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Gene: Foxn3 MGI:1918625

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Foxn3em1(IMPC)Bay HOM   Early adult 0.00
decreased prepulse inhibition Foxn3em1(IMPC)Bay HET   Early adult 7.18×10-07

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

VIP of left eye

16 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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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
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Short stature, Macrocephaly, Joint laxity, Kyphoscol... OMIM:608545
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Mcdonough Syndrome
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Micrognathia, Cachexia, Shor... ORPHA:2471
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Micrognathia, Microphthalmia, Microcephaly, Intrauterine growth retardatio... OMIM:616570
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, High palate, Relative macrocephaly, Mild short stature OMIM:618292
Alpha-Mannosidosis
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Arthrit... ORPHA:61
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Rubinstein-Taybi Syndrome 2
Retrognathia, Dental malocclusion, Talon cusp, Narrow palate, High palate, Short stature, Microgn... OMIM:613684
Potocki-Lupski Syndrome
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Short stature, Small for ges... OMIM:610883
Craniosynostosis 3
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Partial agenesis of t... OMIM:615314
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Microcephaly, Short stature OMIM:615541
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Scoliosis, Abnormality of th... ORPHA:1858
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... OMIM:619719
Pycnodysostosis
Micrognathia, Increased bone mineral density, Increased susceptibility to fractures, Cerebral dys... ORPHA:763
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, High palate, Short stature, Narrow mouth, Growth delay, Microphthalmia, Microcephaly ORPHA:2528
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... OMIM:612350
Van Maldergem Syndrome 1
Irregular dentition, Micrognathia, Camptodactyly, Sacral dimple, Hypoplasia of the corpus callosu... OMIM:601390
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Dental malocclusion, Camptodactyly of finger, Mandibular prognathia, High palate, ... ORPHA:1327
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Macrocephaly, Dental crowding, ... OMIM:602483
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate, Joint laxity OMIM:619692
Atkin-Flaitz Syndrome
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... OMIM:300431
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Seckel Syndrome 1
Enamel hypoplasia, Dental malocclusion, Abnormally large globe, High palate, Selective tooth agen... OMIM:210600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Lumbar scoliosis, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Micrognathia, H... OMIM:616171
Three M Syndrome 2
Dental malocclusion, Hyperlordosis, High palate, Long philtrum, Short stature, Delayed eruption o... OMIM:612921
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae OMIM:155050
Filippi Syndrome
Decreased body weight, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum,... OMIM:272440
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita OMIM:608931
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex... OMIM:144750
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... ORPHA:329178
Harrod Syndrome
Dental malocclusion, Cerebral cortical atrophy, High palate, Kyphosis, Failure to thrive, Narrow ... ORPHA:2115
Clark-Baraitser syndrome
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... OMIM:300602
Marden-Walker Syndrome
Micrognathia, Camptodactyly, Short neck, Cleft palate, Postnatal growth retardation, Hypoplasia o... OMIM:248700
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Short stature, Failure to thrive, ... OMIM:617883
Intermediate Osteopetrosis
Dental malocclusion, Back pain, Increased susceptibility to fractures, Osteomyelitis, Recurrent f... ORPHA:210110
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Short s... ORPHA:1466
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Short stature, Hypodontia, T... OMIM:253250
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Short stature, Cerebellar hypoplasia, Micrognathia, Joint hypermobili... OMIM:600118
Momo Syndrome
Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Abnormal bone ossific... ORPHA:2563
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Short stature, Widely spaced teeth OMIM:616108
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Mandibular prognathia, High palate, Short stature, Abnormality of dental mor... ORPHA:3079
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Long philtrum, Abnormal bone ossification, Thoracic kyphosis... ORPHA:163649
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Van Maldergem Syndrome 2
Irregular dentition, Dental malocclusion, Sacral dimple, High palate, Wide anterior fontanel, Mic... OMIM:615546
Acrootoocular Syndrome
Dental malocclusion, Short stature, Delayed eruption of teeth, Small for gestational age, Microgn... ORPHA:2980
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Proportionate short stature, ... OMIM:601668
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Small for gestational age, Short philtrum, Abnormal oral frenulum morpho... ORPHA:1617
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Hyperlordosis, Ivory epiphyses of the distal phalanges of the hand, Narrow p... OMIM:190350
Cohen Syndrome
Childhood-onset truncal obesity, Macrodontia of permanent maxillary central incisor, Short statur... OMIM:216550
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Achilles tendon contracture, Joi... OMIM:617258
Frank-Ter Haar Syndrome
Dental malocclusion, Abnormally large globe, High palate, Wide anterior fontanel, Wide mouth, Kyp... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Sacral dimple, Long philtrum, Short stature, Narrow mouth, Thin vermilion bo... OMIM:615502
Pierpont Syndrome
Abnormal cortical gyration, Widely spaced teeth, Small for gestational age, Primary microcephaly,... ORPHA:487825
Craniometadiaphyseal Dysplasia
Abnormally large globe, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth, ... OMIM:269300
Muenke Syndrome
Dental malocclusion, High palate, Capitate-hamate fusion, Coronal craniosynostosis, Macrocephaly,... OMIM:602849
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, High palate, Narrow palate, Wide anterior fontanel, Joint contracture of the... OMIM:182212
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Short stature, Micrognathia, Diastema, Short neck, Malar flattening ORPHA:436245
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Scoliosis, Platysp... OMIM:608940
Dental Anomalies And Short Stature
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... OMIM:601216
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, W... OMIM:616331
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the cervical spine, Kyphosis, ... ORPHA:48431
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Camptoda... OMIM:214150
Gombo Syndrome
Delayed puberty, Microphthalmia, Microcephaly OMIM:233270
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Multiple joint contractures, Short stature, Selective tooth agenesis, Small ... ORPHA:2959
Atkin-Flaitz Syndrome
Short stature, Thick vermilion border, Macrocephaly, Maxillary lateral incisor microdontia, Evert... ORPHA:1193
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Sacral dimple, Foot joint contracture, Congenital finger flexion contracture... ORPHA:166108
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, Cleft palate, Postnat... ORPHA:251028
Seckel Syndrome 2
Short stature, Cerebellar hypoplasia, Small for gestational age, Micrognathia, Microdontia, Micro... OMIM:606744
Pierpont Syndrome
Decreased body weight, Short stature, Prominent median palatal raphe, Widely spaced teeth, Everte... OMIM:602342
Turnpenny-Fry Syndrome
Decreased body weight, Microdontia, Hypoplasia of the primary teeth, Lumbar hyperlordosis, Thorac... OMIM:618371
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Micrognathia, Poorly ossified vertebrae, Epiphyseal stippling, Relative m... OMIM:619135
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Microphthalmia, Microcephaly, Orofacial cleft ORPHA:3434
Momo Syndrome
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... OMIM:157980
Chromosome 16Q22 Deletion Syndrome
High palate, Wide anterior fontanel, Small for gestational age, Micrognathia, Failure to thrive, ... OMIM:614541
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Mandibular prognathia, Short stature, Delayed eruption of teeth, Small for g... OMIM:101800
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Dental malocclusion, Flexion contracture, Wide mouth, Widely spaced teeth, Mic... OMIM:619293
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Selective tooth agenesis, Delayed eruption of... OMIM:305620
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... ORPHA:137888
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age, Median cleft palate ORPHA:2432
Cri-Du-Chat Syndrome
High palate, Small for gestational age, Thick lower lip vermilion, Bifid uvula, Short philtrum, M... OMIM:123450
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Short stature, Small for gestational age, Anal atre... ORPHA:93950
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Global brain atrophy, Wide anterior fontanel, Thick lower lip vermilion,... OMIM:616920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Kabuki Syndrome 2
Dental malocclusion, Decreased body weight, Lower lip pit, High palate, Natal tooth, Short statur... OMIM:300867
Zimmermann-Laband Syndrome
High palate, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromatosis, Macrogloss... ORPHA:3473
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Thin vermilion border, Propo... OMIM:234100
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... ORPHA:364028
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Micrognathia, Microphthalmia, Accessory oral frenulum, Bilateral cleft li... OMIM:619339
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Foot joint contracture, Infancy onset short-trunk short stature, Hypoplasia ... ORPHA:444072
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Long philtrum, Short stature, Everted lower lip vermilion, Th... OMIM:617877
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Microcephaly, Carious teeth OMIM:613680
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, High palate, Kyphosis, Macrocephaly, Hypoplasia of the maxilla, Scoliosis,... OMIM:300676
Microphthalmia, Syndromic 13
Widely-spaced incisors, Short stature, Kyphoscoliosis, Microphthalmia, Microcephaly OMIM:300915
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Midgut malrotation, Aplasia/Hypoplasia of the corpus callosum, Delayed ... ORPHA:2409
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Microphthalmia, Syndromic 8
Cleft upper lip, Mandibular prognathia, Microphthalmia, Widely-spaced maxillary central incisors,... OMIM:601349
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Pr... ORPHA:363417
Maxillonasal Dysplasia
Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi... ORPHA:1248
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... OMIM:618729
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature lo... OMIM:156510
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Wide mouth, Short stature, Lissencephaly, Thin upper lip vermilion, ... OMIM:614583
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Flexion contracture, High palate, Pyloric stenosis, Macrocephaly, Dandy-Walk... OMIM:310400
Oliver Syndrome
Camptodactyly of finger, Dental malocclusion, Knee flexion contracture, Mandibular prognathia, Hi... ORPHA:2920
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Flexion contracture, Limited elbow movement, Short stature, Micrognathia, Mi... OMIM:614008
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Retrognathia, Mild microcephaly, Velopharyngeal i... ORPHA:363444
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Spina bifida occulta, Cleft... OMIM:300373
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... ORPHA:800
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Osteolysis Syndrome, Recessive
Knee flexion contracture, Short stature, Elbow flexion contracture, Hypoplasia of the maxilla, Me... OMIM:259610
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Short stature, Thick lower lip vermilion, Micrognathia, Everted ... ORPHA:85321
Monosomy 18P
Short stature, Micrognathia, Hypodontia, Short philtrum, Downturned corners of mouth, Short neck,... ORPHA:1598
Cardiofaciocutaneous Syndrome 1
Hypoplasia of the frontal lobes, Dental malocclusion, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:115150
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Short neck, T... OMIM:102500
Lujan-Fryns Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, High palate, Micrognathia, Ma... ORPHA:776
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Small for gestational age, Micrognathia, Kyphoscoliosis, Growth delay, M... OMIM:610756
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Cleidocranial Dysplasia 2
Wide anterior fontanel, Delayed eruption of primary teeth, Delayed ossification of carpal bones, ... OMIM:620099
Fetal Alcohol Syndrome
Non-midline cleft lip, Short stature, Micrognathia, Microdontia, Vertebral segmentation defect, B... ORPHA:1915
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... ORPHA:1798
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Hypoplasia of the premax... OMIM:610829
Short Syndrome
Dental malocclusion, Rieger anomaly, Birth length less than 3rd percentile, Delayed eruption of t... OMIM:269880
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microphthalmia, Growth delay, Cerebral atrophy, Microcephaly, Agenesis of corp... OMIM:274270
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Decreased body weig... OMIM:610758
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Short stature, Cerebella... OMIM:616202
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Apert Syndrome
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Megalencephaly, Cl... OMIM:101200
Sandestig-Stefanova Syndrome
Retrognathia, High palate, Primary microcephaly, Small for gestational age, Camptodactyly, Short ... OMIM:618804
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Widely spaced teeth, Micrognathia, Microdontia, Thin corpus callosum, C... OMIM:619694
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Short stature, Macrocephaly, Large for gestational age, Short ne... OMIM:610733
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck, Decreased skul... ORPHA:93267
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Macrocephaly, Notched primary central incisor, Microcephaly, Short stature OMIM:620062
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Microphthalmia, Microcephaly, Cleft palate OMIM:619981
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Dental malocclusion, Bifid tongue, Long philtrum, Kyphosis, Short stature, Microgn... OMIM:616894
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Postnatal growth retardation, Limitation of joint m... OMIM:133540
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Short Stature, Dauber-Argente Type
Short stature, Delayed eruption of teeth, Osteopenia, Microcephaly, Postnatal growth retardation,... OMIM:619489
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Joint contracture of the hand, Camptodactyly, Median cleft lip, Hypo... OMIM:136760
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... ORPHA:352665
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Short stature, Micrognathia, Microdontia, Synostosis of carpal bones, Short neck, Scoli... ORPHA:3191
Multiple Pterygium Syndrome, Escobar Variant
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Microgna... OMIM:265000
Takenouchi-Kosaki Syndrome
Dental malocclusion, Abnormal periventricular white matter morphology, Cerebral cortical atrophy,... OMIM:616737
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microphthalmia, Growth delay, Microcephaly OMIM:278780
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Persistence of p... OMIM:618727
Baraitser-Winter Syndrome 1
Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Short stature, Agenesis of corpus callo... OMIM:243310
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Short stature, Macrocephaly, Hypoplasia of the maxilla, Mic... ORPHA:85279
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Growth delay, Microphthalmia, Microceph... ORPHA:85284
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Progressive microcep... OMIM:618737
Phelan-Mcdermid Syndrome
Sacral dimple, Dental malocclusion, Abnormal periventricular white matter morphology, High palate... OMIM:606232
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion contracture of ... ORPHA:2712
Rubinstein-Taybi Syndrome 1
Flexion contracture, Hyperintensity of cerebral white matter on MRI, Micrognathia, Spina bifida o... OMIM:180849
Lessel-Kreienkamp Syndrome
Dental malocclusion, Open mouth, Thin upper lip vermilion OMIM:619149
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Flexion contracture, Cerebellar hypoplasia, Macroglossia, Microphtha... OMIM:613155
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Micrognathia, Macrocephaly,... ORPHA:1777
Cohen Syndrome
Micrognathia, Tooth agenesis, Gingival overgrowth, Delayed puberty, Microcephaly, Obesity, Intrau... ORPHA:193
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Abnormality of the cervical spine, Long philtrum, Short... ORPHA:915
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... OMIM:615771
Warburg Micro Syndrome 3
Flexion contracture, Narrow palate, Cerebral cortical atrophy, Micrognathia, Downturned corners o... OMIM:614222
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short neck, Thin vermilion border, Sacral dimple, Hemiverte... ORPHA:96121
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Decreased body weight, Short stature, Lissencephaly, Optic nerve hypoplasia,... OMIM:614833
Micro Syndrome
Cerebral cortical atrophy, High palate, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Shor... ORPHA:2510
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Periventricular leukomalacia, Hypoplasia of the maxilla, Microcephaly OMIM:618302
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Microdontia, Radioulnar synostosis, Carpal synostosis, Diastema, Cleft... OMIM:605282
Microphthalmia, Syndromic 2
Flexion contracture, Decreased body weight, Delayed eruption of teeth, Bifid uvula, Phthisis bulb... OMIM:300166
Stickler Syndrome Type 1
Long philtrum, Hypoplasia of the maxilla, Joint hyperflexibility, Platyspondyly, Cleft palate, Ab... ORPHA:90653
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Short stature, Small for gestational age, Micrognathia, Pyloric stenosis, Bifid uvul... ORPHA:96184
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate OMIM:246560
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro... ORPHA:97360
Congenital Myopathy 17
Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, High palate, Long philtrum, Te... OMIM:618975
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Small for gestational age, Hypoplasia of the maxilla, Failure to thrive, Osteopeni... OMIM:608154
Microphthalmia With Limb Anomalies
Retrognathia, Sacral dimple, Cleft upper lip, High palate, Anophthalmia, Deep philtrum, Capitate-... OMIM:206920
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Short stature, Abnormality of the dentition ORPHA:2776
Au-Kline Syndrome
Retrognathia, Dental malocclusion, Sacral dimple, Thoracolumbar scoliosis, Bifid tongue, High pal... OMIM:616580
Hamamy Syndrome
Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Recurrent fractur... OMIM:611174
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Short stature, Microdontia, Po... ORPHA:50814
Ring Chromosome 10 Syndrome
Long philtrum, Micrognathia, Aganglionic megacolon, Cachexia, Short neck, Microphthalmia, Thin ve... ORPHA:1438
Elsahy-Waters Syndrome
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Abno... OMIM:211380
Spondyloenchondrodysplasia
Dental malocclusion, Abnormal periventricular white matter morphology, Kyphosis, Juvenile rheumat... ORPHA:1855
Osteogenesis Imperfecta
Flexion contracture, Delayed eruption of teeth, Micrognathia, Intestinal obstruction, Abnormal fo... ORPHA:666
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... OMIM:166220
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... OMIM:618067
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Atelosteogenesis, Type Iii
Horizontal sacrum, Rhizomelia, Micrognathia, Cervical kyphosis, Hypoplasia of the maxilla, Cervic... OMIM:108721
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia OMIM:615524
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Microphthalmia, Microcephaly, Cleft palate, Hypoplasia of teeth... ORPHA:2728
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Mandibular prognathia, Irregul... OMIM:231070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Rectal prolapse, Narrow palate, Joint contracture of the hand, Delayed eruption of ... OMIM:235510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Micrognathia, Bifid uvula, Patchy osteosclerosis, Thin upper lip vermilion, Microp... OMIM:241410
Faciocardiomelic Syndrome
Dental malocclusion, Thin bony cortex, Long philtrum, Wide mouth, Micrognathia, Cuboid-shaped ver... OMIM:612731
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Cleft palate, C... ORPHA:2117
Sclerosteosis 1
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Scler... OMIM:269500
Hydrolethalus
Retrognathia, Anophthalmia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous... ORPHA:2189
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Macrocephaly, Hypoplasia of the maxilla, Obesity ORPHA:397973
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Deep philtrum, Macrocephaly, Short philtrum, Joint laxity, Scoliosis, Smooth philtr... OMIM:620098
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Abnormal form ... ORPHA:192
Microcephaly-Capillary Malformation Syndrome
Short stature, Small for gestational age, Hypoplasia of the maxilla, Failure to thrive, Progressi... OMIM:614261
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low... ORPHA:364577
Cockayne Syndrome A
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... OMIM:216400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Hyperextensibility at wrists, Flexion contracture, High palate, Long philtr... ORPHA:481152
3Q29 Microduplication Syndrome
High palate, Deep philtrum, Ectopic anus, Camptodactyly of toe, Biparietal narrowing, Macrocephal... ORPHA:251038
Spondylo-Ocular Syndrome
Long philtrum, Short stature, Thoracic kyphosis, Abnormal intervertebral disk morphology, Short n... ORPHA:85194
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Mend Syndrome
Sacral dimple, High palate, Wide anterior fontanel, Kyphosis, Short stature, Micrognathia, Asymme... ORPHA:401973
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Delayed eruption of teeth, Micrognathia, Camptodactyly, Gingival overgrowth,... OMIM:619148
Marshall Syndrome
Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla... OMIM:154780
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Humeroradial synostosis, Simplified gyral pattern, Mic... OMIM:251230
Localized Scleroderma
Dental malocclusion, Flexion contracture, Arthritis, Abnormal upper lip morphology, Abnormal bone... ORPHA:90289
Coffin-Lowry Syndrome
Dental malocclusion, Mandibular prognathia, Decreased body weight, Narrow palate, High palate, Wi... OMIM:303600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Abnormal periventricular white matter morphology, Flexion contracture, Long ... ORPHA:487796
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema, Microphth... OMIM:302350
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High palate, Kyphosis, Short philtrum, Everted lower lip vermilion, Tented upper li... OMIM:616449
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, High palate, Short stature, Prominent frontal sinuses, Micrognathia, Oligodont... OMIM:170390
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Short stature, Ankyloglossia, Macrocephaly, Polymicrogyria, Unila... OMIM:618874
Joubert Syndrome 37
High palate, Short stature, Cerebellar vermis hypoplasia, Joint hypermobility, Microphthalmia, Hy... OMIM:619185
Cherubism
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Alveolar ridge overgrowth, Multipl... OMIM:118400
Xk Aprosencephaly Syndrome
Microphthalmia, Narrow mouth, Anal atresia, Microcephaly ORPHA:3469
Cockayne Syndrome
Abnormal number of teeth, Primary microcephaly, Cachexia, Postnatal growth retardation, Abnormali... ORPHA:191
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Short stature, Osteopetrosis, Cerebral calcification, Diaphyseal sclerosis, ... OMIM:259730
20P12.3 Microdeletion Syndrome
Long philtrum, Short stature, Macrocephaly, Hypoplasia of the maxilla, Narrow mouth, Malar flatte... ORPHA:261295
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Short stature, Vertebral segmen... OMIM:612530
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Short neck, Microphthalmia, Microcephaly, Cleft palate OMIM:613885
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Decreased body weight, Short stature, Short philtrum, Hypoplasia of the ma... ORPHA:93945
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Long philtrum, Submucous cleft hard palate, Limitation of joint mobility... ORPHA:178303
Carpenter Syndrome 1
Sacral dimple, Sagittal craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, High palate,... OMIM:201000
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Pyloric stenosis, Eclabion, Failure to thrive, Meckel diverticulum, M... OMIM:616395
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Dela... ORPHA:568
Aarskog-Scott Syndrome
Cleft upper lip, Hyperextensibility of the finger joints, Short stature, Hypodontia, Hypoplasia o... OMIM:305400
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Vertebral fusion, High palate, Narrow palate, Wide mouth, Deep philtrum, Cam... OMIM:227330
Congenital Varicella Syndrome
Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly ORPHA:291
Martsolf Syndrome 1
High palate, Long philtrum, Finger joint hypermobility, Short stature, Lumbar hyperlordosis, Micr... OMIM:212720
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Hypoplasia of the maxilla, Metacarpal osteolysis, Osteopenia... OMIM:166300
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Hypoplasia of the corpus callosum, Cle... OMIM:164180
Trisomy 13
Long philtrum, Kyphosis, Anophthalmia, Aplasia/Hypoplasia of the iris, Median cleft lip, Scoliosi... ORPHA:3378
Moebius Syndrome
Hypoplasia of the brainstem, High palate, Micrognathia, Bifid uvula, Camptodactyly, Short neck, M... OMIM:157900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Deep philtrum, Kyphosis, Micrognathia, Bifid uvula, Abnormal oral frenulum morphol... ORPHA:404440
Peters-Plus Syndrome
Decreased body weight, Short lingual frenulum, Micrognathia, Short neck, Conical incisor, Cleft p... OMIM:261540
3P25.3 Microdeletion Syndrome
Sacral dimple, Knee flexion contracture, Mandibular prognathia, Deep philtrum, Micrognathia, Pylo... ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Decreased body weight, High palate, Flexion contracture, Short stature, Mi... OMIM:300534
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Recurrent fractures, Kyphosis, Short stature, Coronal cra... OMIM:616294
Martin-Probst Syndrome
Dental malocclusion, Wide mouth, Short stature, Thick lower lip vermilion, Micrognathia, Microcep... OMIM:300519
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Postnat... OMIM:619184
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Irregular vertebral endplates, Long philtrum, Micrognathia, Short philtrum... ORPHA:439822
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Joint laxity, Microphthalmia, Megalencephaly, Smooth philtrum, Progressi... OMIM:602501
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Short stature, Tongue nodules, Micrognathia, Porence... OMIM:252100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Microcephaly, Pac... OMIM:251270
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Joint contracture of the hand, Micrognathia, Camptodactyly, Malar flattening OMIM:608257
Barber-Say Syndrome
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W... OMIM:209885
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Duodenal stenosis, Microphth... ORPHA:2547
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Short stature, Microdontia, Macrocephaly, Microretrognathia, Hypoplasia of the maxil... ORPHA:1307
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Short stature, Inferior cerebellar vermis hypoplasia, Microretrogna... OMIM:618571
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Natal tooth, Micrognathia, Anal atresia, Esophageal diverticulum, Short n... OMIM:617925
Mccune-Albright Syndrome
Dental malocclusion, Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal ... ORPHA:562
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Wide mouth, Short stature, Cerebellar hypoplasia, Micrognathia, Short philtrum, Micro... ORPHA:163966
Tetrasomy 5P
High palate, Long philtrum, Wide anterior fontanel, Cerebellar hypoplasia, Micrognathia, Macrocep... ORPHA:3309
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Lissencephaly, Microphthalmia, Mic... ORPHA:1528
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Macrocephaly, Hypoplasia of the maxilla, Abnormality of the verteb... OMIM:109120
Congenital Toxoplasmosis
Cerebral calcification, Microphthalmia, Microcephaly, Failure to thrive in infancy, Intrauterine ... ORPHA:858
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, Cerebellar vermis hypoplasia, Joint hypermobility, Thin upper lip vermilion, Anter... OMIM:618494
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Bifid tongue, Hypoplastic fro... ORPHA:391474
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, High palate, Hypoplasia of the maxilla, Scoliosis, Diffuse white matter abno... OMIM:218000
Weill-Marchesani Syndrome 1
Thin bony cortex, Tooth malposition, Narrow palate, Short stature, Abnormality of dental morpholo... OMIM:277600
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft OMIM:611638
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Tarsal stippling, Failure to thrive,... OMIM:302960
Angelman Syndrome
Mandibular prognathia, Cerebral cortical atrophy, Wide mouth, Widely spaced teeth, Macroglossia, ... OMIM:105830
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... OMIM:616367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, High palate, Thin upper lip vermilion, Microcephaly, Tented upper lip vermil... ORPHA:438216
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... OMIM:200990
Crouzon Syndrome
Narrow palate, Cerebellar hypoplasia, Abnormal sacrum morphology, Hypoplasia of the maxilla, Mult... ORPHA:207
Fryns Microphthalmia Syndrome
Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, High palate, Short stature, Neuropathic spinal arthropathy, Epiphyseal stipp... ORPHA:35173
Temtamy Syndrome
Long philtrum, Micrognathia, Thick corpus callosum, Microphthalmia, Dental crowding, Hypoplasia o... OMIM:218340
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Retrognathia, Dental malocclusion, High palate, Bifid uvula, Joint laxity, Microphthalmia, Malar ... OMIM:601552
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Treacher-Collins Syndrome
Micrognathia, Tooth agenesis, Abnormality of bone mineral density, Cleft palate, Glossoptosis, Ab... ORPHA:861
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Wide anterior fontanel, Gingival hyperkeratosis, Short stature, Micrognathia, Hypodontia, Joint l... OMIM:225410
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Short stature, Micrognathia, Osteopenia, Microcephaly, Intrauterine growth... OMIM:608747
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Accessory oral fr... ORPHA:79113
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental malocclusion, Talon cusp, Narrow palate, Abnormality of the cervical spine, Natal tooth, S... ORPHA:353281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Flexion contracture, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:615249
Meier-Gorlin Syndrome 5
Long philtrum, Birth length less than 3rd percentile, Short stature, Micrognathia, Submucous clef... OMIM:613805
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... OMIM:218670
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, High palate, Microphthalmia, Cleft palate ORPHA:1135
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Delayed eruption of teeth, Micrognathia, Metacarpal ... OMIM:259600
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Micrognathia, Macrocephaly, Microcephaly, Microphthalmia, Cerebral atrophy... OMIM:614219
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Macrocephaly, Osteopetrosis, Microphthalmia OMIM:617306
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Microphthalmia, Macrocephaly at birth, Orofacial cleft ORPHA:324416
Nanophthalmos
Microphthalmia ORPHA:35612
Acrodysostosis
Mandibular prognathia, Short stature, Delayed eruption of teeth, Epiphyseal stippling, Spinal can... ORPHA:950
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Microphthalmia, Scoliosis, Hypoplasia of the corpus callosum, Intrauterine growth r... ORPHA:494344
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Long philtrum, Deep philtrum, Thick lower lip vermilion, Simplified gyral ... OMIM:152950
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Carious teeth OMIM:614564
Keipert Syndrome
Short stature, Macrocephaly, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated c... ORPHA:2662
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal sacrum morphology, Hypoplasia of the maxilla, Abno... ORPHA:93262
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Microphthalmi... ORPHA:306542
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Long philtrum, Short stature, Micrognathia, Spinal canal st... ORPHA:2323
Galloway-Mowat Syndrome 3
High palate, Short stature, Simplified gyral pattern, Micrognathia, Camptodactyly, Lissencephaly,... OMIM:617729
Nance-Horan Syndrome
Microphthalmia, Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Fontaine Progeroid Syndrome
Microdontia, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Narrow mouth, Microcepha... OMIM:612289
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Thin corpus callosum, Short philtrum, Microphthalmia, Microcephaly, H... OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Polymicrogyria, ... ORPHA:370959
Skin Creases, Congenital Symmetric Circumferential, 1
High palate, Long philtrum, Micrognathia, Narrow mouth, Short neck, Microphthalmia, Microcephaly,... OMIM:156610
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Bifid tongue, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Hypoplastic facia... OMIM:616300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
3Q29 Microdeletion Syndrome
High palate, Macrocephaly, Short philtrum, Everted lower lip vermilion, Failure to thrive, Joint ... ORPHA:65286
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, High palate, Wide mouth, Widely spaced teeth, Short stature, Camptodactyly... ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Agenesis of... OMIM:613153
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Tracheoesophageal fistula, Microphthalmia, Cortical dysplasia, Cle... ORPHA:261272
Oculodentodigital Dysplasia
Enamel hypoplasia, Cleft upper lip, High palate, Vertebral hyperostosis, Selective tooth agenesis... OMIM:164200
Lissencephaly 8
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... OMIM:617255
Fanconi Anemia, Complementation Group G
Microphthalmia, Growth delay, Microcephaly OMIM:614082
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Microphthalmia, Cleft lip, Cleft pa... OMIM:603457
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,... OMIM:241310
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Short stature, Anal atresia, Unilateral microphthalmos, Bilateral microphthalmos, ... OMIM:619318
Premature Aging Syndrome, Penttinen Type
Retrognathia, Recurrent fractures, Delayed eruption of teeth, Micrognathia, Narrow philtrum, Macr... OMIM:601812
Cerebrofacioarticular Syndrome
Irregular dentition, Short stature, Micrognathia, Caudal appendage, Agenesis of corpus callosum, ... ORPHA:314679
3Mc Syndrome 1
Sacral dimple, Cleft upper lip, Wide anterior fontanel, Coronal craniosynostosis, Caudal appendag... OMIM:257920
Walker-Warburg Syndrome
Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, Bifid uvula, Submuco... ORPHA:899
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Coronal craniosynostosis, Agenesis of corpus callosum, Microphthalmia, Agenesis of... ORPHA:228390
Andersen-Tawil Syndrome
High palate, Short stature, Micrognathia, Oligodontia, Joint laxity, Hypoplasia of the maxilla, T... ORPHA:37553
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Dental malocclusion, Camptodactyly of finger, High palate, Bifid uvula, Joint laxit... ORPHA:284984
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microphthalmia,... OMIM:234050
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Short stature, Thick lower lip vermilion, Micrognathia, Hy... OMIM:613804
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Mandibular prognathia, Kyphosis, Short philtrum, Everted lower lip vermilion, Tente... ORPHA:464738
Galloway-Mowat Syndrome 1
Hypoplasia of the brainstem, High palate, Wide mouth, Joint contracture of the hand, Small for ge... OMIM:251300
Cowden Syndrome 5
High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth... OMIM:615108
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Micrognathia, Recurrent sinusitis, Short neck, Beaking of vertebral bodies, Cleft palate, Gingiva... OMIM:213980
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Short stature, Microdontia, Hypodontia, Bifid ... OMIM:129400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hypoplasia of the brainstem, Cerebellar hypoplasia, Spinal rigidity, Macroglossi... OMIM:613150
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Hyperlordosis, Long philtrum, Micrognathia, Maxillary lateral incisor microd... ORPHA:73223
Warburg Micro Syndrome 4
Flexion contracture, Cerebral cortical atrophy, Long philtrum, Short stature, Perisylvian polymic... OMIM:615663
Distal Xq28 Microduplication Syndrome
High palate, Short stature, Short lingual frenulum, Thick lower lip vermilion, Hypoplasia of the ... ORPHA:293939
Biemond Syndrome Type 2
Delayed puberty, Obesity, Microphthalmia, Short stature ORPHA:141333
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Dental malocclusion, Microretrognathia OMIM:615560
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Short stature, Intrauterine growth retardation ORPHA:195
Craniosynostosis And Dental Anomalies
Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, Narrow palate, High palate... OMIM:614188
Marshall Syndrome
Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Short stature... ORPHA:560
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger joints, Microgn... OMIM:309520
Chromosome 8Q21.11 Deletion Syndrome
High palate, Micrognathia, Short philtrum, Camptodactyly, Downturned corners of mouth, Short neck... OMIM:614230
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Short stature, Delayed eruption of teeth, Small for gestation... OMIM:268400
Crouzon Syndrome
Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the cervical spine,... OMIM:123500
Williams Syndrome
Peptic ulcer, Cerebral cortical atrophy, Colonic diverticula, Aplasia/Hypoplasia of the iris, Mic... ORPHA:904
Focal Dermal Hypoplasia
Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Anophthalmia, Short stature, Delayed eru... OMIM:305600
Joubert Syndrome 14
Hypoplasia of the brainstem, Short philtrum, Tented upper lip vermilion, Growth delay, Microphtha... OMIM:614424
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Hypoplasia of the frontal lobes, Multiple joint contractures, Lissenceph... ORPHA:468631
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Short stature, Micrognathia, Microphthalmia, Microcephaly, Cleft palate ORPHA:2505
Noonan Syndrome 1
Dental malocclusion, High palate, Short stature, High, narrow palate, Micrognathia, Synovitis, Ky... OMIM:163950
Stevenson-Carey Syndrome
Pierre-Robin sequence, Joint contracture of the hand, Cerebellar hypoplasia, Camptodactyly, Downt... OMIM:611961
Dubowitz Syndrome
Sacral dimple, High palate, Short stature, Delayed eruption of teeth, Micrognathia, Velopharyngea... OMIM:223370
Ohdo Syndrome, X-Linked
Decreased body weight, High palate, Long philtrum, Widely spaced teeth, Micrognathia, Microdontia... OMIM:300895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furr... OMIM:608670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Joint contractu... OMIM:618914
Microphthalmia With Limb Anomalies
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Short stature, Microgn... ORPHA:1106
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of pineal gland, Microphthalmia, Cleft palate, Agenesis of corpus callosum OMIM:614402
Hallermann-Streiff Syndrome
Recurrent fractures, Natal tooth, Cerebellar hypoplasia, Micrognathia, Supernumerary tooth, Trach... ORPHA:2108
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth ORPHA:1529
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hypoplasia of the corpus callosum, Open mouth, Macrodontia of permanent maxillary central incisor... OMIM:620114
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal corpus callosum morphology, Postnatal growth retardation, Talon cusp, Narr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal corpus callosum morphology, Postnatal growth retardation, Talon cusp, Narr... ORPHA:353277
Stromme Syndrome
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Micrognathia, Optic nerve hypoplasia, Intesti... OMIM:243605
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower lip vermilion, Hypoplasia ... ORPHA:782
Mosaic Trisomy 9
Camptodactyly of finger, High palate, Micrognathia, Biparietal narrowing, Limitation of joint mob... ORPHA:99776
Cowden Syndrome 6
High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth... OMIM:615109
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, High palate, Micrognathia, Sh... ORPHA:284160
Cousin Syndrome
Anterior rounding of vertebral bodies, Wrist flexion contracture, Rhizomelia, Humeroradial synost... OMIM:260660
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Long philtrum, Deep philtrum, Kyphosis, Short... ORPHA:251014
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormality of the cervical spine, Abnormality of the vertebral spinous pr... ORPHA:1299
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Micrognathia, Microphthalmia, Smooth philtrum OMIM:614526
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Intestinal malrotation, ... OMIM:244300
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Short stature, Micrognathia, Neona... ORPHA:2839
Ellis Van Creveld Syndrome
Capitate-hamate fusion, Delayed eruption of teeth, Microdontia, Hypodontia, Synostosis of carpal ... ORPHA:289
Mosaic Trisomy 1
Short upper lip, Camptodactyly of finger, Thoracic scoliosis, Wide mouth, Cerebellar hypoplasia, ... ORPHA:1692
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Microphthalmia, Malar flattening, O... OMIM:229400
Meckel Syndrome, Type 4
Anencephaly, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Cleft palate, Agene... OMIM:611134
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Macrocephaly, Decreased skull ossification, Microphthalmia, Platyspond... OMIM:300863
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Global brain atrophy, Growth delay, Microcephaly OMIM:308350
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia, Microcephaly, Severe postnat... ORPHA:2399
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Long philtrum, Kyphosis, Delayed eruption of teeth, Macroceph... ORPHA:77301
Zttk Syndrome
Flexion contracture, Bifid uvula, Intestinal atresia, Abnormal cerebral white matter morphology, ... OMIM:617140
Myhre Syndrome
Camptodactyly, Short neck, Cleft palate, Vertebral fusion, Birth length less than 3rd percentile,... OMIM:139210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Neonatal death, Microphthalmia, Cerebellar hypoplasia OMIM:613730
Nanophthalmos 4
Microphthalmia OMIM:615972
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Decreased body weight, Short stature, Micrognathia, Hypoplasia of the maxilla, Apla... OMIM:616462
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Ear-Patella-Short Stature Syndrome
Retrognathia, Camptodactyly of finger, Mandibular aplasia, Craniosynostosis, Micrognathia, Bifid ... ORPHA:2554
Solitary Median Maxillary Central Incisor
Cleft upper lip, Anophthalmia, Short stature, Prominent median palatal raphe, Torus palatinus, So... OMIM:147250
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Fryns Syndrome
Non-midline cleft lip, Cerebral cortical atrophy, High palate, Long philtrum, Wide mouth, Ectopic... ORPHA:2059
Shprintzen-Goldberg Syndrome
Retrognathia, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla,... ORPHA:2462
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Short stature, Joint laxity, Osteopenia, Microphthalmia, O... ORPHA:2788
Fanconi Anemia, Complementation Group I
Decreased body weight, Short stature, Fused cervical vertebrae, Optic nerve hypoplasia, Short nec... OMIM:609053
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Kyphoscoliosis, Macrodontia of permanent maxillary central incisor ORPHA:466722
Weill-Marchesani Syndrome 2
Thin bony cortex, High palate, Narrow palate, Short stature, Lumbar hyperlordosis, Broad skull, A... OMIM:608328
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur... OMIM:166200
Apert Syndrome
Mandibular prognathia, Narrow palate, Ectopic anus, Delayed eruption of teeth, Esophageal atresia... ORPHA:87
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Microphthalmia, Cerebellar hypoplasia OMIM:614830
Aicardi Syndrome
Aplasia/Hypoplasia of the cerebellum, Cleft upper lip, Block vertebrae, Malabsorption, Short phil... ORPHA:50
Fraser Syndrome
Dental malocclusion, Cleft upper lip, Bifid tongue, High palate, Ectopic anus, Anophthalmia, Vert... ORPHA:2052
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of ... OMIM:109400
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Micrognathia, Epiphyseal stippling, Hypoplastic ve... OMIM:215140
1Q21.1 Microdeletion Syndrome
High palate, Long philtrum, Short stature, Ankyloglossia, Failure to thrive, Scoliosis, Joint hyp... ORPHA:250989
Aicardi Syndrome
Cleft upper lip, Cavum septum pellucidum, Block vertebrae, Prominence of the premaxilla, Butterfl... OMIM:304050
Cowden Syndrome 1
Hemimegalencephaly, High palate, Colonic diverticula, Kyphosis, Micrognathia, Hypoplasia of the m... OMIM:158350
Nager Syndrome
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... ORPHA:245
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Trichothiodystrophy 1, Photosensitive
Retrognathia, Flexion contracture, Short stature, Small for gestational age, Malabsorption, Intes... OMIM:601675
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Stickler Syndrome
Micrognathia, Cachexia, Tooth agenesis, Slender build, Cleft palate, Glossoptosis, Abnormal form ... ORPHA:828
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Anal atresia, Anteriorly placed anus, Microphthalmia, Microcephaly, Intrauterine gr... ORPHA:1352
Pfeiffer Syndrome
Mandibular prognathia, High palate, Humeroradial synostosis, Coronal craniosynostosis, Elbow anky... OMIM:101600
Kapur-Toriello Syndrome
Polymicrogyria, Intestinal malrotation, Failure to thrive, Short neck, Microphthalmia, Pachygyria... ORPHA:2328
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Inferior cerebellar vermis hypoplasia, Microphthalmia, Microcephaly, A... ORPHA:139471
Teebi-Shaltout Syndrome
Wide mouth, High, narrow palate, Short stature, Oligodontia, Caudal appendage, Camptodactyly, Nar... OMIM:272950
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Micrognathia, Anal atresia, Narrow mouth, Microphthalmia, Abnormally ossif... ORPHA:3301
Roberts Syndrome
Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, High palate, Micrognathia, ... ORPHA:3103
Saethre-Chotzen Syndrome
Hyperlordosis, Narrow palate, Short stature, Hypoplasia of the maxilla, Scoliosis, Cleft palate, ... ORPHA:794
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Narrow... ORPHA:3380
Congenital Rubella Syndrome
Short stature, Aplasia/Hypoplasia of the iris, Microphthalmia, Microcephaly, Intrauterine growth ... ORPHA:290
Autosomal Dominant Kenny-Caffey Syndrome
Calvarial osteosclerosis, Short stature, Cortical thickening of long bone diaphyses, Bilateral mi... ORPHA:93325
Joubert Syndrome 22
Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Agenesis of cerebel... OMIM:615665
Carpenter Syndrome 2
Retrognathia, Dental malocclusion, Knee flexion contracture, Narrow palate, High palate, Long phi... OMIM:614976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Optic nerve hypoplasia, ... OMIM:615181
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, M... ORPHA:1942
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Meier-Gorlin Syndrome 1
Flexion contracture, High palate, Joint contracture of the hand, Birth length less than 3rd perce... OMIM:224690
Fraser Syndrome 1
Difficulty in tongue movements, Cleft upper lip, Dental malocclusion, Abnormal small intestine mo... OMIM:219000
Nablus Mask-Like Facial Syndrome
Retrognathia, High palate, Long philtrum, Joint contracture of the hand, Camptodactyly, Everted l... OMIM:608156
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Short stature, Joint hypermobili... ORPHA:2714
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, Bu... ORPHA:534
Myhre Syndrome
Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard... ORPHA:2588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Hypoplasia of the brainstem, Cerebellar hypoplasia, Micrognathia, Agyria, Agenes... OMIM:236670
Gracile Bone Dysplasia
Short stature, Ankyloglossia, Failure to thrive, Decreased skull ossification, Microphthalmia, An... OMIM:602361
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinence... OMIM:617914
Holoprosencephaly
Median cleft lip, Short neck, Tooth agenesis, Intestinal atresia, Abnormal form of the vertebral ... ORPHA:2162
Cardioacrofacial Dysplasia 1
Conical tooth, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral frenulum OMIM:619142
Frontofacionasal Dysplasia
Non-midline cleft lip, Short stature, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia o... ORPHA:1791
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Mandibular prognathia, Hypodontia, Abnormal palate morphology, ... ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Short stature, Micrognathia, Broad alveolar ridges, Macrocephaly, Hypoplastic anteri... OMIM:616975
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, H... ORPHA:2250
Vacterl With Hydrocephalus
Retrognathia, Anophthalmia, Esophageal atresia, Absence of the sacrum, Micrognathia, Arrhinenceph... ORPHA:3412
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Ctcf-Related Neurodevelopmental Disorder