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 3.90×10-07
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 fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

VIP of left eye

16 Images

MicroCT E18.5

Embryo reconstruction

7 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
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Kyphoscoliosis, Joint hypermobility, Macrocephaly, Short s... OMIM:608545
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Micrognathia, Hyp... OMIM:610883
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Cachexia, Short stature... ORPHA:2471
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:616570
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, High palate, Relative macrocephaly, Mandibular prognathia, Mild short stature OMIM:618292
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open b... ORPHA:61
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Microgna... OMIM:613684
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis... OMIM:615314
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami OMIM:141300
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Microcephaly, Dental malocclusion, Kyphoscoliosis OMIM:615541
Intellectual Disability And Myopathy Syndrome
Scoliosis, Dental malocclusion, Lumbar hyperlordosis, Limited elbow extension, Periventricular wh... OMIM:619719
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Short stature, Scoliosis, Mandibular prognathi... ORPHA:1858
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of primary teeth, High palate, Cerebral dysmyelinat... ORPHA:763
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Narrow mouth, Microcephaly, Microphthalmia, Short stature, High palate, Growth delay ORPHA:2528
Van Maldergem Syndrome 1
Micrognathia, Irregular dentition, Hypoplasia of the corpus callosum, Anal atresia, High palate, ... OMIM:601390
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Bifid uvula, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delay... OMIM:612350
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Ant... OMIM:602483
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Abnormal form of the vertebral bodies, Camptoda... ORPHA:1327
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Joint hypermobility OMIM:619692
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Corti... ORPHA:210110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Thoracic... OMIM:616171
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Abnormally large globe, Dental malocclusion, Dental crowding, Selec... OMIM:210600
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Three M Syndrome 2
Severe short stature, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Lumbar hyper... OMIM:612921
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Postnatal growth retardation, Intrauterine growth ... OMIM:272440
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Failure to thrive, Contractures of the large joints, Micrognathi... ORPHA:329178
Harrod Syndrome
Cerebral cortical atrophy, Dental malocclusion, Failure to thrive, Intrauterine growth retardatio... ORPHA:2115
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Fanconi Anemia, Complementation Group S
Dental malocclusion, Failure to thrive, Thick upper lip vermilion, Macrodontia, Microcephaly, Mic... OMIM:617883
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Joint contracture of the hand, Postnatal growth retardatio... OMIM:248700
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Micrognathia, Joint s... ORPHA:1466
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Failure to thrive, Cerebral atrophy, Micrognathia, Narrow mouth, Hy... OMIM:600118
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperos... OMIM:144750
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth retardation, Absent front... OMIM:253250
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Cuboid-shaped thoracolumbar vertebral bodies, Dental malocclusion, Open bi... ORPHA:3079
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Downturned corners of mouth, Long philtrum, Micrognathia, Delayed p... ORPHA:163649
Van Maldergem Syndrome 2
Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Anterior... OMIM:615546
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Failure to thrive, Micrognat... ORPHA:2980
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Dist... OMIM:617258
Muenke Syndrome
Coronal craniosynostosis, Capitate-hamate fusion, Dental malocclusion, Malar flattening, Macrocep... OMIM:602849
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Sacral dimple,... OMIM:616331
Pierpont Syndrome
Abnormal cortical gyration, Widely spaced teeth, Microphthalmia, Malar flattening, Joint hypermob... ORPHA:487825
Frank-Ter Haar Syndrome
Osteopenia, Abnormally large globe, Dental malocclusion, Kyphosis, Growth delay, Cortical irregul... OMIM:249420
2Q24 Microdeletion Syndrome
Failure to thrive, Camptodactyly of finger, Abnormal oral frenulum morphology, Short neck, Microp... ORPHA:1617
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Sacral dimple, Narrow mouth, Microcephaly, Thin vermilion border, Incisor macrodon... OMIM:615502
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Seckel Syndrome 2
Microglossia, Basal ganglia calcification, Micrognathia, Microdontia, Cerebellar hypoplasia, Micr... OMIM:606744
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Abnormally lar... OMIM:269300
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Dental malocclusion, Ost... OMIM:182212
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Malar prominence, Intrauterine growth retardation, Micrognathia, Micro... ORPHA:48431
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle... OMIM:601216
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Basal ganglia calcification, Micrognathia, Agenesis... OMIM:214150
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Osteopenia, Dental malocclusion, Selective tooth agenesis, Micrognathia, Multiple jo... ORPHA:2959
Pierpont Syndrome
Failure to thrive, Widely spaced teeth, Prominent median palatal raphe, Malar flattening, Decreas... OMIM:602342
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Micrognathia, Narrow mouth, Short neck, High palate, Pierre-Robin s... ORPHA:251028
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Turnpenny-Fry Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, Decreased body weight, High palate, Thoracic kyp... OMIM:618371
Atkin-Flaitz Syndrome
Abnormality of the dentition, Macrocephaly, Obesity, Everted lower lip vermilion, Thick vermilion... ORPHA:1193
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anophthalmia, Bilateral cleft palate, Short hard palate, Short neck... OMIM:610829
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Ivory e... OMIM:190350
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Diastema, Micrognathia, Malar flattening, Short neck, Short stature ORPHA:436245
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Postnatal growth retardation, Micrognathia, Epiphyseal stippling, P... OMIM:619135
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Disproportionate short... OMIM:101800
Chromosome 16Q22 Deletion Syndrome
Failure to thrive, Postnatal growth retardation, Micrognathia, Microcephaly, Short neck, High pal... OMIM:614541
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity... OMIM:157980
X-Linked Intellectual Disability Due To Gria3 Mutations
Cerebellar vermis hypoplasia, Macrodontia of permanent maxillary central incisor, Narrow palate, ... ORPHA:364028
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Hig... OMIM:305620
Mmep Syndrome
Median cleft upper lip, Microcephaly, Orofacial cleft, Microphthalmia, Mandibular prognathia ORPHA:3434
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Dental malocclusion, Hypoplasia of the pons, Widely spaced teeth, Exaggerated cupid's ... OMIM:619293
Cri-Du-Chat Syndrome
Bifid uvula, Microretrognathia, Growth delay, Downturned corners of mouth, Thick lower lip vermil... OMIM:123450
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Anophthalmia, Neonatal death, Microphthalmia,... OMIM:615524
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Microphthalmia, High palate... OMIM:234100
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased body weight, Microcephaly, Short stature, Anal atresia, Mand... ORPHA:93950
Bartsocas-Papas Syndrome 2
Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Wide anterior fontanel... OMIM:619339
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Median cleft palate, Microphthalmia ORPHA:2432
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Cerebellar-Facial-Dental Syndrome
Severe short stature, Macrodontia of permanent maxillary central incisor, Inferior cerebellar ver... ORPHA:444072
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Long philtrum, Spondylolisthesis, Thin upper lip vermilion, Everted ... OMIM:617877
Heart And Brain Malformation Syndrome
High, narrow palate, Cerebellar vermis hypoplasia, Global brain atrophy, Cleft lip, Cerebral atro... OMIM:616920
Zimmermann-Laband Syndrome
Bifid uvula, Growth delay, Micrognathia, Wide mouth, Supernumerary tooth, Joint hypermobility, Hy... ORPHA:3473
Kabuki Syndrome 2
Natal tooth, Dental malocclusion, Postnatal growth retardation, Intrauterine growth retardation, ... OMIM:300867
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Slender build, Macrocephaly, High palate, Scoliosis, Mandibular progna... OMIM:300676
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Microcephaly OMIM:613680
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Dental crowding, Failure to thrive, Growth delay, Patholo... OMIM:614008
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy distortion of vertebrae, Microdontia... ORPHA:1248
Microphthalmia, Syndromic 13
Kyphoscoliosis, Microcephaly, Microphthalmia, Short stature, Widely-spaced incisors OMIM:300915
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Growth delay, Downturned corners of m... ORPHA:2409
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Microcephaly, Orofacial cleft, Microph... OMIM:601349
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Cerebral atrophy... OMIM:618729
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Thin vermilion bord... OMIM:156510
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Secondary microcephaly, Agenesis of corpus callosum, Thin upper lip ... OMIM:614583
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Oliver Syndrome
Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Intrauterine growth reta... ORPHA:2920
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Macrocephaly, High palate, Flexion contracture, Dandy-Walker malformation, P... OMIM:310400
Schwartz-Jampel Syndrome
Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Decreased body weight, Cachexia, Short ... ORPHA:800
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Micrognathia, Anal atresia, High palate, Pierre-Robin... OMIM:300373
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar... ORPHA:85321
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Micr... ORPHA:1598
Hajdu-Cheney Syndrome
Micrognathia, Narrow mouth, Absent frontal sinuses, Short neck, High palate, Osteopenia, Tall lum... OMIM:102500
Cardiofaciocutaneous Syndrome 1
Cerebral cortical atrophy, Abnormality of the dentition, Osteopenia, Dental malocclusion, Failure... OMIM:115150
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t... ORPHA:776
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Kyphoscoliosis, Microceph... OMIM:610756
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Failure to thrive, Delayed ossification of carpal bones, D... OMIM:620099
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Hypoplasia of the pons, ... OMIM:616202
Fetal Alcohol Syndrome
Joint stiffness, Micrognathia, Intrauterine growth retardation, Microdontia, Thin upper lip vermi... ORPHA:1915
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Microcephaly, Short stature, Macrocephaly OMIM:620062
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Intrauterine growth ... OMIM:269880
Cerebrooculofacioskeletal Syndrome 4
Flexion contracture of toe, Abnormality of the vertebral column, Bilateral microphthalmos, Polymi... OMIM:610758
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Micrognathia, Knee flexion contracture, Microdontia, Microcephaly, Microphth... OMIM:619694
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Microphthalmia, G... OMIM:274270
Sandestig-Stefanova Syndrome
Retrognathia, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Orofacial cleft... OMIM:618804
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Humeror... OMIM:101200
Cockayne Syndrome B
Carious teeth, Limitation of joint mobility, Basal ganglia calcification, Postnatal growth retard... OMIM:133540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Downturned corners of mouth, Micrognathia, Agenesis of corpus callosum... ORPHA:93267
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
Noonan Syndrome 4
Dental malocclusion, Macrocephaly, Large for gestational age, Short neck, Thick vermilion border,... OMIM:610733
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Braddock-Carey Syndrome 2
Retrognathia, Microcephaly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Takenouchi-Kosaki Syndrome
Cerebral cortical atrophy, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widel... OMIM:616737
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Postnatal growth retardation, Microcephaly, Short stature,... OMIM:619489
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Dental malocclusion, Open mouth OMIM:619149
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Widely-spaced incisors, Hypoplasia of the corpus callosum, Thin upper ... OMIM:618737
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Joint contracture of the hand, Median cleft palate, Pericallosal lipom... OMIM:136760
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Narrow mouth, Dysplastic patella, Short neck, Thoracolumbar scoliosis, High palate,... OMIM:265000
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Microcephaly, Macrocephaly, Short stature, Hi... ORPHA:85279
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Obesity, Micrognathia, Microdontia, Short neck, Microphthalmia, Short... ORPHA:3191
Baraitser-Winter Syndrome 1
Retrognathia, Long philtrum, Cleft upper lip, Failure to thrive, Postnatal growth retardation, Ag... OMIM:243310
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Hypoplasia o... OMIM:613155
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Failure to thrive... OMIM:608154
Temtamy Syndrome
Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Abnormal pala... ORPHA:1777
Phelan-Mcdermid Syndrome
Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognathia, Abnormal periventricular w... OMIM:606232
Bresek Syndrome
Growth delay, Intrauterine growth retardation, Neonatal death, Microcephaly, Aganglionic megacolo... ORPHA:85284
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Micrognathia, Narrow mouth, Agenesis of corpus callosum, High palat... OMIM:180849
Nanophthalmos 2
Microphthalmia OMIM:609549
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cohen Syndrome
Micrognathia, Open mouth, Microphthalmia, High, narrow palate, Hypoplasia of the maxilla, Failure... ORPHA:193
Microphthalmia, Syndromic 2
Anophthalmia, Hypoplasia of the corpus callosum, Decreased body weight, Contracture of the proxim... OMIM:300166
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Periventricular leukomalacia, Small for gestational age OMIM:618302
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Dental malocclusion, Postnatal growth retardation, Joint stiffness, Se... OMIM:608940
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Downturned corners of mouth, Polymicrogyria, Secondary microcephaly, P... OMIM:614222
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Robinow Syndrome
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Hypo... ORPHA:97360
Micro Syndrome
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... ORPHA:2510
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Anal stenosis, Dental malocclusion, Delayed eruption of t... OMIM:211380
7Q11.23 Microduplication Syndrome
Micrognathia, Short lingual frenulum, Short neck, High palate, Tracheomalacia, Obesity, Cerebella... ORPHA:96121
Congenital Myopathy 17
Dental malocclusion, Long philtrum, Failure to thrive in infancy, Tented upper lip vermilion, Nar... OMIM:618975
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Postnatal growth retardation, Obesity, Micrognathia, Narrow mouth, Intrauterine grow... ORPHA:96184
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Cleft palate OMIM:246560
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,... ORPHA:90653
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Talon cusp, Tarsa... OMIM:605282
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Retrognathia, Failure to thrive, S... OMIM:616580
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d... ORPHA:79345
Microphthalmia With Limb Anomalies
Retrognathia, Cleft upper lip, Failure to thrive, Sacral dimple, Camptodactyly of 2nd-5th fingers... OMIM:206920
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption... ORPHA:50814
Ring Chromosome 10 Syndrome
Long philtrum, Intrauterine growth retardation, Micrognathia, Aganglionic megacolon, Cachexia, Sh... ORPHA:1438
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Rhizomelia, Micrognathia, Malar flattening, Short n... OMIM:108721
Hamamy Syndrome
Osteopenia, Dental malocclusion, Long philtrum, Micrognathia, Thin upper lip vermilion, Hypodonti... OMIM:611174
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Narrow mouth, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcepha... OMIM:614833
Spondyloenchondrodysplasia
Platyspondyly, Dental malocclusion, Delayed eruption of teeth, Cerebral calcification, Abnormal p... ORPHA:1855
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis... OMIM:231070
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Macrodontia of permanent maxillary central incisor, Downturned corn... OMIM:618067
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Recurrent fractures, Reduced bone mineral density, Bicon... OMIM:166220
Osteogenesis Imperfecta
Carious teeth, Enlarged vertebral pedicles, Micrognathia, Intestinal obstruction, Decreased skull... ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Hypoplasia of the pons, Retrognathia, Failure to thrive, Postnatal mac... OMIM:620157
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Coronal craniosynostosis, Delayed erup... OMIM:235510
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation, Microdontia, ... ORPHA:2728
Sclerosteosis 1
Tooth malposition, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Sclerotic... OMIM:269500
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Global brain atrophy, Failure to thrive, Long philtrum, Hypoplasia of ... ORPHA:481152
Cockayne Syndrome A
Carious teeth, Dental malocclusion, Failure to thrive, Cerebral atrophy, Limitation of joint mobi... OMIM:216400
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Large for gestational... OMIM:612731
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Patchy osteosclerosis, Long philtrum, Postnatal growth retardation, Micrognathia, Mi... OMIM:241410
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Macrocephaly, Mandibular prognathia ORPHA:397973
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Macrocephaly, Micrognathia, Microphthalmia, Decreased body weight, Osteopetrosis, Cavum septum pe... OMIM:617306
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Retrognathia, Thick vermilion border, Joint contracture of the 5th finger, Exaggerated... OMIM:620098
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microphthalmia, Crani... ORPHA:2117
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Everted lower l... ORPHA:192
Mend Syndrome
Asymmetry of the mouth, Kyphosis, Failure to thrive, Sacral dimple, Micrognathia, Hypoplasia of t... ORPHA:401973
3Q29 Microduplication Syndrome
Abnormality of the dentition, Obesity, Aniridia, Camptodactyly of toe, Microcephaly, Ectopic anus... ORPHA:251038
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Postnatal g... ORPHA:487796
Garg-Mishra Progeroid Syndrome
Platyspondyly, Dental crowding, Secondary microcephaly, Postnatal growth retardation, Micrognathi... OMIM:620601
Localized Scleroderma
Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Sclerosis... ORPHA:90289
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Polymicrogyria, Ankyloglossia, Unilateral microphthalmos, Malar flattening, Bi... OMIM:618874
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Micrognathia, Narrow ... OMIM:251230
Spondylo-Ocular Syndrome
Platyspondyly, Long philtrum, Joint hypermobility, Short neck, Disproportionate short-trunk short... ORPHA:85194
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Intestinal malrotation, Postnatal growth retardation, Protruding tongue,... OMIM:300963
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Absent septum pell... ORPHA:2189
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Failure to thrive, Cleft mandible, Intrauterine growth retar... ORPHA:364577
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Irregular dentition, Agenesis of corpus callosum, Microphthalmia, Anal ... OMIM:619148
Cockayne Syndrome
Carious teeth, Basal ganglia calcification, Cerebral calcification, Postnatal growth retardation,... ORPHA:191
Coffin-Lowry Syndrome
Narrow palate, Dental malocclusion, Kyphosis, Thick lower lip vermilion, Widely spaced teeth, Ope... OMIM:303600
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Obesity, Hypoplasia of the corpus callosum, J... OMIM:619185
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Cerebral atrophy, Furrowed tongue, Tented upper lip vermilion, Hypoplasia of the co... OMIM:616449
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Decreased body weight, Short stature, Short philtrum, Mandibular progn... ORPHA:93945
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Craniosynostosi... ORPHA:1528
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Cranial hyperostosis, Basal ganglia calcification, Cerebral calcification, O... OMIM:259730
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Macrocephaly, Short sta... ORPHA:261295
Xk Aprosencephaly Syndrome
Microcephaly, Anal atresia, Narrow mouth, Microphthalmia ORPHA:3469
Marshall Syndrome
Platyspondyly, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Th... OMIM:154780
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Limitation of joint mobility, Long philt... ORPHA:178303
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Failure to thrive, Cerebral atrophy, Hypoplasia of the corpus callosum... OMIM:614261
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Micrognathia, Th... ORPHA:404440
Martsolf Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Tracheomalacia, Long philtrum, Lumbar hyperlordosis... OMIM:212720
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Microphthalmia, Vertebral segme... OMIM:612530
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Joint contractu... OMIM:201000
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Aplasia/Hypoplasia of the corpus callosu... ORPHA:568
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Microcephaly, Short neck, Microphthalmia, Cleft palate OMIM:613885
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cervical spine hypermobility, Hypoplasia of the odontoid process, Fail... OMIM:305400
3P25.3 Microdeletion Syndrome
High, narrow palate, Downturned corners of mouth, Sacral dimple, Micrognathia, Knee flexion contr... ORPHA:435638
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteo... OMIM:166300
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Hypoplasia of the brainstem, Micrognathia, Short neck,... OMIM:157900
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Proportionate short stature, Deep philtrum, Hyperextensible hand joints, Tri... OMIM:227330
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Failure to thrive, Intrauterine growth retardati... OMIM:616395
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Failure to thrive, Diastema, Furrowed tongue, Micrognathia, Decreased ... OMIM:300534
Cole-Carpenter Syndrome 2
Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope... OMIM:616294
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microphthalmia, Cle... OMIM:164180
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Intrauterine growth retardation... ORPHA:3378
Congenital Varicella Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly, Microphthalmia ORPHA:291
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Peters-Plus Syndrome
Postnatal growth retardation, Micrognathia, Short lingual frenulum, Agenesis of corpus callosum, ... OMIM:261540
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal cerebral white matter morphology, Anterior open-bite malocclusion ORPHA:83601
Martin-Probst Syndrome
Dental malocclusion, Thick lower lip vermilion, Micrognathia, Malar flattening, Microcephaly, Sho... OMIM:300519
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly OMIM:608257
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Cerebellar vermis hypoplasia, Cerebral atrophy, Polymicrogyria, Long philtru... OMIM:618494
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inferior cerebellar vermis hypoplasia, Cleft lip, Microretrognathia, Downturned corners of mouth,... OMIM:618571
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Short stature,... OMIM:251270
Traboulsi Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Malar flattening, Joint hypermobility, Microphtha... OMIM:601552
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Micr... OMIM:300887
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Joint hypermobility, Progressive macrocephaly, Smooth philtrum, Cavum septum pell... OMIM:602501
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... OMIM:252100
Tetrasomy 5P
Failure to thrive, Long philtrum, Postnatal growth retardation, Micrognathia, Pericallosal lipoma... ORPHA:3309
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Postnatal growth ret... ORPHA:439822
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, Microcephaly,... ORPHA:438216
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis, Micrognathia, Microphth... ORPHA:2547
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Hypoplasia of the maxilla, Agenesis of corpus callosum, High ... OMIM:218000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Postnatal growth retardation, Joint stiffness, Bicoron... OMIM:619184
Mccune-Albright Syndrome
Abnormal facial skeleton morphology, Dental malocclusion, Aneurysmal bone cyst, Osteomalacia, Mon... ORPHA:562
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Failure to thrive, Secondary mi... ORPHA:353281
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Neonatal death, Decreased calvarial os... OMIM:617925
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Rhizomelia, Intrauterine growth retardation, Micrognathia, Cerebellar hypoplasia, ... ORPHA:163966
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Congenital Toxoplasmosis
Failure to thrive in infancy, Cerebral calcification, Intrauterine growth retardation, Microcepha... ORPHA:858
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Tarsal synostosis, Narrow mouth, Micr... ORPHA:1307
Weill-Marchesani Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Microspherophakia, Spinal canal stenosis, Abnormal ... OMIM:277600
Crouzon Syndrome
Hypoplasia of the maxilla, Multiple suture craniosynostosis, Cerebellar hypoplasia, Narrow palate... ORPHA:207
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormality of the vertebral column, Rieger anomaly, Malar flattening,... OMIM:109120
Fanconi Anemia, Complementation Group R
Growth delay, Radial dysplasia, Agenesis of permanent teeth, Microcephaly, Microphthalmia, Anal a... OMIM:617244
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Cleft palate, Tooth agenesis ORPHA:1135
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Failure to thrive, Postnatal growth retardation, Punctate vertebral calcifications, S... OMIM:302960
Frontorhiny
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Lu... ORPHA:391474
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Thoracic kyphosis, Knee flexion contracture, Achilles... OMIM:620545
Angelman Syndrome
Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,... OMIM:105830
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Microphthalmia, Kyphoscoliosis, Anterior ri... ORPHA:35173
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Temtamy Syndrome
Dental crowding, Long philtrum, Micrognathia, Agenesis of corpus callosum, Thick corpus callosum,... OMIM:218340
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Secondary microcephaly, Micrognathia, Malar flattening, Short stature,... ORPHA:79113
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Microphthalmia, High palate, Rectovaginal fistula, Hypopla... ORPHA:861
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Acrocallosal Syndrome
Everted upper lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Postnatal growth retardat... OMIM:200990
Adams-Oliver Syndrome 2
Cerebral atrophy, Polymicrogyria, Micrognathia, Cerebellar hypoplasia, Microcephaly, Macrocephaly... OMIM:614219
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Mandibular prognathia, Downturned corners of mouth, Bilateral m... ORPHA:369891
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Enterocolitis, Microphthalmia OMIM:301108
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Failure to thrive, Joint hypermobility, Short phil... ORPHA:65286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Toriello-Carey Syndrome
Abnormal corpus callosum morphology, Cerebral atrophy, Anteriorly placed anus, Postnatal growth r... ORPHA:3338
Galloway-Mowat Syndrome 3
Failure to thrive, Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Narrow mouth,... OMIM:617729
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Osteopenia, Hypoplasia of the maxilla, Ankle flexion contracture, ... OMIM:259600
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Micr... ORPHA:494344
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia, Cra... OMIM:218670
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, Neonatal death,... OMIM:612289
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly... ORPHA:370959
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Macrocephaly, Sho... ORPHA:2662
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Postnatal growth retardation, Recurrent mandibular subluxations, M... OMIM:225410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microcephaly, Deep philtrum, ... OMIM:152950
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Failure to thrive, Long philtrum, Intrauterine growth retardation, Mic... OMIM:613805
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Microcephaly, Short... OMIM:156610
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal pala... ORPHA:93262
Nanophthalmos
Microphthalmia ORPHA:35612
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Orofacial cleft, Macrocephaly at birth, Microphthalmia ORPHA:324416
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Tracheoesophageal fistula, Microphthalmia, Cortical dysplasia, Cle... ORPHA:261272
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Cleft lip, Natal tooth, Microretrognathia, Unicoronal synos... OMIM:616300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Abnormally large globe, Hypoplasia of the pons, Long philtrum, Hypoplasia... OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Basal ganglia calcification, Joint cont... OMIM:164200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Camptodactyly of finger, Pericallosal ... ORPHA:306542
Lissencephaly 8
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus call... OMIM:617255
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Paranasal sinus hypoplasia, Microphthalmia, High palate, Hypoplas... OMIM:603457
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Microphthalmia ORPHA:627
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease... OMIM:608747
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Failure to thrive, Micrognath... OMIM:601812
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Tented upper lip vermilion, Hypoplasia of the corpus callosum, Microcephaly, High ... OMIM:614105
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Retrognathia, Cerebral atrophy, Furrowed tongue, Contracture of the proximal... ORPHA:464738
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Growth delay, Persisten... ORPHA:37553
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Open mouth, Short lingual ... ORPHA:293939
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the maxilla, Anal stenosis, Caudal appendage, Osteope... ORPHA:314679
Fanconi Anemia, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:614082
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Sanjad-Sakati Syndrome
Abnormality of the dentition, Patchy osteosclerosis, Long philtrum, Abnormal dental enamel morpho... ORPHA:2323
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Micrognathia, Hypoplasia of the corpus callosum, Short neck, Beakin... OMIM:213980
Congenital Syphilis
Periostitis, Hyperplasia of the maxilla, Intrauterine growth retardation, Synovitis, Mulberry mol... ORPHA:499009
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Long philtrum, Secondary microcephaly, Narrow mouth, Hypoplasia of the... OMIM:615663
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly, Hemivertebrae, Short stature, ... OMIM:619318
Galloway-Mowat Syndrome 1
Joint contracture of the hand, Cerebral atrophy, Hypoplasia of the brainstem, Secondary microceph... OMIM:251300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, Micrognathia, H... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, Micrognathia, H... ORPHA:353277
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Hypoplasia of the corpus callosum... OMIM:620114
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... OMIM:123500
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Growth delay, Retrognathia, Microcephaly, Microphthalmia, Partial agen... OMIM:234050
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Intrauterine growth retard... ORPHA:228390
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Failure to thrive, Thick lower lip vermilion, Intrauterine growth reta... OMIM:613804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Congenital contracture, Cleft upper lip, Hypoplasia of the brainstem, Type II lissencephaly, Micr... OMIM:613150
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Anal stenosis, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia... ORPHA:782
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu... OMIM:614188
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Hypoplasia of the corpu... OMIM:611961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Narrow mouth, Hypoplasia of the corpus callosum, Agenesis of corpus callo... ORPHA:468631
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Biemond Syndrome Type 2
Short stature, Obesity, Delayed puberty, Microphthalmia ORPHA:141333
Walker-Warburg Syndrome
Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum... ORPHA:899
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Anal atresia, Microphthalmia ORPHA:195
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Dental crowding, Caudal appenda... OMIM:257920
Ohdo Syndrome, X-Linked
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Microdontia, Hiatus hernia, Smoot... OMIM:300895
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Spin... ORPHA:950
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Failure to thrive, Long philtrum, Cleft mandible,... OMIM:608670
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Radioulnar synostosis, Everted lowe... ORPHA:904
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Dental malocclusion, Long philtrum, Micrognathia, Joint hypermobility, Conical inciso... ORPHA:73223
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Prog... OMIM:615108
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Micrognathia, Joint contracture of the 5th finger, Hypoplasia of the corpus callosu... OMIM:618914
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Camptodactyly of finger, Malar flattening, Interv... ORPHA:284984
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Agenesis of corpus callosum... OMIM:309520
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Downturned corners of mouth, Long philtrum, Camptodactyly of finger, M... ORPHA:251014
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent t... OMIM:268400
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Micrognathia, Microphthalmia, Hypoplasia of the corpus callosum, Exa... OMIM:614230
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p... ORPHA:560
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin... OMIM:305600
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Micrognathia, Microcephaly, Microphthalmia, Short stature, Cleft palate ORPHA:2505
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Microphthalmia OMIM:614526
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, A... OMIM:223370
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of corpus callosum, Agenesis of pineal gland, Microphthalmia, Cleft palate OMIM:614402
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth, Camptodactyly of finger ORPHA:1529
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Open mouth, Malar flatte... OMIM:614424
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate ORPHA:1473
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Aplasia/Hypoplasia of the corpus callo... ORPHA:284160
Stromme Syndrome
Cerebellar vermis hypoplasia, Intestinal malrotation, Micrognathia, Agenesis of corpus callosum, ... OMIM:243605
Mosaic Trisomy 9
Limitation of joint mobility, Camptodactyly of finger, Intestinal malrotation, Intrauterine growt... ORPHA:99776
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft, ... OMIM:229400
Cousin Syndrome
Hydranencephaly, Microglossia, Joint contracture of the hand, Disproportionate short stature, Rhi... OMIM:260660
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Tracheomalacia, Micrognathia, Nar... ORPHA:2108
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Failure to thrive in infancy, Postnatal growth retardat... OMIM:163950
Myhre Syndrome
Limitation of joint mobility, Enlarged vertebral pedicles, Narrow mouth, Short neck, Microphthalm... OMIM:139210
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Abnormal form of the vertebral bodies, Bilateral microphthalmos, C... ORPHA:2839
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Prog... OMIM:615109
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Neonatal short-limb short stature,... ORPHA:289
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Abnormality of the vertebral column, Large for gestatio... ORPHA:77301
Kapur-Toriello Syndrome
Joint contracture of the hand, Cleft upper lip, Polymicrogyria, Intestinal malrotation, Camptodac... OMIM:244300
Zttk Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, High palate, Hypoplasia of the maxilla, Downturn... OMIM:617140
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Growth delay, Microphthalmia OMIM:308350
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Synostosis of carp... ORPHA:1106
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Short upper lip, Microretrognathia, Polymicrogyria, Thick lower lip... ORPHA:1692
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Rhizomelia, Intrauterine growth retardation, Microphthalmia, Decreased skull ossif... OMIM:300863
Nanophthalmos 4
Microphthalmia OMIM:615972
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia, Neonatal death OMIM:613730
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Cleft palate, M... OMIM:611134
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Bilateral microphthalmos, Microcephaly, Severe postnatal growth retard... ORPHA:2399
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip, Anophthalmia, Bilateral cleft palate OMIM:600776
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Microphthalmia, Short sta... ORPHA:2788
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Neonatal death, Decrea... OMIM:215140
1Q21.1 Microdeletion Syndrome
Failure to thrive, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Agenesis of cor... ORPHA:250989
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Severe short stature, Retrognathia, ... ORPHA:2554
Fryns Syndrome
Cerebral cortical atrophy, Long philtrum, Duodenal atresia, Intestinal malrotation, Micrognathia,... ORPHA:2059
Shprintzen-Goldberg Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Retrognathia, Failure to thrive, Abno... ORPHA:2462
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... OMIM:147250
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis ORPHA:466722
Weill-Marchesani Syndrome 2
Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Flexion contracture of toe, Microsph... OMIM:608328
Stickler Syndrome
Open bite, Slender build, Micrognathia, Short hard palate, Cachexia, Hypoplasia of the maxilla, C... ORPHA:828
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Cervical C5/C6 vertebrae fusio... ORPHA:87
Basal Cell Nevus Syndrome 1
Irregular ossification of hand bones, Vertebral wedging, Cleft upper lip, Calcification of falx c... OMIM:109400
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Absent septum pellucidum, Decreased body weight, Agenesis of cor... OMIM:609053
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Joint stiffness, Micrognathia, Abnor... ORPHA:245
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Long philtrum, Postnatal growth reta... ORPHA:251061
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Cleft upper lip, Polymicrogyria, Postnatal growth ... OMIM:304050
Osteoglophonic Dysplasia
Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Rhizomelia, Growth delay, Delayed eruption ... OMIM:166250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Intrauterine growth retardation, Micrognathia, Microcephaly, Microphthalm... ORPHA:1352
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Aicardi Syndrome
Block vertebrae, Cleft upper lip, Polymicrogyria, Intestinal polyposis, Butterfly vertebrae, Prom... ORPHA:50
Trichothiodystrophy 1, Photosensitive
Retrognathia, Intestinal obstruction, Triangular mouth, Microcephaly, Microphthalmia, Short statu... OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Cowden Syndrome 1
Hypoplasia of the maxilla, Colonic diverticula, Hemimegalencephaly, Furrowed tongue, Micrognathia... OMIM:158350
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Open bite, Hyperlordosis, Short... ORPHA:794
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microcephaly, Microphthalmia,... ORPHA:1942
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Orofacial cleft, Microphthalmia, Anal at... ORPHA:3301
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Anophthalmia, Agenesis of corpus callosum, Microcephaly, M... ORPHA:139471
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Accessory oral frenulum OMIM:619142
Kapur-Toriello Syndrome
Failure to thrive, Polymicrogyria, Intestinal malrotation, Dysplastic corpus callosum, Orofacial ... ORPHA:2328
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Everted lower li... ORPHA:534
Joubert Syndrome 22
Temporal cortical atrophy, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Mi... OMIM:615665
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Long philtr... OMIM:614976
Atelis Syndrome 2
Downturned corners of mouth, Diastema, Thick lower lip vermilion, Micrognathia, Microcephaly, Mic... OMIM:620185
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Humeroradial synostosis, El... OMIM:101600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microcephaly, Microphthalmia, Sh... ORPHA:290
Roberts Syndrome
Synostosis of carpal bones, Cleft upper lip, Postnatal growth retardation, Micrognathia, Malar fl... ORPHA:3103
Trisomy 18
Microretrognathia, Growth delay, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of fing... ORPHA:3380
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Growth delay, Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calc... ORPHA:93325
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Osteopenia, Fai... ORPHA:363611
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Aniridia, Decreased skull ossification, Microphthalmia, Short s... OMIM:602361
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Intrauterin... ORPHA:2714
Nablus Mask-Like Facial Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of the hand, Retrognat... OMIM:608156
Teebi-Shaltout Syndrome
High, narrow palate, Caudal appendage, Prominent palatine ridges, Narrow mouth, Oligodontia, Micr... OMIM:272950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Cleft upper lip, Polymicrogyria, Type II lissencephaly, Hypoplasia of the... OMIM:236670
Myhre Syndrome
Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft,... ORPHA:2588
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Joint contracture of the hand, Failure to thrive, Intrauterine growth ... OMIM:224690
Fraser Syndrome 1
Abnormal cortical gyration, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral micr... OMIM:219000
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Smooth philtrum, Downturned corners of mouth, Microphthalmia OMIM:618652
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Anophthalmia, Short neck, Microphthalmia, Failure to t... ORPHA:2162
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Anophthalmia, Vertebral seg... ORPHA:2052
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Frontofacionasal Dysplasia
Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia, Short stature, ...