Gene: Foxn3 MGI:1918625

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Gene Summary

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

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 4.61×10-07
preweaning lethality, complete penetrance Foxn3em1(IMPC)Bay HOM   Early adult 0.00

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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 eye

5 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left fundus

5 Images

Eye Morphology

VIP of right fundus

5 Images

Eye Morphology

VIP of left eye

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Human diseases caused by Foxn3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... OMIM:614669
Larsen-Like Syndrome
Wide anterior fontanel, Joint laxity, Cleft palate, Short stature, Kyphoscoliosis, Macrocephaly, ... OMIM:608545
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Microphthalmia, Cleft palate, Intrauterine growth retardation... OMIM:616570
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Intestinal malrotation, Retrognathia, Increased overbite, High pala... OMIM:613684
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Kyphosis... ORPHA:2471
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Fryns Macrocephaly
Postnatal macrocephaly, Short philtrum, Everted lower lip vermilion, Cerebral atrophy, Wide mouth... OMIM:600302
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Sacral dimple, Thin upper lip vermi... OMIM:616331
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Alpha-Mannosidosis
Open bite, Scoliosis, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperostosi... ORPHA:61
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Cerebellar hypoplasia, Macrodontia of permanent maxillary central incisor... OMIM:616202
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Short stature, Dental m... ORPHA:1858
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, T... OMIM:249630
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Dental malocclusion, Tongue atrophy OMIM:141300
Auriculocondylar Syndrome 1
Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open... OMIM:602483
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Delayed eruption of teeth, Platyspondyly, Camptodactyly of finger, Join... OMIM:612350
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Dental malocclusion, Vertebral clefting OMIM:155050
Potocki-Lupski Syndrome
Scoliosis, Dental crowding, Hypoplasia of the corpus callosum, Mandibular prognathia, Wide mouth,... OMIM:610883
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Large for gestational age, Microphthalmia OMIM:248110
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Growth delay, Microphthalmia, Short stature, High palate, Retrognathia, Microcephaly ORPHA:2528
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Abnormality of dental morphology, Back pain, Abnormality of th... ORPHA:210110
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Narrow mouth, Downturned corners of mouth, Abnormal form of t... ORPHA:1327
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Van Maldergem Syndrome 1
Scoliosis, Pachygyria, Wide anterior fontanel, Downturned corners of mouth, Joint laxity, Hypopla... OMIM:601390
Fanconi Anemia, Complementation Group S
Narrow palate, Thick upper lip vermilion, Microphthalmia, Failure to thrive, Short stature, Micro... OMIM:617883
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Atkin-Flaitz Syndrome
Scoliosis, Joint laxity, Kyphosis, Maxillary lateral incisor microdontia, Short stature, Macrocep... OMIM:300431
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Pachygyria, Dental crowding, Proportionate short stature, Cerebella... OMIM:210600
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Thin vermilion border, Perisylvian polymicrogyria, Narrow mout... OMIM:600118
Three M Syndrome 2
Hyperlordosis, Long philtrum, Delayed eruption of teeth, Thick vermilion border, Severe short sta... OMIM:612921
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Camptodac... OMIM:214150
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Arthrogryposis multiplex congenita... ORPHA:1466
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Marden-Walker Syndrome
Scoliosis, Hypoplasia of the brainstem, Narrow mouth, Camptodactyly, Postnatal growth retardation... OMIM:248700
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Abnormal periventricular white matter morphology, Cerebral white matter atrophy, Deep ... ORPHA:329178
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Clark-Baraitser syndrome
Scoliosis, Joint laxity, Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Exaggerat... OMIM:300602
Van Maldergem Syndrome 2
Scoliosis, Wide anterior fontanel, Downturned corners of mouth, Joint laxity, Hypoplasia of the c... OMIM:615546
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Harrod Syndrome
Scoliosis, Narrow mouth, Joint hyperflexibility, Kyphosis, Cerebral cortical atrophy, Failure to ... ORPHA:2115
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck, Taurodontia, La... ORPHA:2563
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Kyphoscoliosis, Supernumerary tooth, Failure... OMIM:264475
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fractures, Oste... ORPHA:2785
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Mmep Syndrome
Mandibular prognathia, Oral cleft, Microphthalmia, Microcephaly, Median cleft lip ORPHA:3434
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Oligodontia, Proportionate short stature, Joint contracture of the 5th finger, Irr... OMIM:601668
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Cuboid-shaped thoracolumbar ve... ORPHA:3079
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Growth delay, Hypodontia, Microg... OMIM:253250
Pierpont Syndrome
Scoliosis, Thin vermilion border, Joint laxity, Everted lower lip vermilion, Long upper lip, Smoo... ORPHA:487825
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Platyspondyly, Abnormal bone ossification, Short neck, Wide anterior fontanel, Dow... ORPHA:163649
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Small for gestational ... ORPHA:2980
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Short stature, Dental malocclusion, Short neck, Malar flattening ORPHA:436245
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Cohen Syndrome
Joint hypermobility, Short philtrum, Open mouth, Cerebellar hypoplasia, Decreased response to gro... OMIM:216550
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Hyperlordosis,... OMIM:190350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphth... OMIM:615771
Frank-Ter Haar Syndrome
Osteoporosis, Cortical irregularity, Buphthalmos, Wide anterior fontanel, Kyphosis, Camptodactyly... OMIM:249420
Craniometadiaphyseal Dysplasia
Scoliosis, Carious teeth, Wide anterior fontanel, Dental crowding, Mandibular prognathia, Natal t... OMIM:269300
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Growth delay, Small for gestational age, Microphthalmia,... ORPHA:1617
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Furrowed tongue, Short stature, Kyphoscoliosis, Dental mal... OMIM:248950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Short stature, Simplified gyral pattern, Intrauterine growth re... OMIM:616171
Myopathy, Myofibrillar, 8
Scoliosis, Joint hypermobility, Distal joint laxity, Joint contracture of the 5th finger, Achille... OMIM:617258
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Shoulder flexion contracture, Camptodactyly of fin... OMIM:619110
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Sacral dimple, Short sta... OMIM:615502
Pierpont Syndrome
Scoliosis, Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, D... OMIM:602342
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Severe platyspondyly, Postnatal gro... OMIM:608940
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Dental crowding, Postnatal growth retardation, Increased susceptibility to fracture... ORPHA:251028
Muenke Syndrome
Capitate-hamate fusion, Coronal craniosynostosis, Macrocephaly, High palate, Dental malocclusion,... OMIM:602849
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Thin vermilion border, Joint hypermobility, Narrow palate, Narrow mouth... OMIM:234100
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Delayed eruption of teeth, Decreased growth hormone responses to growth hormone-releas... OMIM:101800
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Fragile teeth, Hypodontia, Delayed puberty, Multiple joint co... ORPHA:2959
Ritscher-Schinzel Syndrome 3
Epiphyseal stippling, Wide anterior fontanel, Poorly ossified vertebrae, Cerebellar vermis hypopl... OMIM:619135
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Frontometaphyseal Dysplasia 1
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Anteriorly placed odontoid process... OMIM:305620
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, C1-C2 vertebral abnormality, Narrow palate, Wide anterior fontane... OMIM:182212
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Osteopo... OMIM:156510
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Cleft palate, Microphthalmia, Anophthalmia, Micrognathia, Vertebral segmentatio... OMIM:221950
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... OMIM:601216
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Kyphosis, Cerebral cortical atrophy, Microphtha... ORPHA:48431
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Scoliosis, Short philtrum, Hypoplasia of the pons, Drooling, Joint laxity, Fle... OMIM:619293
Cri-Du-Chat Syndrome
Scoliosis, Short philtrum, Short neck, Downturned corners of mouth, Microretrognathia, Growth del... OMIM:123450
Baraitser-Winter Syndrome 2
Long philtrum, Pachygyria, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia, Shor... OMIM:614583
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrogna... ORPHA:2521
Kabuki Syndrome 2
Joint laxity, Natal tooth, Decreased body weight, Hypodontia, Postnatal growth retardation, Intra... OMIM:300867
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Rieger anomaly, Hypodontia,... OMIM:269880
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Large for gestational age, Microphthalmia ORPHA:2432
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, High, narrow ... ORPHA:166108
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, Macrocephaly, High palate, Hypoplasia of the maxilla OMIM:300676
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Short neck, Growth delay, Wide mouth, H... ORPHA:3473
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Smooth philtrum, Macrocephaly,... OMIM:157980
Microphthalmia, Syndromic 8
Mandibular prognathia, Oral cleft, Microphthalmia, Cleft upper lip, Cleft palate, Microcephaly, W... OMIM:601349
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Globa... OMIM:616920
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Tarsal synostosis, Abnormality of canin... ORPHA:363417
Auriculocondylar Syndrome
Macrocephaly, Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle a... ORPHA:137888
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Mandibular prognathia, Tooth agenesis, Clef... ORPHA:1248
Cerebellar-Facial-Dental Syndrome
Scoliosis, Long philtrum, Hypoplasia of the brainstem, Short neck, Taurodontia, Hypoplasia of the... ORPHA:444072
Faciothoracogenital Syndrome
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Microphthalmia, Micrognathia OMIM:227320
Chromosome 16Q22 Deletion Syndrome
Short neck, Wide anterior fontanel, Growth delay, Postnatal growth retardation, Small for gestati... OMIM:614541
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... ORPHA:85321
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Anal atresia, Small for gestational age, Short stat... ORPHA:93950
Seckel Syndrome 2
Growth delay, Cerebellar hypoplasia, Microglossia, Small for gestational age, Microphthalmia, Sho... OMIM:606744
Microphthalmia, Syndromic 13
Diastema, Microphthalmia, Short stature, Kyphoscoliosis, Microcephaly OMIM:300915
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Bilateral cleft lip and palate, Microphthalmia, Micrognathia, Accessory o... OMIM:619339
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in... OMIM:610829
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Aplasia/Hypoplasia... ORPHA:2409
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Macrocephaly, Osteopetrosis, Severe short st... ORPHA:2780
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Scoliosis, Short philtrum, Narrow palate, Joint laxity, Open mouth, Hypoplasia of ... ORPHA:364028
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifida occu... OMIM:300373
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Short neck, Decreased hip abduction,... OMIM:114300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Dental malocclusion, Smooth philtrum, Abnormality of the dentition,... ORPHA:363444
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Cerebral atroph... OMIM:618729
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Spondylolisth... OMIM:617877
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Hajdu-Cheney Syndrome
Foot acroosteolysis, Joint laxity, Intestinal malrotation, Pathologic fracture, High palate, Shor... OMIM:102500
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Short philtrum, Arthrogryposis multiplex congenita, Flexion contracture ... OMIM:610758
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Short neck, Downturned corners of mouth, Hypodo... ORPHA:1598
Schwartz-Jampel Syndrome
Pursed lips, Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplasm, I... ORPHA:800
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short philtrum, Short neck, Downturned corners of mouth, Rhizomelia, Microphthalmi... ORPHA:93267
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Oculofaciocardiodental Syndrome
Scoliosis, Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Radioulnar s... ORPHA:2712
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hypodontia, Hemivertebrae, Vertebral... OMIM:263540
Oliver Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Mandibular prognathia, Knee flexion contractu... ORPHA:2920
Fetal Alcohol Syndrome
Biparietal narrowing, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Joint sti... ORPHA:1915
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De... ORPHA:776
Cardiofaciocutaneous Syndrome 1
Open bite, Scoliosis, Short neck, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Deep phi... OMIM:115150
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Microphthalmia, Short stature, Micro... ORPHA:3191
Noonan Syndrome 4
Scoliosis, Short neck, Wide mouth, Thick vermilion border, Short stature, Macrocephaly, Dental ma... OMIM:610733
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Short stature, Dental... OMIM:603463
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Basal ganglia calcification, Craniosynostosis, Hypoplasia of the maxilla OMIM:608432
Craniofaciofrontodigital Syndrome
Long philtrum, Joint hypermobility, Abnormality of the dentition, Short stature, Macrocephaly, De... OMIM:114620
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Massive... ORPHA:1798
Baraitser-Winter Syndrome 1
Long philtrum, Pachygyria, Wide mouth, Postnatal growth retardation, Oral cleft, Thin upper lip v... OMIM:243310
Frontonasal Dysplasia 1
Agenesis of corpus callosum, Hypoplastic frontal sinuses, Camptodactyly, Lipoma of corpus callosu... OMIM:136760
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Glossoptosis, Short stature, Microcephaly, High, narrow pala... ORPHA:3201
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Growth delay, Small for gestational age, Microphthalmia, Kyphoscoliosis,... OMIM:610756
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... OMIM:241310
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Hypoplasia of the corpus callosum, Smooth philtrum, Thin upper lip vermilion, Widely-... OMIM:618737
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Long philtrum, Short neck, Agenesis of permanent teeth, Downturned corners of mouth, K... OMIM:616894
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Cerebral atrophy, Microphthalmia, Failure to thrive, Microcephaly, Agenesis of corp... OMIM:274270
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Joint hyperflexibility, Abn... ORPHA:1777
Takenouchi-Kosaki Syndrome
Scoliosis, Long philtrum, Short philtrum, Abnormal periventricular white matter morphology, Downt... OMIM:616737
Cockayne Syndrome B
Osteoporosis, Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Mandibular p... OMIM:133540
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Anophthalmia, Anencephaly, Gingival cleft, Unilateral ... ORPHA:2189
Beaulieu-Boycott-Innes Syndrome
Microcephaly, Carious teeth, Dental malocclusion OMIM:613680
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Camptodactyly, Oral cleft, Primary microcephaly, Small for ges... OMIM:618804
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Narrow palate, Agenesis of corpus callosum, S... OMIM:101200
Turnpenny-Fry Syndrome
Narrow mouth, Dental crowding, Mandibular prognathia, High palate, Cavum septum pellucidum, Thora... OMIM:618371
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Short neck, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Cerebral atrophy, Osteop... OMIM:611209
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Mild short stature, Flexion contracture, Decreased body weight, Dysplastic corpus c... OMIM:614833
Neu-Laxova Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Cerebral calcificatio... ORPHA:2671
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Short stature, Bifid uvula, High palate, ... OMIM:617412
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Hypoplasia of the corpus callosum, Flexion contractur... OMIM:614222
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Mandibular ... OMIM:231070
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Abnormality of the dentition, Short stature, Hypoplasia of the maxilla ORPHA:2776
Harrod Syndrome
Malrotation of small bowel, Narrow mouth, Dental malocclusion, Aganglionic megacolon, Failure to ... OMIM:601095
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Persistence of primary teeth, Microdontia, Microphthalmia, Conica... OMIM:618727
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Scoliosis, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, La... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Scoliosis, Craniosynostosis, Joint laxity, Open mouth, Downturned corners of mouth, La... ORPHA:352665
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Microcephaly, Short neck OMIM:613885
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Bresek Syndrome
Scoliosis, Growth delay, Aganglionic megacolon, Hemivertebrae, Neonatal death, Optic nerve hypopl... ORPHA:85284
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Joint hyperflexibility, Everte... ORPHA:915
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Osteogenesis Imperfecta, Type Iii
Scoliosis, Neonatal short-limb short stature, Wide anterior fontanel, Biconcave vertebral bodies,... OMIM:259420
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Short stature, Macrocephaly, High palate, Microcephaly, Hypoplasia of th... ORPHA:85279
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Scoliosis, Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Cavum... ORPHA:457279
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxilla, Abnormality ... ORPHA:178303
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Radioulnar synostosis, Deep philtrum, Diastema, Carpal synostosis,... OMIM:605282
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short mandibular rami, Joint laxity, Prominent frontal... OMIM:170390
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Pyloric stenosis, Postnatal growth ... ORPHA:96184
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cleft upper lip, Cleft palate, Short stature, Microcephaly, Vertebral segmentatio... OMIM:612530
Phelan-Mcdermid Syndrome
Long philtrum, Joint hypermobility, Abnormal periventricular white matter morphology, Microcephal... OMIM:606232
7Q11.23 Microduplication Syndrome
Joint hypermobility, Thin vermilion border, Craniosynostosis, Hemivertebrae, High palate, Short n... ORPHA:96121
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Dental malocclusion, Open mouth OMIM:619149
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Short neck, Aganglionic megacolon, Cachexia, Microphthalmia... ORPHA:1438
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Small for gestational ag... ORPHA:97360
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Osteopenia, Wide mouth, Cuboid-shaped vertebral bodies... OMIM:612731
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased s... OMIM:166220
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Camptodactyly, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Sclerosteosis 1
Mandibular prognathia, Sclerotic vertebral endplates, Cortically dense long tubular bones, Facial... OMIM:269500
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Short neck, Narrow mouth, Hypoplasia of the corpus callosum, Microphthalmia, Short... OMIM:616734
Desmosterolosis
Narrow mouth, Intestinal malrotation, Increased bone mineral density, Micrognathia, Pachygyria, C... ORPHA:35107
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Rhizomelia, Kyphosis, Abnormality of the dentition, Microphthalmia... ORPHA:35173
Nanophthalmos 2
Microphthalmia OMIM:609549
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Wide anterior fontanel, Joint laxity, Recurrent mandibular subluxations, Gingi... OMIM:225410
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spondylo-Ocular Syndrome
Osteoporosis, Long philtrum, Thin vermilion border, Platyspondyly, Thoracic kyphosis, Joint hyper... ORPHA:85194
Nanophthalmos 4
Microphthalmia OMIM:615972
Spondyloenchondrodysplasia
Delayed eruption of teeth, Platyspondyly, Abnormal periventricular white matter morphology, Kypho... ORPHA:1855
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Postnatal growth retardation, Microphthalmia, Cleft palate, Intrauterine gro... ORPHA:2728
Hamamy Syndrome
Long philtrum, Craniosynostosis, Osteopenia, Wide mouth, Smooth philtrum, Hypodontia, High palate... OMIM:611174
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Joint hyperflexibili... ORPHA:90653
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... ORPHA:3352
Cohen Syndrome
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Delayed pu... ORPHA:193
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly, Crowded maxillary incisors, Obesity ORPHA:397973
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Long philtrum, Mandibular prognathia, Smooth philtrum, Tented upper lip vermilion, Failure to thr... OMIM:618975
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Microphthalmia, Syndromic 2
Scoliosis, Oligodontia, Contracture of the proximal interphalangeal joint of the 3rd toe, Anophth... OMIM:300166
Micro Syndrome
Scoliosis, Short philtrum, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Kyphosis, Cereb... ORPHA:2510
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Pierre-Robin sequence, Morbus Scheuermann, Kyphosis, Beaking of vertebr... OMIM:108300
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis, Short neck, Narrow mouth, Aplasia/Hypoplasia of the co... OMIM:251230
Microphthalmia With Limb Anomalies
Fused fourth and fifth metacarpals, Deep philtrum, Growth delay, Anophthalmia, Postnatal growth r... OMIM:206920
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Small for gestational age, Failure to thrive, Short stature, Intrauterine growth r... OMIM:608154
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Abnormality of the vertebral c... OMIM:211380
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Conical incisor, ... OMIM:235510
Hartsfield Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Non-midline cleft lip, Microphthalmi... ORPHA:2117
Dubowitz Syndrome
Scoliosis, Delayed eruption of teeth, Craniosynostosis, Wide anterior fontanel, Aplasia/Hypoplasi... ORPHA:235
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormal dental enamel morphology, Carious teeth, Small for gesta... ORPHA:666
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Short neck, Rhizomelia, Cervical kyphosis, Cleft palate,... OMIM:108721
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Elevated circulating thyroid-stimula... OMIM:601812
Adams-Oliver Syndrome 2
Cerebral atrophy, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Macrocephaly, Microcepha... OMIM:614219
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Joint hypermobility, Short philtrum, Postnatal growth retardation, Intrauterine growth... ORPHA:254531
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypopl... ORPHA:50814
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Biparietal narrowing, Camptodactyly of toe, Deep philtrum, Abnormalit... ORPHA:251038
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short stature, Macrocephaly, Malar flattening, Hypoplasia of the max... ORPHA:261295
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Postnatal growth retardation, ... ORPHA:73272
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Microphth... OMIM:302350
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Narrow mouth, Downturned corners of mouth, Microcephaly, Sacral... OMIM:211910
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Proportionate short stature, Optic disc hypoplasia, Postnatal growth retard... ORPHA:79345
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Small for gestational age, Failure to thrive... OMIM:614261
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Scoliosis, Joint hypermobility, Narrow palate, Narrow mouth, Joint laxity, Den... OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, Shor... OMIM:300534
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Decreased body weight, Short stature, Hypoplasia of the ma... ORPHA:93945
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Anencephaly, Small for gestational age, High palate, Micrognathia, Ana... OMIM:619148
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia OMIM:615524
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Coffin-Lowry Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Narrow palate, Open mouth, Cerebral cortical atr... ORPHA:192
Arthrogryposis, Distal, Type 2A
Pursed lips, Scoliosis, Hypoplasia of the brainstem, Restricted neck movement due to contractures... OMIM:193700
Saul-Wilson Syndrome
Platyspondyly, Wide anterior fontanel, Postnatal growth retardation, Short stature, Intrauterine ... OMIM:618150
Mend Syndrome
Wide anterior fontanel, Hypoplasia of the corpus callosum, Kyphosis, Sacral dimple, Microphthalmi... ORPHA:401973
Localized Scleroderma
Esophagitis, Sclerosis of finger phalanx, Abnormality of facial skeleton, Flexion contracture, Ab... ORPHA:90289
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Rhizomelia, Cerebellar hypoplasia, Wide mouth, Microphthalmia, Sho... ORPHA:163966
Schilbach-Rott Syndrome
Narrow mouth, Short stature, Bifid uvula, Microcephaly, Micrognathia, Submucous cleft hard palate OMIM:164220
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Long philtrum, Short philtrum, Abnormal periventricular white matter morphology, Downt... ORPHA:487796
Cherubism
Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impacted teeth, Den... OMIM:118400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Oral cleft, Macrocephaly at birth, Type II lissencephaly, Microphthalmia ORPHA:324416
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Mandibular prognathia, Everted lower lip vermilion, Lumbar ... OMIM:303600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Joint laxity, Megalencephaly, Smooth philtrum,... OMIM:602501
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of c... ORPHA:2919
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Thick lower lip vermilion, Wide mouth, Short stature, Microcephaly, Dental malocclusion, Microgna... OMIM:300519
Mccune-Albright Syndrome
Scoliosis, Elevated circulating growth hormone concentration, Abnormality of facial skeleton, Rec... ORPHA:562
Cockayne Syndrome
Enamel hypoplasia, Scoliosis, Carious teeth, Postnatal growth retardation, Delayed puberty, Cereb... ORPHA:191
3P25.3 Microdeletion Syndrome
Scoliosis, Abnormality of thalamus morphology, Short philtrum, Cerebral white matter atrophy, Dow... ORPHA:435638
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:278780
Martsolf Syndrome 1
Short philtrum, Tooth malposition, Joint laxity, Lumbar hyperlordosis, Microphthalmia, Short stat... OMIM:212720
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Anal atresia, Narrow mouth ORPHA:3469
Marshall Syndrome
Long philtrum, Platyspondyly, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin seq... OMIM:154780
Aarskog-Scott Syndrome
Scoliosis, Elevated circulating luteinizing hormone level, Joint laxity, Mild short stature, Curv... OMIM:305400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Retrognathia, Microphthalmia OMIM:601552
Cockayne Syndrome A
Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Mandibular prognathia, Kyp... OMIM:216400
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Cleft palate, Microphthalmia, Anophthalmia, Agenesis of corpus... OMIM:164180
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Microcephaly, Failure to thrive, Submucous cleft hard palate OMIM:619239
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Joint laxity, Mandibular progna... ORPHA:439822
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Macrocephaly, Hypoplasia of t... OMIM:607812
Trisomy 13
Scoliosis, Long philtrum, Kyphosis, Anophthalmia, Abnormality of the dentition, Aplasia/Hypoplasi... ORPHA:3378
Marden-Walker Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Joint stiffness, Micrognathia, Radio... ORPHA:2461
Congenital Varicella Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Mandibular prognathia, Increased bone mineral densi... ORPHA:2658
Peters-Plus Syndrome
Scoliosis, Thin vermilion border, Craniosynostosis, Agenesis of maxillary lateral incisor, Joint ... OMIM:261540
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microretrognathia, Microglossia, Short stature, Cleft palate, Ma... ORPHA:1307
Childhood Apraxia Of Speech
Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Caudate atrophy, Submucous cl... ORPHA:209908
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Spina bifida occulta, Short stature, Microcephaly, Retrogna... OMIM:619227
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Proportionate short stature, Deep philtrum, Camptodac... OMIM:227330
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Wide anterior fontanel, Decreased calvarial ossification, Natal tooth, Hamartoma of t... OMIM:617925
Mohr Syndrome
Scoliosis, Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue nodul... OMIM:252100
Walker-Warburg Syndrome
Macrocephaly, Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypop... ORPHA:899
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Long philtrum, Abnormality of thalamus morphology, Downturned corners of mouth, Deep p... ORPHA:404440
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Flexion contracture, High palate, Agenesis of corpus callosum, Hypoplasia of the maxilla OMIM:218000
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Scoliosis, Long philtrum, Progressive microcephaly, Cerebellar hypoplasia, Decreased body weight,... OMIM:300749
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Scoliosis, Long philtrum, Downturned corners of mouth, Microretrognathia, Deep philtrum, Inferior... OMIM:618571
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Basal ganglia calcification, Short stature, Dental malocclus... OMIM:259730
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Sacral dimple, Postnatal g... OMIM:223370
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Joint hypermobility, Hypoplasia of the brainstem, Thoracic ... ORPHA:481152
Frontorhiny
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic fronta... ORPHA:391474
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Dentinogenesis imperfect... OMIM:616294
Moebius Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short neck, Camptodactyly, Abnor... OMIM:157900
Craniotelencephalic Dysplasia
Craniosynostosis, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, ... ORPHA:1528
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal form of the vertebral bodies, Hypoplasia of the ma... ORPHA:93262
Greenberg Dysplasia
Epiphyseal stippling, Intestinal malrotation, Abnormal pelvis bone ossification, Multiple prenata... OMIM:215140
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Short neck, Downturned corners of mouth, Cr... ORPHA:1299
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Mandibular prognathia, Deep philtrum, Thin upper lip vermilion, Microphthalmia, Si... OMIM:152950
Solitary Median Maxillary Central Incisor
Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cleft upper lip, Anop... OMIM:147250
Nance-Horan Syndrome
Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Scoliosis, Oligodontia, Joint hypermobility, Dental crowding, Pierre-Robin seq... OMIM:619184
Angelman Syndrome
Scoliosis, Macroglossia, Drooling, Mandibular prognathia, Wide mouth, Obesity, Protruding tongue,... OMIM:105830
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Hypoplasia of the corpus callosum, Tented upper lip vermilion, Microphthalmia, Hig... OMIM:614105
Zttk Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... OMIM:617140
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Joint hyperflexibili... ORPHA:2554
Meier-Gorlin Syndrome 4
Narrow mouth, Thick lower lip vermilion, Birth length less than 3rd percentile, Failure to thrive... OMIM:613804
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Micrognathia, Duodenal stenosis, Limitation of joint mob... ORPHA:2547
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... OMIM:616367
Carpenter Syndrome 1
Scoliosis, Short neck, Agenesis of permanent teeth, Lambdoidal craniosynostosis, Aplasia/Hypoplas... OMIM:201000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, Short stature, Simplified gy... OMIM:251270
Fryns Microphthalmia Syndrome
Microphthalmia, Abnormality of the vertebral column, Bilateral cleft lip and palate, Anophthalmia OMIM:600776
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Rieger anomaly, Short stature, Macrocephaly, Malar flattenin... OMIM:109120
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Six lumbar vertebrae, Unilateral cleft lip, Micrognathia, Unilateral cleft p... OMIM:619122
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Postnatal growth retardation, Hemivertebrae, Hi... OMIM:213980
Mucopolysaccharidosis, Type Ix
Bifid uvula, Short stature, Submucous cleft hard palate OMIM:601492
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Partial agenesis of the corpus callosum, Mandibular prognathia, Wide mouth,... OMIM:619103
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Short stature, Submucous cleft hard palate OMIM:609166
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Narrow mouth, Camptodactyly, Secondary microcephaly, Smooth phil... OMIM:608156
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Rectovaginal fistula, High palate, Mi... ORPHA:861
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, J... OMIM:311450
Weill-Marchesani Syndrome 1
Scoliosis, Broad skull, Tooth malposition, Narrow palate, Abnormality of dental morphology, Propo... OMIM:277600
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Cleft palate, Secondary microcephaly, Micrognathia, Malar flattening, Accessory or... ORPHA:79113
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Growth delay, Cerebral cortical atrophy, Microphthalmia, Microcephaly, Retro... OMIM:234050
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Joint hypermobility, Short neck, Narrow mouth, Dental crowding, Thin u... OMIM:300990
Acrodysostosis
Open bite, Delayed eruption of teeth, Epiphyseal stippling, Open mouth, Abnormal form of the vert... ORPHA:950
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Skin Creases, Congenital Symmetric Circumferential, 1
Short neck, Narrow mouth, Hypoplasia of the corpus callosum, Microphthalmia, Cleft palate, High p... OMIM:156610
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2323
Stevenson-Carey Syndrome
Scoliosis, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Hypoplasia of the co... OMIM:611961
Galloway-Mowat Syndrome 3
Hiatus hernia, Pachygyria, Narrow mouth, Hypoplasia of the corpus callosum, Camptodactyly, Cerebr... OMIM:617729
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Taurodontia, Abnormal cerebral white matter morphology, Joint c... OMIM:164200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the frontal sinuses, Lipoma of corpus callosum, Mi... ORPHA:306542
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia, Microcephaly, Severe postnatal growth retardation, Hypo... ORPHA:2399
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Cleft lip, Microphthalmia, Cleft palate, High palate, Dental malocclusion, P... OMIM:603457
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Intrauterine growth retardation, Microphthalmia, Coronal craniosyno... ORPHA:228390
Crouzon Disease
Narrow palate, Hypoplasia of the maxilla, Cerebellar hypoplasia, Multiple suture craniosynostosis... ORPHA:207
3Q29 Microdeletion Syndrome
Short philtrum, Dental crowding, Joint hyperflexibility, Everted lower lip vermilion, Abnormality... ORPHA:65286
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Microphthalmia, Tooth agenesis ORPHA:1135
Amish Lethal Microcephaly
Osteoporosis, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Decreased skull ossifica... ORPHA:99742
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Cortical dysplasia, Microphthalmia, Cleft palate, Tracheoesophagea... ORPHA:261272
Warburg Micro Syndrome 4
Long philtrum, Narrow mouth, Hypoplasia of the corpus callosum, Flexion contracture, Cerebral cor... OMIM:615663
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Colpocephaly, Agenesis of corpus callosum, Thoracic hemivertebrae, Solitary ... OMIM:301043
3Mc Syndrome 1
Wide anterior fontanel, Lambdoidal craniosynostosis, Dental crowding, Radioulnar synostosis, Grow... OMIM:257920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Talon cusp, Narrow palate, Joint laxity, Dental crowding, Growth delay, Natal toot... ORPHA:353281
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Punctate vertebral calcifications, Postnatal growth retardation,... OMIM:302960
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Myhre Syndrome
Platyspondyly, Thin vermilion border, Narrow mouth, Craniofacial hyperostosis, Mandibular prognat... ORPHA:2588
Keipert Syndrome
Tented upper lip vermilion, Short stature, Macrocephaly, Exaggerated cupid's bow, Hypoplasia of t... ORPHA:2662
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ver... ORPHA:438216
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Hypoplasia of the maxilla OMIM:122880
W Syndrome
Agenesis of maxillary central incisor, Camptodactyly, Upper lip pit, Broad uvula, Submucous cleft... ORPHA:2804
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Macrocephaly, Open mouth, Everted lower lip vermilion, Diastema, Wide mout... OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Cavum septum pellucidum, Short philtrum, Hypoplasia of the corpus callosum, Mandibular... ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Scoliosis, Hypoplasia of the brainstem, Type II lissencephaly, Flexion contracture, Cerebellar hy... OMIM:615249
Microphthalmia, Lenz Type
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Camptodactyly of finger, Aplasia/Hypoplasia ... ORPHA:568
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Delayed eruption of teeth, Metatarsal osteolysis, Camptodactyly of toe, C1-C2 sublu... OMIM:259600
Fontaine Progeroid Syndrome
Scoliosis, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Small for gestatio... OMIM:612289
Congenital Toxoplasmosis
Failure to thrive in infancy, Microphthalmia, Cerebral calcification, Intrauterine growth retarda... ORPHA:858
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93324
Cousin Syndrome
Disproportionate short stature, Micrognathia, Rhizomelia, Camptodactyly, Microglossia, Wrist flex... OMIM:260660
Tetrasomy 5P
Long philtrum, Short neck, Wide anterior fontanel, Lipoma of corpus callosum, Cerebellar hypoplas... ORPHA:3309
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Cleft upper lip, Cleft palate, Agenesis of corpus callosum OMIM:614402
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis, Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conic... ORPHA:73223
Orofaciodigital Syndrome Type 4
Oral cleft, Cerebral cortical atrophy, Rectovaginal fistula, High, narrow palate, Micrognathia, C... ORPHA:2753
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Smooth philtrum, Microphthalmia, Cleft soft palate, Micrognathia OMIM:614526
Acrofacial Dysostosis, Cincinnati Type
Decreased body weight, Short stature, Cleft palate, Microcephaly, Retrognathia, Micrognathia, Hyp... OMIM:616462
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Joint laxity, Open mouth, Dental crowding, Deep philtrum, Flexion contracture, Th... OMIM:309520
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos, Sacral dimple, Hemivertebrae, Anal atresia, ... OMIM:619318
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Microretrognathia, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Hypopla... OMIM:616300
Focal Dermal Hypoplasia
Enamel hypoplasia, Delayed eruption of teeth, Oligodontia, Hiatus hernia, Scoliosis, Joint laxity... OMIM:305600
Holoprosencephaly 2
Scoliosis, Median cleft lip and palate, Cerebellar hypoplasia, Anterior pituitary agenesis, Solit... OMIM:157170
Non-Specific Syndromic Intellectual Disability
Scoliosis, Long philtrum, Thin vermilion border, Joint hypermobility, Narrow mouth, Frontal corti... ORPHA:528084
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Microphthalmia, Short stature, Cleft palate, Microcephaly, Micrognathia ORPHA:2505
Frontofacionasal Dysplasia
Oral cleft, Microphthalmia, Cleft upper lip, Bifid uvula, Hypoplasia of the frontal bone, Malar f... OMIM:229400
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... OMIM:218670
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Macroglossia, Diffuse white matter abnormalities, Type II lissenceph... ORPHA:370959
Joubert Syndrome 14
Short philtrum, Open mouth, Growth delay, Tented upper lip vermilion, Microphthalmia, Malar flatt... OMIM:614424
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Macrocephaly, Hypoplasia of teeth, Open mou... OMIM:200990
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Macroglossia, Hypoplasia of the corpus callosum, Deep philtrum, Kyphosis, Wide mouth, ... OMIM:619194
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Short stature, Simplified gyral pa... OMIM:617914
Mosaic Trisomy 1
Camptodactyly of finger, Agenesis of corpus callosum, Microretrognathia, Cerebellar vermis hypopl... ORPHA:1692
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Hypoplasia of the maxilla ORPHA:1529
Fanconi Anemia, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:614082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Scoliosis, Hypoplasia of the brainstem, Macroglossia, Buphthalmos, Pachygyria, Type II lissenceph... OMIM:613150
Noonan Syndrome 1
Short neck, Dental malocclusion, Synovitis, Failure to thrive in infancy, Postnatal growth retard... OMIM:163950
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Macrocephaly, Micrognathia, Osteopetrosis, Microphthalmia OMIM:617306
Rere-Related Neurodevelopmental Syndrome
Scoliosis, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Postnatal growth reta... ORPHA:494344
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Narrow mouth, Abnormal periventricular white matter morphology, Cortical dyspla... ORPHA:468631
Williams Syndrome
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Joint laxity, Failure to ... ORPHA:904
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Anophthalmia, Microphthalmia, Cleft pa... ORPHA:2250
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature, Obesity ORPHA:141333
Kapur-Toriello Syndrome
Scoliosis, Camptodactyly of finger, Pachygyria, Intestinal malrotation, Intrauterine growth retar... OMIM:244300
Distal Xq28 Microduplication Syndrome
Open mouth, Dental crowding, Short lingual frenulum, Short stature, High palate, Thick lower lip ... ORPHA:293939
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Esophageal atres... OMIM:206900
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Dental crowding, Mandibular prognathia, Short neck, Malar flattening, Hypoplasi... OMIM:101120
Monosomy 9Q22.3
Long philtrum, Delayed eruption of teeth, Short neck, Narrow mouth, Odontogenic keratocysts of th... ORPHA:77301
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Open mouth, Dental crowding OMIM:600906
Rothmund-Thomson Syndrome, Type 2
Osteoporosis, Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandib... OMIM:268400
Galloway-Mowat Syndrome 1
Hiatus hernia, Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Campto... OMIM:251300
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Conical incisor, Synostosis of carpal bones, Ab... ORPHA:289
Mosaic Trisomy 9
Scoliosis, Camptodactyly of finger, Short neck, Biparietal narrowing, Intestinal malrotation, Hem... ORPHA:99776
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Intestinal malrotation,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Intestinal malrotation,... ORPHA:353277
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor, Impaired mastication, Kyphoscol... ORPHA:466722
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Joint laxity OMIM:608763
Nanophthalmos
Microphthalmia ORPHA:35612
Axenfeld-Rieger Syndrome
Anal stenosis, Everted lower lip vermilion, Growth delay, Aplasia/Hypoplasia of the iris, Hypodon... ORPHA:782
Myhre Syndrome
Narrow mouth, Mandibular prognathia, Camptodactyly, Birth length less than 3rd percentile, Small ... OMIM:139210
Cerebrofacioarticular Syndrome
Narrow mouth, Anal stenosis, Hypoplasia of the corpus callosum, Camptodactyly, Cerebellar vermis ... ORPHA:314679
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Downturned corners of mouth, Open mouth, Mandibular prognathia, Camptodactyly, Wide... ORPHA:369891
Cowden Syndrome 5
Scoliosis, Progressive macrocephaly, Narrow mouth, Kyphosis, Furrowed tongue, Colonic diverticula... OMIM:615108
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Short neck, Narrow mouth, Downturned corners of mouth, A... ORPHA:284160
Marshall Syndrome
Long philtrum, Thick lower lip vermilion, Hypoplastic frontal sinuses, Thick upper lip vermilion,... ORPHA:560
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Recurrent fractures, Osteopenia, Increased susceptibility to f... OMIM:166200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Abnormal form of the vertebral bodies, Neonatal short-trunk short statur... ORPHA:2839
Aicardi Syndrome
Scoliosis, Hiatus hernia, Prominence of the premaxilla, Cavum septum pellucidum, Pachygyria, Part... OMIM:304050
Cat-Eye Syndrome
Intrauterine growth retardation, Anal atresia, Microphthalmia, Short stature ORPHA:195
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Long philtrum, Tarsal synostosis, Abnormal f... ORPHA:1106
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Proportionate short stature, Natal tooth, Recurrent frac... ORPHA:2108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Abnormal cerebral white matter mo... OMIM:613153
Hartsfield Syndrome
Craniosynostosis, Cleft upper lip, Cleft palate, Microcephaly, Hypoplasia of the frontal bone, Ag... OMIM:615465
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Decreased body weight, Optic nerve hypopla... OMIM:609053
Meier-Gorlin Syndrome 5
Long philtrum, Birth length less than 3rd percentile, Failure to thrive, Short stature, Intrauter... OMIM:613805
Stromme Syndrome
Stillbirth, Cerebellar vermis hypoplasia, Intestinal malrotation, Wide mouth, Jejunal atresia, Ce... OMIM:243605
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Osteoporosis, Intervertebral disc degeneration, Camptodactyly of finger, Joint laxity,... ORPHA:284984
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Rhizomelia, Intrauterine growth retardation, Microphthalmia, Decreased skull ossif... OMIM:300863
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Triangular mouth, Small for gestational age, Microphthalmia, Short stature, ... OMIM:601675
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Hypoplasia of the corpus callosum, Mandibular prognathia, Jo... OMIM:618914
Fryns Syndrome
Long philtrum, Short neck, Agenesis of corpus callosum, Intestinal malrotation, Wide mouth, Non-m... ORPHA:2059
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Odontogenic keratocysts of the jaw, Mandibular p... OMIM:109400
Jackson-Weiss Syndrome
Mandibular prognathia, Abnormal palate morphology, Hypoplasia of the maxilla ORPHA:1540
Cowden Syndrome 6
Scoliosis, Progressive macrocephaly, Narrow mouth, Kyphosis, Furrowed tongue, Colonic diverticula... OMIM:615109
Cardioacrofacial Dysplasia 1
Short philtrum, Diastema, Conical tooth, Accessory oral frenulum, Hypoplasia of the maxilla OMIM:619142
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Microcephaly, Broad philtrum... ORPHA:1942
Fraser Syndrome
Dental crowding, Anal stenosis, Microcephaly, Oral cleft, Ectopic anus, Anal atresia, Bifid tongu... ORPHA:2052
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Growth delay, Diastema, Short upper lip, Microphthalmia, Short neck, Malar flatteni... OMIM:271960
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Scoliosis, Camptodactyly of finger, Mandibular prognathia, Abnormal palate morphology, Lip pit, H... ORPHA:1236
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Kapur-Toriello Syndrome
Pachygyria, Intestinal malrotation, Oral cleft, Dysplastic corpus callosum, Polymicrogyria, Micro... ORPHA:2328
Meier-Gorlin Syndrome 1
Narrow mouth, Thick lower lip vermilion, Joint laxity, Camptodactyly, Flexion contracture, Microc... OMIM:224690
Aicardi Syndrome
Scoliosis, Hiatus hernia, Short philtrum, Prominence of the premaxilla, Aplasia/Hypoplasia of the... ORPHA:50
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Microretrognathia, Cleft lower alveolar ridge, Pierre-Robin sequence, Aplasia of th... OMIM:268305
Crouzon Syndrome
Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, Sagittal craniosynostosis, A... OMIM:123500
Nager Syndrome
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Joint stiffness, Hypoplasia of the... ORPHA:245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Absent septum pellucidum, Mandibular prognathia, Esopha... ORPHA:87
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Bicoronal synost... OMIM:604757
Stickler Syndrome
Open bite, Scoliosis, Abnormal dental enamel morphology, Micrognathia, Osteoarthritis, Hypoplasia... ORPHA:828
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Oral cleft, Abnormally ossified vertebrae, Anal atresia, Septo-optic dysplasia, Mic... ORPHA:3301
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Microphthalmia, Cleft palate, Intrauterine growth... OMIM:611134
Weill-Marchesani Syndrome 2
Scoliosis, Broad skull, Tooth malposition, Narrow palate, Abnormality of dental morphology, Propo... OMIM:608328
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Microphthalmia, Short stature,... ORPHA:2788
Shprintzen-Goldberg Syndrome
Scoliosis, Camptodactyly of finger, Craniosynostosis, Abnormal form of the vertebral bodies, Join... ORPHA:2462
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Anal atresia, Microphthalmia, Intrauterine growth retardation, Microcephaly, Anteri... ORPHA:1352
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Hyperlordosis, Craniosynostosis, Narrow palate, Abnormal form of the verteb... ORPHA:794
Holoprosencephaly
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Failure to thrive in infancy,... ORPHA:2162
Spondylospinal Thoracic Dysostosis