cleft palate, Coronal craniosynostosis, Mi... OMIM:257920
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Tetrasomy 5P
High palate, Failure to thrive, Wide anterior fontanel, Macrocephaly, Micrognathia, Short neck, L... ORPHA:3309
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Aplasia/Hypo... ORPHA:93262
Amish Lethal Microcephaly
Micrognathia, Microcephaly, Osteoporosis, Agenesis of corpus callosum, Decreased skull ossificati... ORPHA:99742
Craniotelencephalic Dysplasia
Craniosynostosis, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-opti... ORPHA:1528
Zttk Syndrome
High palate, Macrocephaly, Craniosynostosis, Abnormality of the dentition, Short philtrum, Hemive... OMIM:617140
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Six lumbar vertebrae, Unilateral cleft palate, Unilateral cleft lip, Joint hypermob... OMIM:619122
Pallister W Syndrome
Agenesis of central incisor, Joint contracture of the hand, Camptodactyly, Broad uvula, Agenesis ... OMIM:311450
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Joint stiffness, Microspherophakia, Narrow palate, Lumbar hyperlordosis, T... OMIM:277600
Angelman Syndrome
Wide mouth, Cerebral cortical atrophy, Macroglossia, Scoliosis, Widely spaced teeth, Protruding t... OMIM:105830
Ear-Patella-Short Stature Syndrome
Failure to thrive, Narrow mouth, Severe short stature, High, narrow palate, Cleft palate, Cranios... ORPHA:2554
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Basal ganglia calcification,... OMIM:164200
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition, Microphthalmia ORPHA:627
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... OMIM:608156
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
X-Linked Dominant Chondrodysplasia Punctata
High palate, Kyphoscoliosis, Anterior rib punctate calcifications, Flexion contracture, Abnormall... ORPHA:35173
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Microphthalmia, Intrauterine growth retardation, Failure to... ORPHA:858
Galloway-Mowat Syndrome 3
High palate, Failure to thrive, Narrow mouth, Hiatus hernia, Cerebral atrophy, Short stature, Mic... OMIM:617729
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Malar flattening, Cleft palate, Short stature, Micrognathia, Hypoplasia ... ORPHA:79113
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, B... ORPHA:861
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcephaly, Long philtrum, Deep philtrum, Microphthalmia, Mandibular prognathia, Simplified gyr... OMIM:152950
Crouzon Syndrome
Narrow palate, Cerebellar hypoplasia, Multiple suture craniosynostosis, Hypoplasia of the maxilla... ORPHA:207
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Short stature, Micrognathia, Short neck, Delayed eruption of teeth, Bifid uvula, Cl... OMIM:300990
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate, Microphthalmia ORPHA:1135
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula, Cortical dysplasia, Microphthalmia, Abnormal vertebral m... ORPHA:261272
Skin Creases, Congenital Symmetric Circumferential, 1
High palate, Narrow mouth, Cleft palate, Micrognathia, Microcephaly, Short neck, Hypoplasia of th... OMIM:156610
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Wide mouth, Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Re... OMIM:212066
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Cerebral cortical atrophy, Retrognathia, Microcephaly, Partial agenesis of the corp... OMIM:234050
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the frontal bone,... ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Abnormally large globe, Microcephaly, Scoliosis, Cerebellar hypoplasia, Type... OMIM:615249
Keipert Syndrome
Macrocephaly, Short stature, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated c... ORPHA:2662
Acrodysostosis
Spinal canal stenosis, Open bite, Short stature, Delayed eruption of teeth, Abnormal form of the ... ORPHA:950
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Severe intrauterine growth retardation, Spinal canal stenos... ORPHA:2323
Restrictive Dermopathy 1
Intrauterine growth retardation, Wide anterior fontanel, Temporomandibular joint ankylosis, Narro... OMIM:275210
3Q29 Microdeletion Syndrome
High palate, Failure to thrive, Macrocephaly, Everted lower lip vermilion, Abnormality of the den... ORPHA:65286
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Narrow mouth, Cerebral cortical atrophy, Flexion contracture, Short s... OMIM:615663
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Short stat... OMIM:129400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Abnormality of the dentition, Agenesis of cerebellar vermis, Conical to... ORPHA:228390
Myhre Syndrome
Joint stiffness, Narrow mouth, Intrauterine growth retardation, Severe short stature, Cleft palat... ORPHA:2588
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental malocclusion, Failure to thrive, Narrow palate, Supernumerary tooth, Hypodontia, Growth de... ORPHA:353281
Orofaciodigital Syndrome Type 2
High palate, Taurodontia, Agenesis of central incisor, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Non-Specific Syndromic Intellectual Disability
High palate, Kyphosis, Narrow mouth, Decreased body weight, Frontal cortical atrophy, Relative ma... ORPHA:528084
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Decreased body weight, Short stature, Abnormally large globe, Micrognathia, Optic ne... OMIM:300749
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Cleft palate, Cerebral cortical hemiatrophy, Short philtrum, Oral syne... ORPHA:2753
Meier-Gorlin Syndrome 4
Failure to thrive, Narrow mouth, Short stature, Micrognathia, Microcephaly, Birth length less tha... OMIM:613804
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Short stature, Torus palatinus, Microcephaly, An... OMIM:147250
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin bony cortex, C1-C2 subluxation, Hypoplasia of the max... OMIM:259600
Fontaine Progeroid Syndrome
Craniosynostosis, Platyspondyly, Microdontia, Hypoplasia of the corpus callosum, Anteriorly place... OMIM:612289
W Syndrome
Camptodactyly, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft... ORPHA:2804
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Cleft lip, Microphtha... OMIM:603457
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Scoliosis, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Microph... ORPHA:494344
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Microphthalmia, Esophageal atresia, Smooth philtrum OMIM:614526
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Microcephaly, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primar... ORPHA:438216
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Small cerebral cortex, Microphthalmia, Simpl... OMIM:617914
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of cor... OMIM:218670
Stevenson-Carey Syndrome
Narrow mouth, Joint contracture of the hand, Scoliosis, Cerebellar hypoplasia, Hypoplasia of the ... OMIM:611961
Lissencephaly 8
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II l... OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II lissencepha... OMIM:613153
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Short stature, Hemivertebrae, Microcephaly, Unilateral microphthalmos, Bilateral mi... OMIM:619318
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Failure to thrive, Long upper lip, Cleft palate, Everted lower lip vermilion, Microg... OMIM:608670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Anal atresia, Microretrognathia, Microphthalmia, Cleft palate, Relative... OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Spinal rigidity, Macroglossia, Cleft palate, Buphthalmos, Microcephaly, Scoliosi... OMIM:613150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia, Macrocephaly, Microphthalmia OMIM:617306
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Macroglossia, Short stature, Arthrogryposis-like hand anomaly, Short nec... ORPHA:369891
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, High, narrow palate, Cleft palate, Everted lower lip vermilion, Retrognathia, Contractu... ORPHA:464738
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Joubert Syndrome 14
Malar flattening, Open mouth, Short philtrum, Tented upper lip vermilion, Microphthalmia, Growth ... OMIM:614424
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Fanconi Anemia, Complementation Group G
Growth delay, Microcephaly, Microphthalmia OMIM:614082
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Macroglossia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... ORPHA:370959
Cousin Syndrome
Alveolar ridge overgrowth, Joint contracture of the hand, Cleft palate, Micrognathia, Camptodacty... OMIM:260660
Nanophthalmos
Microphthalmia ORPHA:35612
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Wide anterior fontanel, Disproportionate short-limb short stature, Dentinoge... OMIM:610915
Chromosome 8Q21.11 Deletion Syndrome
High palate, Cleft palate, Micrognathia, Short philtrum, Short neck, Hypoplasia of the corpus cal... OMIM:614230
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Carious teeth OMIM:615560
Holoprosencephaly 13, X-Linked
Duodenal atresia, Butterfly vertebrae, Median cleft palate, Cleft palate, Vertebral clefting, Mic... OMIM:301043
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Hypoplasia ... OMIM:213980
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Wide mouth, Disproportionate short-limb short stature, Kyphosis, Macroglossia, R... OMIM:619194
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Tooth malposition, Cleft palate, Failure of eruption of permane... ORPHA:2250
Multiple Benign Circumferential Skin Creases On Limbs
Cleft palate, Short stature, Micrognathia, Microcephaly, Long philtrum, Microphthalmia ORPHA:2505
Frontofacionasal Dysplasia
Cleft upper lip, Malar flattening, Bifid uvula, Oral cleft, Hypoplasia of the frontal bone, Micro... OMIM:229400
Focal Dermal Hypoplasia
Cleft upper lip, Dental malocclusion, Hiatus hernia, Hypodontia, Cleft palate, Short stature, Int... OMIM:305600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Craniosynostosis, Hypoplasia of the corpus callosum, Polymicrogyria,... ORPHA:468631
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Joint laxity, Bilateral microphthalmos OMIM:608763
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of th... OMIM:241310
Andersen-Tawil Syndrome
High palate, Persistence of primary teeth, Short stature, Micrognathia, Abnormality of the dentit... ORPHA:37553
Galloway-Mowat Syndrome 1
High palate, Wide mouth, Hiatus hernia, Joint contracture of the hand, Cerebral atrophy, Small fo... OMIM:251300
Kapur-Toriello Syndrome
Cleft upper lip, Joint contracture of the hand, Cleft palate, Intestinal malrotation, Camptodacty... OMIM:244300
Biemond Syndrome Type 2
Obesity, Short stature, Delayed puberty, Microphthalmia ORPHA:141333
Cerebrofacioarticular Syndrome
Narrow mouth, Dysplastic corpus callosum, Tracheomalacia, Short stature, Micrognathia, Osteopenia... ORPHA:314679
Distal Xq28 Microduplication Syndrome
High palate, Short stature, Microcephaly, Short lingual frenulum, Hypoplasia of the maxilla, Open... ORPHA:293939
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Macrocephaly, Flexion contracture, Hyperextensibility of the finger joints, Microgna... OMIM:309520
Rothmund-Thomson Syndrome, Type 2
High palate, Kyphoscoliosis, Supernumerary tooth, Small for gestational age, Short stature, Micro... OMIM:268400
Stromme Syndrome
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Micrognathia, Optic nerve hyp... OMIM:243605
Mosaic Trisomy 1
Wide mouth, Thoracic scoliosis, Microretrognathia, Macrocephaly, Cleft palate, Camptodactyly of f... ORPHA:1692
Craniosynostosis And Dental Anomalies
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, Short stature, Coronal cran... OMIM:614188
Mosaic Trisomy 9
High palate, Cleft palate, Biparietal narrowing, Intestinal malrotation, Micrognathia, Camptodact... ORPHA:99776
Marshall Syndrome
High palate, Thick upper lip vermilion, Cleft palate, Malar flattening, Short stature, Micrognath... ORPHA:560
2Q31.1 Microdeletion Syndrome
Vertebral segmentation defect, Kyphosis, Cerebral cortical atrophy, Cleft palate, Everted lower l... ORPHA:251014
Williams Syndrome
Wide mouth, Osteopenia, Tracheoesophageal fistula, Microdontia, Carious teeth, Radioulnar synosto... ORPHA:904
Cowden Syndrome 5
High palate, Kyphosis, Narrow mouth, Micrognathia, Scoliosis, Furrowed tongue, Hypoplasia of the ... OMIM:615108
Cat-Eye Syndrome
Anal atresia, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Hallermann-Streiff Syndrome
Recurrent fractures, Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow p... ORPHA:2108
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, High, narrow palate, Long philtrum, Probst bundles, Anteriorly placed anus, Growth d... OMIM:612863
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Retrognathia, Micrognathia, Hypoplasia of the corpus callosu... OMIM:618914
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Spondylolisthesis, Osteoarthritis of the small joints of the ha... ORPHA:284984
Microphthalmia With Limb Anomalies
High palate, Hypoplasia of the premaxilla, Failure to thrive, Cleft upper lip, Microphthalmia, Cl... ORPHA:1106
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Anal stenosis, G... ORPHA:782
Myhre Syndrome
Macrocephaly, Cleft palate, Short philtrum, Short neck, Birth length less than 3rd percentile, Pl... OMIM:139210
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Lumbar hyperlordosis, Cleft palate, Short stature, Micrognathia, ... ORPHA:2839
8Q21.11 Microdeletion Syndrome
High palate, Narrow mouth, Micrognathia, Camptodactyly of finger, Short philtrum, Abnormality of ... ORPHA:284160
Meckel Syndrome, Type 4
Cleft palate, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of cerebella... OMIM:611134
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
Noonan Syndrome 1
High palate, Dental malocclusion, Kyphoscoliosis, High, narrow palate, Cleft palate, Short statur... OMIM:163950
Monosomy 9Q22.3
Kyphosis, Narrow mouth, Macrocephaly, Calcification of falx cerebri, Odontogenic keratocysts of t... ORPHA:77301
Ellis Van Creveld Syndrome
Failure to thrive, Neonatal short-limb short stature, Hypodontia, Thin vermilion border, Abnormal... ORPHA:289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Carious teeth, Abnormality of the curvature of the vertebral column, Intrauterine gr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Carious teeth, Abnormality of the curvature of the vertebral column, Intrauterine gr... ORPHA:353277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Short stature, Microcephaly, Bifid uvula, Absence of the sacrum, Submucous c... OMIM:617660
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Short stature, Platyspondyly, Rhizomelia, Microphthalmia, Intrauterine growth retar... OMIM:300863
Fryns Syndrome
High palate, Wide mouth, Ectopic anus, Anal atresia, Duodenal atresia, Microphthalmia, Cleft pala... ORPHA:2059
Acrofacial Dysostosis, Cincinnati Type
Decreased body weight, Cleft palate, Short stature, Retrognathia, Micrognathia, Microcephaly, Hyp... OMIM:616462
Aicardi Syndrome
Cleft upper lip, Butterfly vertebrae, Hiatus hernia, Cleft palate, Prominence of the premaxilla, ... OMIM:304050
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microcephaly, Hypoplasia of the maxilla, Bilateral microphth... ORPHA:2399
Cowden Syndrome 6
High palate, Kyphosis, Narrow mouth, Micrognathia, Scoliosis, Furrowed tongue, Hypoplasia of the ... OMIM:615109
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Oste... OMIM:166200
Basal Cell Nevus Syndrome
Cleft upper lip, Kyphoscoliosis, Vertebral wedging, Macrocephaly, Irregular ossification of hand ... OMIM:109400
Aicardi Syndrome
Cleft upper lip, Malabsorption, Butterfly vertebrae, Hiatus hernia, Cleft palate, Prominence of t... ORPHA:50
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Osteoporosis-Pseudoglioma Syndrome
Short stature, Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures, Mic... ORPHA:2788
Apert Syndrome
Ectopic anus, Vertebral segmentation defect, Narrow palate, Cervical C5/C6 vertebrae fusion, Clef... ORPHA:87