banner
Genes Phenotypes Help, News, Blog

Gene: Foxn3 MGI:1918625

Log in to follow

Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Foxn3em1(IMPC)Bay HOM   Early adult 0.00
decreased prepulse inhibition Foxn3em1(IMPC)Bay HET   Early adult 6.07×10-07

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.

X-ray

XRay Images Skull Lateral Orientation

8 Images

View images
Eye Morphology

VIP of right fundus

16 Images

View images
Eye Morphology

VIP of left fundus

16 Images

View images
Eye Morphology

VIP of left eye

16 Images

View images
Eye Morphology

VIP of right eye

16 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View 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
Narrow mouth, Micrognathia, Macrocephaly, Dental crowding, Glossoptosis, Ankylosis, Mandibular co... OMIM:614669
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Larsen-Like Syndrome
Dental malocclusion, Joint laxity, Short stature, Malar flattening, Macrocephaly, Kyphoscoliosis,... OMIM:608545
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Micrognathia, Microcephaly, Increased overbit... OMIM:613684
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Micrognathia, Microcephaly, Microphthalmia, Arthrogryposis multi... OMIM:616570
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Kyphosis, Open bite, Micrognathia, Scoliosis, Short s... ORPHA:2471
Fryns Macrocephaly
Short upper lip, Short philtrum, Cerebral atrophy, Short neck, Everted lower lip vermilion, Trunc... OMIM:600302
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Craniosynostosis 3
Right unicoronal synostosis, Left unicoronal synostosis, Sagittal craniosynostosis, Partial agene... OMIM:615314
Amelogenesis Imperfecta
Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impaired mastication, Hypoplas... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Kyphoscoliosis, Dental malocclusion, Short stature OMIM:615541
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Long philtrum, Thin upper lip vermilion, Abnormality of the dentition, Cleft soft ... OMIM:616331
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis, Short stature, Mandibular prognathia, Abnormality of the dentition, Dental m... ORPHA:1858
Alpha-Mannosidosis
Kyphosis, Short neck, Open bite, Craniofacial hyperostosis, Widely spaced teeth, Macroglossia, Sc... ORPHA:61
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Cerebellofaciodental Syndrome
Short neck, Cerebellar hypoplasia, Microcephaly, Scoliosis, Short stature, Hypoplasia of the pons... OMIM:616202
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Widely-spaced maxillary central incisors, Lumbar hyperlordosis, Scol... OMIM:619719
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Potocki-Lupski Syndrome
High palate, Hypoplasia of the corpus callosum, Small for gestational age, Micrognathia, Microcep... OMIM:610883
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Hemifacial Atrophy, Progressive
Tongue atrophy, Kyphosis, Delayed eruption of teeth, Dental malocclusion, Short mandibular rami OMIM:141300
Mental Retardation, Buenos Aires Type
High palate, Carious teeth, Microcephaly, Partial agenesis of the corpus callosum, Failure to thr... OMIM:249630
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Macrocephaly, Dental crowding, Anterior open-bi... OMIM:602483
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Pycnodysostosis
Micrognathia, Scoliosis, Decreased response to growth hormone stimulation test, High palate, Cere... ORPHA:763
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, High palate, Bifid uvula, Osteopenia, Delayed eruption of teeth, Campto... OMIM:612350
Intermediate Osteopetrosis
Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susceptibility to fractur... ORPHA:210110
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia, Median cleft palate OMIM:248110
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Growth delay, Microcephaly, Microphthalmia, Short stature, Retrognathia ORPHA:2528
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Sacral dimple, Abnormal form of the vertebral bodies, Open bite, Intra... ORPHA:1327
Van Maldergem Syndrome 1
Tracheomalacia, Tented upper lip vermilion, Micrognathia, Scoliosis, High palate, Anal atresia, S... OMIM:601390
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Microcephaly, Microphthalmia, Failure to thrive, Short stature, Macrod... OMIM:617883
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Seckel Syndrome 1
High palate, Elbow flexion contracture, Intrauterine growth retardation, Enamel hypoplasia, Abnor... OMIM:210600
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Kyphosis, Joint laxity, Thick lower lip vermilion, Obesity, Max... OMIM:300431
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Dental malocclusion, High, narrow palate OMIM:619692
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Agenesis of corpus callosum, Elbow flexion contracture, Cerebellar hypoplasia, Ost... OMIM:214150
Cofs Syndrome
Cerebral calcification, Short neck, Joint stiffness, Intrauterine growth retardation, Everted low... ORPHA:1466
Warburg Micro Syndrome 1
Narrow mouth, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Perisylvian p... OMIM:600118
Three M Syndrome 2
High palate, Short neck, Long philtrum, Delayed eruption of teeth, Small for gestational age, Sev... OMIM:612921
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Sacral dimple, Tracheomalacia, Osteopenia, Joint laxity, Tented... OMIM:615546
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Osteopenia, Progressive microcephaly, Cerebellar hypoplasia, Contractures of the lar... ORPHA:329178
Marden-Walker Syndrome
Long philtrum, Cerebellar hypoplasia, High, narrow palate, Micrognathia, Microcephaly, Dandy-Walk... OMIM:248700
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Joint laxity, Thick lower lip vermilion, Obesity, Max... OMIM:300602
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia, Arthrogryposis multiplex congenita OMIM:608931
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Harrod Syndrome
Narrow mouth, High palate, Kyphosis, Intrauterine growth retardation, Microcephaly, Scoliosis, Fa... ORPHA:2115
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Kyphoscoliosis, Decrea... OMIM:264475
Momo Syndrome
Large for gestational age, High palate, Short neck, Long philtrum, Delayed eruption of teeth, Thi... ORPHA:2563
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Proportionate short stature, Discolored lateral incisors, Conical mandibu... OMIM:601668
Mmep Syndrome
Microcephaly, Microphthalmia, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Hypoplasia of teeth, Micrognathia, Hypopl... OMIM:257850
Mulibrey Nanism
Hypoplastic frontal sinuses, Intrauterine growth retardation, Enamel hypoplasia, Thickened cortex... OMIM:253250
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, High palate, Open bite, Microcephaly, Abnormality of dental morphology, Sho... ORPHA:3079
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Long philtrum, Increased bone... ORPHA:163649
Pierpont Syndrome
Abnormal cortical gyration, Short neck, Small for gestational age, Joint laxity, Everted lower li... ORPHA:487825
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Supernumerary tooth, High, narrow palate, M... ORPHA:2980
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short neck, Micrognathia, Short stature, Malar flattening, Dental malocclusion, Diastema ORPHA:436245
Cohen Syndrome
Short philtrum, Thoracic scoliosis, Small for gestational age, Delayed puberty, Cerebellar hypopl... OMIM:216550
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microcephaly, Hypoplasia of the brainstem, Microphthalmia, Cortical dyspla... OMIM:615771
2Q24 Microdeletion Syndrome
Short philtrum, Short neck, Camptodactyly of finger, Small for gestational age, Growth delay, Mic... ORPHA:1617
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Obesity, Maxillary lateral incisor microdontia, Short stature, Abnor... ORPHA:1193
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Microcephaly, Simplified gyral p... OMIM:616171
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Sacral dimple, Long philtrum, Incisor macrodontia, Microcephaly, Short stature, Thi... OMIM:615502
Mcdonough Syndrome
Short philtrum, Micrognathia, Furrowed tongue, Short stature, Mandibular prognathia, Kyphoscolios... OMIM:248950
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Osteopenia, Abnormally large globe, Microdontia, Carious t... OMIM:269300
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Long philtrum, Delayed eruption of teeth, Ivory epiphyses of the distal phalanges of ... OMIM:190350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Joint stiffness, Rhizomelia, Platyspondyly, Scoliosis, Postnatal growth r... OMIM:608940
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Short neck, Decreased body weight, Cleft lip, Wrist flexi... OMIM:619110
Myopathy, Myofibrillar, 8
Achilles tendon contracture, High palate, Distal joint laxity, Impaired mastication, Micrognathia... OMIM:617258
Pierpont Syndrome
Decreased body weight, Short neck, Everted lower lip vermilion, Widely spaced teeth, Prominent me... OMIM:602342
Multiple Epiphyseal Dysplasia, Lowry Type
Rhizomelia, Micrognathia, Knee flexion contracture, Scoliosis, Short stature, Fixed elbow flexion... ORPHA:166016
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Disproportionate short-limb short stature, Delayed eruption of tee... OMIM:101800
Ritscher-Schinzel Syndrome 3
Epiphyseal stippling, Relative macrocephaly, Micrognathia, Microphthalmia, Poorly ossified verteb... OMIM:619135
Muenke Syndrome
High palate, Coronal craniosynostosis, Malar flattening, Macrocephaly, Dental malocclusion, Capit... OMIM:602849
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Thoracic scoliosis, Bifid uvula, Osteopenia, Multiple joint contracture... ORPHA:2959
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Microdontia, Generalized joint laxity, Micrognathia, Microcephaly, Abnormality of ... ORPHA:251028
Frank-Ter Haar Syndrome
Broad alveolar ridges, High palate, Dental malocclusion, Cortical irregularity, Kyphosis, Osteope... OMIM:249420
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Increased density of long bone diaphyses, Partial fusion of tar... OMIM:305620
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Craniosynostosis, Osteopenia, Joint laxity, C1-C2 vertebral abn... OMIM:182212
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Intrauterine growth retardation, Abnormality of the cervical spine, Osteoporosis, Micro... ORPHA:48431
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia, Vertebral fusion, Vertebral segmentation defect, Clef... OMIM:221950
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Joint laxity, Microdontia, Wide... OMIM:619293
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Amelogenesis imperfecta, Intervertebral space narrowing, Oli... OMIM:601216
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Short neck, Small for gestational age, Thick lower lip ... OMIM:123450
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Microcephaly, Retrognathia, Mandibular pr... ORPHA:2521
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Platyspondyly, Hypoplasia of the maxilla, Short stature, Osteoporosis of vertebra... OMIM:156510
Baraitser-Winter Syndrome 2
Short neck, Long philtrum, Agenesis of corpus callosum, Microphthalmia, Lissencephaly, Short stat... OMIM:614583
Heart And Brain Malformation Syndrome
Cerebral atrophy, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Everted lower ... OMIM:616920
Seckel Syndrome 2
Small for gestational age, Cerebellar hypoplasia, Microdontia, Growth delay, Micrognathia, Microg... OMIM:606744
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia, Median cleft palate ORPHA:2432
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Intrauterine growth retardation, Joint laxi... OMIM:269880
Intellectual Disability, Birk-Barel Type
Short philtrum, Sacral dimple, Contractures involving the joints of the feet, Open mouth, Tented ... ORPHA:166108
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Short stature, Kyphoscoliosis, Diastema OMIM:300915
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Microcephaly, Microphthalmia, Mandibul... OMIM:601349
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Short neck, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Gro... ORPHA:3473
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Micrognathia, Microglossia, Abnormality of the te... ORPHA:137888
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Microdontia, Hypoplasia of the maxilla, Scoliosis, Patchy distorti... ORPHA:1248
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Abnormally large gl... ORPHA:363417
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Momo Syndrome
High palate, Short neck, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Obe... OMIM:157980
Cerebellar-Facial-Dental Syndrome
Short neck, Long philtrum, Contractures involving the joints of the feet, Infancy onset short-tru... ORPHA:444072
Chromosome 16Q22 Deletion Syndrome
High palate, Short neck, Small for gestational age, Growth delay, Micrognathia, Microcephaly, Fai... OMIM:614541
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased body weight, Small for gestational age, Anal atresia, Hypoplasia of the maxilla, Microc... ORPHA:93950
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Faciothoracogenital Syndrome
Long philtrum, Micrognathia, Microphthalmia, Smooth philtrum, Thin upper lip vermilion OMIM:227320
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Kabuki Syndrome 2
High palate, Decreased body weight, Intrauterine growth retardation, Lower lip pit, Joint laxity,... OMIM:300867
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus c... ORPHA:2409
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Kyphosis, Slender build, Cerebellar vermis hypoplasia, Open mout... ORPHA:364028
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Short neck, Distal arthrogryposis, Decreased hip abduction, Camptodacty... OMIM:114300
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Optic nerve hypopla... OMIM:610829
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, Increased bone mineral density, S... ORPHA:2780
Hallermann-Streiff Syndrome
Tracheomalacia, Everted lower lip vermilion, High, narrow palate, Micrognathia, Microcephaly, Sco... OMIM:234100
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Everted lower lip vermilion, Thick lower lip vermilion, Micrognathia, Microcephaly, Short stature... ORPHA:85321
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Microphthalmia, Bilateral cleft lip and palate, Wide anter... OMIM:619339
Liang-Wang Syndrome
Cerebral atrophy, Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary c... OMIM:618729
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Short philtrum, Decreased body weight, Camptodactyly of fing... OMIM:610758
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Craniofacial osteosclerosis, Micrognathia, Scoliosis, Macrocephaly, ... OMIM:300373
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Hajdu-Cheney Syndrome
Long philtrum, Osteoporosis, Micrognathia, High palate, Short neck, Intestinal malrotation, Short... OMIM:102500
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Velopharyngeal insufficiency, Carious teeth, Thick upper lip vermilio... ORPHA:363444
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Cavum septum pellucidum, Osteolytic defects of the distal p... OMIM:614008
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Spondylolisthesis... OMIM:617877
Schwartz-Jampel Syndrome
Abnormally straight spine, Long philtrum, Trismus, Everted lower lip vermilion, Osteoporosis, Mic... ORPHA:800
Monosomy 18P
Short philtrum, Short neck, Hypodontia, Carious teeth, Micrognathia, Microcephaly, Microphthalmia... ORPHA:1598
Oliver Syndrome
Short philtrum, High palate, Elbow flexion contracture, Intrauterine growth retardation, Knee fle... ORPHA:2920
Fetal Alcohol Syndrome
Biparietal narrowing, Joint stiffness, Intrauterine growth retardation, Non-midline cleft lip, Mi... ORPHA:1915
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Median cleft lip OMIM:619452
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Kyphosis, Slender build, Hypoplasia of the maxilla, Scoliosis, Mandibular prognathia... OMIM:300676
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Small for gestational age, Intrauterine growth retardation, Growth delay... OMIM:610756
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Enamel hypoplasia, Macrodontia, Hypodontia, Spinal can... OMIM:263540
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Short neck, Agenesis of corpus callosum, Rhizomelia, Decreased skull ossification... ORPHA:93267
Cardiofaciocutaneous Syndrome 1
High palate, Short neck, Osteopenia, Open bite, Aplasia/Hypoplasia of the corpus callosum, Open m... OMIM:115150
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Widely spaced teeth, Micrognathia, Knee flexion contracture, Microcephaly, Microphth... OMIM:619694
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Microcephaly, Basal ganglia calcification, Craniosynostosis OMIM:608432
Lujan-Fryns Syndrome
Short philtrum, High palate, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:776
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Abnormal mandible morphology, High, narrow palate, Submucous cleft hard palate, Micro... ORPHA:3201
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Microcephaly, Short stature, Postnatal growth retardation,... OMIM:619489
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Kyphosis, Short neck, Microdontia, Obesity, Micrognathia, Microphthal... ORPHA:3191
Baraitser-Winter Syndrome 1
Cleft upper lip, Short neck, Long philtrum, Agenesis of corpus callosum, Microcephaly, Lissenceph... OMIM:243310
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Progressive microcephaly, Subcortical band heterotopia, Hypoplasia of the... OMIM:618737
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Short stature, Malar flattening, Mandibular prognathia, Dental maloc... OMIM:603463
Noonan Syndrome 4
Large for gestational age, Thick vermilion border, Short neck, Scoliosis, Short stature, Macrocep... OMIM:610733
Craniofaciofrontodigital Syndrome
Short neck, Long philtrum, Hypoplastic vertebral bodies, Joint hypermobility, Short stature, Macr... OMIM:114620
Dysostosis, Stanescu Type
Cerebral calcification, Abnormal palate morphology, Kyphosis, Short neck, Increased bone mineral ... ORPHA:1798
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Growth delay, Microcephaly, Microphthalmia, Failur... OMIM:274270
Hydrolethalus
Bifid uvula, Anophthalmia, Agenesis of corpus callosum, Unilateral cleft lip, Anencephaly, Microg... ORPHA:2189
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Agenesis of corpus callosum, Pericallosal lipom... OMIM:136760
Temtamy Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion,... ORPHA:1777
Warburg Micro Syndrome 3
Flexion contracture, Micrognathia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Hypop... OMIM:614222
Cockayne Syndrome B
Severe short stature, Osteoporosis, Microcephaly, Mandibular prognathia, Intrauterine growth reta... OMIM:133540
Beaulieu-Boycott-Innes Syndrome
Microcephaly, Dental malocclusion, Carious teeth OMIM:613680
Apert Syndrome
Bifid uvula, Cerebellar hypoplasia, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, M... OMIM:101200
Takenouchi-Kosaki Syndrome
Short philtrum, Long philtrum, Progressive microcephaly, Cerebellar hypoplasia, Widely spaced tee... OMIM:616737
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Agenesis of permanent teeth, Kyphosis, Short neck, Long philtrum, Sacral dim... OMIM:616894
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Dysplastic corpus callosum, Decreased body weight, Flexion contracture, Agenesis of... OMIM:614833
Geroderma Osteodysplasticum
Osteopenia, Vertebral compression fracture, Recurrent fractures, Severe short stature, Periodonti... OMIM:231070
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Cerebral atrophy, Short neck, Progressive microcephaly, Failu... OMIM:611209
Neu-Laxova Syndrome
Abnormal cortical gyration, Bifid uvula, Trismus, Cerebellar hypoplasia, Everted lower lip vermil... ORPHA:2671
Sandestig-Stefanova Syndrome
High palate, Short neck, Intrauterine growth retardation, Small for gestational age, Primary micr... OMIM:618804
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... OMIM:617412
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Microdontia, Microphthalmia, Malar flattening, Den... OMIM:618727
Turnpenny-Fry Syndrome
Microdontia, Widely spaced teeth, Microcephaly, Mandibular prognathia, Thin upper lip vermilion, ... OMIM:618371
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Short stature, Osteolysis ORPHA:2776
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Kyphosis, Recurrent fracture... OMIM:259420
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Open bite, Optic nerve hypoplasia, Exaggerated cup... ORPHA:453504
Lessel-Kreienkamp Syndrome
Open mouth, Thin upper lip vermilion, Dental malocclusion OMIM:619149
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Open bite, Optic nerve hypoplasia, Exaggerated cup... ORPHA:352665
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Short neck, Long philtrum, Camptodactyly of finger, Submucous cleft hard palate... ORPHA:178303
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Severe short stature, Micrognathia, Microcephaly, Lissen... ORPHA:35107
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Long philtrum, Cavum septum pellucidum, Contrac... ORPHA:457279
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia, Growth delay, Small for gestational age OMIM:278780
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Aganglionic megacolon, Growth delay, Mic... ORPHA:85284
Aarskog-Scott Syndrome
Short neck, Long philtrum, Abnormality of the cervical spine, Cleft upper lip, Delayed eruption o... ORPHA:915
Harrod Syndrome
Narrow mouth, High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate... OMIM:601095
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency ORPHA:99772
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Short neck, Microcephaly, Microphthalmia, Cleft palate OMIM:613885
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Camptodactyly of finger, Hypoplasia of the maxilla, Microcephaly, Short stature, Mac... ORPHA:85279
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Microcephaly, Microphthalmia, Short stature, Vertebral segmentation defect, Clef... OMIM:612530
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Intrauterine growth retardation, Small fo... ORPHA:96184
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic ve... OMIM:269500
Phelan-Mcdermid Syndrome
High palate, Sacral dimple, Long philtrum, Widely spaced teeth, Micrognathia, Joint hypermobility... OMIM:606232
Spondyloenchondrodysplasia
Cerebral calcification, Kyphosis, Delayed eruption of teeth, Disproportionate short-trunk short s... ORPHA:1855
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Microdontia, Deep philtrum, Radioulnar synostosis, Talon cusp, Tarsal synostos... OMIM:605282
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Recurrent fractures, Increased susceptibility to fractur... OMIM:166220
Microphthalmia, Syndromic 2
Bifid uvula, Long philtrum, Radiculomegaly, Microcephaly, Dandy-Walker malformation, Scoliosis, C... OMIM:300166
7Q11.23 Microduplication Syndrome
Tracheomalacia, Cerebellar hypoplasia, Micrognathia, Retrognathia, Macrocephaly, Thin upper lip v... ORPHA:96121
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Cleft palate OMIM:246560
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Short neck, Carious teeth, Microdontia, Micrognathia, Microcephaly, Microphthalmia,... OMIM:616734
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ring Chromosome 10 Syndrome
Short neck, Long philtrum, Intrauterine growth retardation, Aganglionic megacolon, Micrognathia, ... ORPHA:1438
Nanophthalmos 4
Microphthalmia OMIM:615972
Faciocardiomelic Syndrome
Large for gestational age, Osteopenia, Long philtrum, Micrognathia, Microcephaly, Thin bony corte... OMIM:612731
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Periventricular leukomalacia, Small for gestational age OMIM:618302
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microdontia, Widely spaced teeth, Hypoplasia of teeth, Microceph... ORPHA:2728
Stickler Syndrome Type 1
Long philtrum, Osteoarthritis, Platyspondyly, Hypoplasia of the maxilla, Cleft palate, Joint hype... ORPHA:90653
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia, Macrocephaly ORPHA:397973
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathi... OMIM:225410
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Elsahy-Waters Syndrome
Abnormality of the vertebral column, High palate, Bifid uvula, Dental malocclusion, Long philtrum... OMIM:211380
Robinow Syndrome
Long philtrum, Micrognathia, Scoliosis, Macrocephaly, Hemivertebrae, Tooth malposition, Triangula... ORPHA:97360
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Long philtrum, Velopharyngeal insufficiency, Intestinal malrotation, Submucou... OMIM:614701
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Abnormal denta... ORPHA:49042
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Beaking of vertebral bodies, Osteoarthritis, Platys... OMIM:108300
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Osteoporosis, Disproportionate short-trunk short st... ORPHA:85194
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Intrauterine growth retardation, Small for gestational age, Slender build, Hypoplasia... OMIM:608154
Micro Syndrome
Short philtrum, High palate, Kyphosis, Joint stiffness, Intrauterine growth retardation, Aplasia/... ORPHA:2510
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, High, narrow palate, Micrognathia... ORPHA:193
Adams-Oliver Syndrome 2
Cerebral atrophy, Cerebellar hypoplasia, Micrognathia, Microcephaly, Microphthalmia, Macrocephaly... OMIM:614219
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Distal arthrogryposis, Long philtrum, Failure to thrive in infancy, Tented upper lip... OMIM:618975
Atelosteogenesis, Type Iii
Cervical kyphosis, Short neck, Rhizomelia, Micrognathia, Horizontal sacrum, Hypoplasia of the max... OMIM:108721
Hartsfield Syndrome
Craniosynostosis, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia of t... ORPHA:2117
Hamamy Syndrome
High palate, Craniosynostosis, Osteopenia, Long philtrum, Hypodontia, Micrognathia, Smooth philtr... OMIM:611174
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Enamel hypoplasia, Prominent frontal sinuses, Oligodontia, Joint laxity, Antegonial ... OMIM:170390
Microphthalmia With Limb Anomalies
High palate, Anophthalmia, Cleft upper lip, 4-5 metacarpal synostosis, Deep philtrum, Growth dela... OMIM:206920
Dubowitz Syndrome
High palate, Craniosynostosis, Sacral dimple, Delayed eruption of teeth, Anal stenosis, Intrauter... ORPHA:235
Osteogenesis Imperfecta
Fractures of the long bones, Cervical kyphosis, Osteoporosis, Decreased skull ossification, Micro... ORPHA:666
Premature Aging Syndrome, Penttinen Type
Osteopenia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Osteolytic defect... OMIM:601812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Short philtrum, High palate, Intrauterine growth retardation, Obesity, Micrognathia, Joint hyperm... ORPHA:254531
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Short neck, Intrauterine growth retardation, Aplasia/Hypoplasia o... OMIM:251230
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow mouth, Intestinal lymphangiectasia, Delayed eruption of teeth, Coronal craniosynostosis, O... OMIM:235510
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Decreased body weight, Hypoplasia of the maxilla, Short stature, Mandibular progn... ORPHA:93945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Dental malocclusion, Retrognathia OMIM:601552
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Microdontia, Carious teeth, Decreased skul... ORPHA:50814
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Hypoplasia of the maxilla, Short stature, Malar flattening, Macrocep... ORPHA:261295
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Short philtrum, Flexion contracture, Long philtrum, Widely spaced teeth, Tented upper lip vermili... ORPHA:487796
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Intrauterine growth retardation, Severe pos... ORPHA:73272
Cockayne Syndrome A
Cerebral atrophy, Kyphosis, Intrauterine growth retardation, Severe postnatal growth retardation,... OMIM:216400
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Osteopenia, Long philtrum, Delayed eruption of teeth, Joint laxity, Car... OMIM:607812
Rubinstein-Taybi Syndrome 1
Micrognathia, Microcephaly, Scoliosis, Retrognathia, Narrow mouth, High palate, Flexion contractu... OMIM:180849
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Bilateral microphthalmos, Anophthalmia, Microphthalmia OMIM:611638
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Micrognathia, Retrognathia OMIM:615524
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Progressive microcephaly, Small for gestational age, Hypoplasia of the maxilla,... OMIM:614261
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Microphthalmia, Dia... OMIM:302350
Saul-Wilson Syndrome
Intrauterine growth retardation, Platyspondyly, Micrognathia, Short stature, Postnatal growth ret... OMIM:618150
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Cleft mandible, Intrauterine growth retardation, Oligodontia, Agenesis of ... ORPHA:364577
3Q29 Microduplication Syndrome
Biparietal narrowing, Ectopic anus, High palate, Craniosynostosis, Short neck, Deep philtrum, Obe... ORPHA:251038
Meier-Gorlin Syndrome 5
Long philtrum, Intrauterine growth retardation, Micrognathia, Submucous cleft hard palate, Hypopl... OMIM:613805
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Sacral dimple, Camptodactyly of 2nd-5th fingers, Intraute... OMIM:211910
Campomelic Dysplasia
Absent sternal ossification, Long philtrum, Tracheomalacia, Poorly ossified cervical vertebrae, M... OMIM:114290
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Everted lower lip vermilion, Widely spaced teeth, Micr... ORPHA:192
Chromosome 13Q33-Q34 Deletion Syndrome
Tented upper lip vermilion, Micrognathia, Microcephaly, Dandy-Walker malformation, High palate, S... OMIM:619148
Arthrogryposis, Distal, Type 2A
Long philtrum, Microcephaly, Hypoplasia of the brainstem, Scoliosis, Mandibular prognathia, Narro... OMIM:193700
Localized Scleroderma
Flexion contracture, Abnormal bone structure, Short dental root, Abnormality of upper lip, Esopha... ORPHA:90289
Martsolf Syndrome 1
Short philtrum, High palate, Tracheomalacia, Joint laxity, Micrognathia, Hypoplasia of the maxill... OMIM:212720
Schilbach-Rott Syndrome
Narrow mouth, Bifid uvula, Micrognathia, Microcephaly, Submucous cleft hard palate, Short stature OMIM:164220
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Basal ganglia calcification, Short stature, Osteopetr... OMIM:259730
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Kyphosis, Long philtrum, Intestinal malrotation, Abnormal oral frenulum morphology, ... ORPHA:404440
Mend Syndrome
High palate, Kyphosis, Sacral dimple, Asymmetry of the mouth, Micrognathia, Dandy-Walker malforma... ORPHA:401973
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Joint laxity, Microphthalmia, Megalencephaly, Smooth philtrum, Polymicro... OMIM:602501
Xk Aprosencephaly Syndrome
Narrow mouth, Microcephaly, Microphthalmia, Anal atresia ORPHA:3469
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Cleft soft palate, Severe short stature, Disproportionate sh... ORPHA:93316
Microphthalmia, Lenz Type
Kyphosis, Delayed eruption of teeth, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus ca... ORPHA:568
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Microcephaly, Failure to thrive, Bifid uvula OMIM:619239
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Elevated circ... ORPHA:562
Cockayne Syndrome
Progressive microcephaly, Severe short stature, Scoliosis, Cerebral dysmyelination, Enamel hypopl... ORPHA:191
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Agenesis of corpus callosum, Enamel hypoplasia, Non-midline... ORPHA:2919
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Intrauterine growth retardation, Cerebellar hypoplasia, Rhizomelia, Micrognathia,... ORPHA:163966
Marshall Syndrome
Pierre-Robin sequence, Long philtrum, Calcification of falx cerebri, Thick lower lip vermilion, T... OMIM:154780
Aarskog-Scott Syndrome
Short neck, Cleft upper lip, Elevated circulating luteinizing hormone level, Hypoplasia of the od... OMIM:305400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Microcephaly, Failure to thrive, Malar flattening, Bilateral clef... OMIM:618874
3P25.3 Microdeletion Syndrome
Short philtrum, Sacral dimple, Deep philtrum, Cerebral white matter atrophy, High, narrow palate,... ORPHA:435638
Martin-Probst Syndrome
Thick lower lip vermilion, Micrognathia, Microcephaly, Short stature, Malar flattening, Dental ma... OMIM:300519
Coffin-Lowry Syndrome
High palate, Decreased body weight, Kyphosis, Open mouth, Hypodontia, Everted lower lip vermilion... OMIM:303600
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly, Joint contracture of the hand OMIM:608257
Cherubism
Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Multipl... OMIM:118400
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Intrauterine growth retardation, Joint laxity, Obesity, Micrognath... ORPHA:439822
Joubert Syndrome 37
High palate, Obesity, Joint hypermobility, Microphthalmia, Lumbar hyperlordosis, Short stature, H... OMIM:619185
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Oral cleft, Macrocephaly at birth, Microphthalmia, Type II lissencephaly ORPHA:324416
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Delayed eruption of teeth, Coronal craniosynostosi... OMIM:614188
Trisomy 13
Anophthalmia, Kyphosis, Long philtrum, Intrauterine growth retardation, High, narrow palate, Micr... ORPHA:3378
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Anophthalmia, Agenesis of corpus callosum, Cerebellar hy... ORPHA:899
Isolated Childhood Apraxia Of Speech
Caudate atrophy, Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Submucous cl... ORPHA:209908
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Dandy-Walker malformation, Microphthalmia, Hypoplasia ... OMIM:164180
Marden-Walker Syndrome
Bifid uvula, Cerebellar hypoplasia, Severe short stature, Micrognathia, Microcephaly, Scoliosis, ... ORPHA:2461
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Short neck, Esophageal diverticulum, Hamartoma of tongue, Anal ... OMIM:617925
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Submucous cleft hard palate, Microcephaly, Short s... OMIM:619227
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Decreased body weight, Flexion contracture, Micrognathia, Hypoplasia of the maxilla,... OMIM:300534
Peters-Plus Syndrome
Long philtrum, Widely spaced teeth, Exaggerated cupid's bow, Micrognathia, Microcephaly, Scoliosi... OMIM:261540
Moebius Syndrome
High palate, Bifid uvula, Short neck, Micrognathia, Hypoplasia of the brainstem, Microphthalmia, ... OMIM:157900
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Severe short stature, High, narrow palate, Scoliosis, Mandibular prognathia, Macroce... ORPHA:2658
Cole-Carpenter Syndrome 2
High palate, Lambdoidal craniosynostosis, Kyphosis, Osteopenia, Coronal craniosynostosis, Platysp... OMIM:616294
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Microglossia, Hypoplasia of the maxilla, Short stature, M... ORPHA:1307
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Hypopl... OMIM:166300
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Carious teeth, Meckel diverticulum, Natal tooth, Eclabion, Failu... OMIM:616395
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Sacral dimple, Delayed eruption of teeth, Intrauterine ... OMIM:223370
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, Agenesis of corpus callosum, Hypoplasia of the maxilla, Scoliosis OMIM:218000
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Agenesis of central incis... OMIM:252100
Frontorhiny
Hypoplastic frontal sinuses, Aplasia/Hypoplasia of the corpus callosum, Hypopituitarism, Pericall... ORPHA:391474
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, High palate, Flexion contracture, Long philtrum, Progressive microcephal... ORPHA:481152
Nance-Horan Syndrome
Microphthalmia, Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Joint stiffness, Intrauterine growth retardation, Enamel hypoplasia, Misal... OMIM:619184
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal palate morphology, Abnormal form of the vertebral bodies, Hy... ORPHA:93262
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Proportionate short stature, Trismus, Hyperextensible hand joints, Deep philtrum, Ve... OMIM:227330
Branchioskeletogenital Syndrome
Short philtrum, Bifid uvula, Short neck, Craniosynostosis, Abnormality of the cervical spine, Tho... ORPHA:1299
Carpenter Syndrome 1
High palate, Cerebral atrophy, Agenesis of permanent teeth, Short neck, Sacral dimple, Coronal cr... OMIM:201000
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermil... OMIM:619103
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Short stature, M... OMIM:251270
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Cleft upper lip, Anophthalmia, Anterior hypopituitaris... OMIM:147250
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Tented upper lip vermilion, Microcephaly, Microphthalmia, Hypoplasia ... OMIM:614105
Chondrodysplasia Punctata 2, X-Linked Dominant
Short neck, Rhizomelia, Epiphyseal stippling, Punctate vertebral calcifications, Dandy-Walker mal... OMIM:302960
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Microphthalmia, Duodenal stenosis, Camptodactyly of finger, Limitation of joint mob... ORPHA:2547
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Short stature, Bifid uvula OMIM:601492
Zttk Syndrome
Dysplastic corpus callosum, Bifid uvula, Cerebellar hypoplasia, Scoliosis, Intestinal atresia, Ma... OMIM:617140
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Micrognathia, Delayed eruption of primary teeth, Hypoplasia... OMIM:616367
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Agenesis of corpus callosum, Hypoplasia of the maxilla, Shor... OMIM:109120
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Thick lower lip vermilion, Deep philtrum, Microcephaly, Simplified gyral pattern, ... OMIM:152950
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Hypoplasia of teeth, Microcephaly, Partial agenesis of the corpus callosum, Microph... OMIM:234050
Fryns Microphthalmia Syndrome
Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Micrognathia, Joint hypermobility, Submucous cleft... OMIM:619122
Angelman Syndrome
Drooling, Widely spaced teeth, Obesity, Macroglossia, Hypoplasia of the maxilla, Scoliosis, Cereb... OMIM:105830
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Submucous cleft hard palate, Short stature, Branchial fistula OMIM:609166
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Micr... ORPHA:1528
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Microdontia, Vertebral hyperostosis, C... OMIM:164200
Weill-Marchesani Syndrome 1
Joint stiffness, Microspherophakia, Broad skull, Hypoplasia of the maxilla, Lumbar hyperlordosis,... OMIM:277600
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Microcephaly, Scoliosis, Macrocephaly, Decreased response to growth hormone stimula... OMIM:213980
Pallister W Syndrome
Broad uvula, Joint contracture of the hand, Agenesis of central incisor, Submucous cleft hard pal... OMIM:311450
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short neck, Long philtrum, Deep philtrum, Cleft lip, Microphthalmia, Scoliosis, Microretrognathia... OMIM:618571
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Short neck, Delayed eruption of teeth, Micrognathia, Joint hypermobili... OMIM:300990
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
3Mc Syndrome 1
Lambdoidal craniosynostosis, Sacral dimple, Cleft upper lip, Coronal craniosynostosis, Caudal app... OMIM:257920
Ear-Patella-Short Stature Syndrome
Narrow mouth, Bifid uvula, Craniosynostosis, Intrauterine growth retardation, Severe short statur... ORPHA:2554
Acrodysostosis
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Open bite, Open mouth, Epiphyse... ORPHA:950
Galloway-Mowat Syndrome 3
Narrow mouth, High palate, Hiatus hernia, Cerebral atrophy, Intrauterine growth retardation, Micr... OMIM:617729
Treacher-Collins Syndrome
Abnormality of the vertebral column, Open bite, Micrognathia, Retrognathia, Hypoplasia of the zyg... ORPHA:861
Meier-Gorlin Syndrome 4
Narrow mouth, Intrauterine growth retardation, Thick lower lip vermilion, Micrognathia, Microceph... OMIM:613804
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Osteoporosis, Decreased skull ossification, Micro... ORPHA:99742
Tetrasomy 5P
High palate, Short neck, Long philtrum, Cerebellar hypoplasia, Pericallosal lipoma, Micrognathia,... ORPHA:3309
Warburg Micro Syndrome 4
Narrow mouth, Flexion contracture, Long philtrum, Severe postnatal growth retardation, Perisylvia... OMIM:615663
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Coronal craniosynostosis, Conical tooth, Intrauterine growth retarda... ORPHA:228390
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flattening... ORPHA:79113
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Craniosynostosis, Short neck, Long philtrum, Abnormality of the dentit... OMIM:608156
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Cerebellar hypoplasia, Microphthalmia, Scoliosis, Hypoplasia... OMIM:611961
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Microphthalmia, Dental m... OMIM:603457
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Failure to thrive in infancy, Microcepha... ORPHA:858
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Cerebellar hypoplasia, Hypoplasia o... ORPHA:207
Autosomal Recessive Kenny-Caffey Syndrome
Intrauterine growth retardation, Carious teeth, Decreased skull ossification, Growth delay, Micro... ORPHA:93324
Keipert Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Short stature, Ma... ORPHA:2662
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, High palate, Short neck, Micrognathia, Microcephaly, Dandy-Walker malformation, Mic... OMIM:156610
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, High palate, Anterior rib punctate calcifications, Flexion contrac... ORPHA:35173
Congenital Disorder Of Glycosylation, Type Iia
Short neck, Osteopenia, Thoracolumbar kyphoscoliosis, Macrodontia, Open mouth, Everted lower lip ... OMIM:212066
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Vertebral compression fracture, Metatarsal osteolysis, Car... OMIM:259600
Sanjad-Sakati Syndrome
Thin vermilion border, Long philtrum, Patchy osteosclerosis, Severe intrauterine growth retardati... ORPHA:2323
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Abnormal vertebral morphology, Microphthalmia, Cortical dysplasia, Cle... ORPHA:261272
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Aplasia/Hypoplasia of the frontal sinuses, Agenesis of corpus callosum, Pericallosal lipoma, Hypo... ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Flexion contracture, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar hy... OMIM:615249
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Camptodactyly of finger, Hypoplasia of the maxilla ORPHA:1529
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, High palate, Microphthalmia, Cleft palate ORPHA:1135
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Dental malocclusion, Carious teeth OMIM:615560
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Vertebral clefting, Median cleft palate, Septo-optic d... OMIM:301043
3Q29 Microdeletion Syndrome
High palate, Short philtrum, Everted lower lip vermilion, Microcephaly, Microphthalmia, Failure t... ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Cerebral atrophy, Hypoplasia of the corpus callosum, Kyphosis, Agenesis of corpus... ORPHA:464738
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the cervical spine, Intestinal malrotation, Hypodontia, Carious teeth, Supernumera... ORPHA:353281
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Micrognathia, Microphthalmia, Smooth philtrum OMIM:614526
Myhre Syndrome
Narrow mouth, Bifid uvula, Joint stiffness, Intrauterine growth retardation, Craniofacial hyperos... ORPHA:2588
W Syndrome
Broad uvula, Upper lip pit, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen... ORPHA:2804
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Kyphosis, Vertebral compression fracture, Multiple prenatal fra... OMIM:610915
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Microcephaly, Thin upper l... ORPHA:438216
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Decreased body weight, Long philtrum, Progressive microcephaly, Cerebellar hypoplasi... OMIM:300749
Fontaine Progeroid Syndrome
Long philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, Microdontia, High, narrow pala... OMIM:612289
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical tooth, Hypodont... OMIM:129400
Focal Dermal Hypoplasia
Hiatus hernia, Dental malocclusion, Anophthalmia, Cleft upper lip, Delayed eruption of teeth, Age... OMIM:305600
Non-Specific Syndromic Intellectual Disability
Narrow mouth, High palate, Abnormal corpus callosum morphology, Decreased body weight, Kyphosis, ... ORPHA:528084
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Lobulated tongue, Rhizomelia, Relative macrocephaly, Anal atresia, Cleft l... OMIM:616300
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of corpus callosum, Agenesis of pineal gland, Microphthalmia, Cleft palate OMIM:614402
Orofaciodigital Syndrome Type 4
Bifid uvula, Camptodactyly of finger, Severe short stature, Abnormality of the tongue, High, narr... ORPHA:2753
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Anal atresia, Microcephaly, Short stature, Bilateral microphthalmos, Hemivertebrae... OMIM:619318
Joubert Syndrome 14
Short philtrum, Open mouth, Tented upper lip vermilion, Growth delay, Dandy-Walker malformation, ... OMIM:614424
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasia of the pons, Optic nerve hypoplasi... ORPHA:370959
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Long philtrum, Joint laxity, Hyperlordosis, Micrognathia, Maxillary lateral incisor m... ORPHA:73223
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Short stat... OMIM:617914
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Kyphosis, Short neck, Agenesis of corpus callosum, Disproporti... OMIM:619194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Agenesis of corpus callosum, Cerebellar hypoplasia, Macroglossia, Microcephaly, ... OMIM:613150
Cousin Syndrome
Prominent protruding coccyx, Rhizomelia, Anterior rounding of vertebral bodies, Hydranencephaly, ... OMIM:260660
Acrocallosal Syndrome
High palate, Rectovaginal fistula, Short philtrum, Cleft upper lip, Long philtrum, Agenesis of co... OMIM:200990
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Micrognathia, Microphthalmia, Scoliosis, Hypoplasia of the corpu... ORPHA:494344
Holoprosencephaly 2
Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum, Cerebellar h... OMIM:157170
Craniotelencephalic Dysplasia
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Mic... OMIM:218670
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Growth delay OMIM:614082
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar hypoplasia, Severe short stature, Optic nerve hypoplasia, Microcephaly, Lissencephaly,... ORPHA:468631
Acrofacial Dysostosis, Cincinnati Type
Decreased body weight, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Short stature, Retr... OMIM:616462
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Macrocephaly, Osteopetrosis, Micrognathia OMIM:617306
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bu... ORPHA:2250
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, High palate, Flexion contracture, Agenesis of corpus callosum, Open mouth, Joint ... OMIM:309520
Galloway-Mowat Syndrome 1
Hiatus hernia, High palate, Cerebral atrophy, Intrauterine growth retardation, Small for gestatio... OMIM:251300
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600906
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Micrognathia, Microcephaly, Microphthalmia, Short stature, Cleft palate ORPHA:2505
Frontofacionasal Dysplasia
Bifid uvula, Cleft upper lip, Microphthalmia, Malar flattening, Hypoplasia of the frontal bone, O... OMIM:229400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Short neck, Arthrogryposis-like hand anomaly, Open mouth, Widely spaced teeth, Macro... ORPHA:369891
Mosaic Trisomy 1
Short upper lip, Thoracic scoliosis, Knee joint hypermobility, Agenesis of corpus callosum, Elbow... ORPHA:1692
Biemond Syndrome Type 2
Microphthalmia, Short stature, Obesity, Delayed puberty ORPHA:141333
Nanophthalmos
Microphthalmia ORPHA:35612
Hypomandibular Faciocranial Dysostosis
Aglossia, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Pu... OMIM:241310
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Short neck, Hypoplasia of the maxilla, Malar flattening, Dental crowding, Mandi... OMIM:101120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Micrognathia, Joint contracture of the 4th finger, Lens colo... OMIM:618914
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Distal Xq28 Microduplication Syndrome
High palate, Open mouth, Thick lower lip vermilion, Hypoplasia of the maxilla, Microcephaly, Shor... ORPHA:293939
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Joint laxity, Bilateral microphthalmos OMIM:608763
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Small for gestational age, M... OMIM:268400
Cerebrofacioarticular Syndrome
Narrow mouth, Dysplastic corpus callosum, Osteopenia, Agenesis of corpus callosum, Anal stenosis,... ORPHA:314679
Kapur-Toriello Syndrome
Cleft upper lip, Short neck, Intrauterine growth retardation, Intestinal malrotation, Microphthal... OMIM:244300
Monosomy 9Q22.3
Narrow mouth, Abnormality of the vertebral column, Odontogenic keratocysts of the jaw, Large for ... ORPHA:77301
2Q31.1 Microdeletion Syndrome
Kyphosis, Short neck, Long philtrum, Everted lower lip vermilion, Deep philtrum, Micrognathia, Mi... ORPHA:251014
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Long philtrum, Agenesis of corpus callosum, Intrauterine growth reta... OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Dandy-Walker ... OMIM:613153
Williams Syndrome
Long philtrum, Open bite, Failure to thrive in infancy, Everted lower lip vermilion, Microdontia,... ORPHA:904
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Impaired mastication, Macrodontia of permanent maxillary central incisor, Retrogn... ORPHA:466722
Mosaic Trisomy 9
Biparietal narrowing, High palate, Short neck, Intrauterine growth retardation, Limitation of joi... ORPHA:99776
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Neonatal short-limb short stature, Delayed eruption of teeth, Intraut... ORPHA:289
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... OMIM:166200
Hallermann-Streiff Syndrome
Narrow mouth, Tracheomalacia, Recurrent fractures, Proportionate short stature, Cerebellar hypopl... ORPHA:2108
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Intervertebral disc degeneration, Knee osteoarthritis, Joint laxity, Os... ORPHA:284984
Cowden Syndrome 5
Narrow mouth, High palate, Kyphosis, Colonic diverticula, Micrognathia, Hamartomatous polyposis, ... OMIM:615108
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Oligodontia, Joint laxity, Growth delay, Micrognathia,... ORPHA:37553
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation, Anal atresia ORPHA:195
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Micrognathia, High palate, Intrauterine growth retardation, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Micrognathia, High palate, Intrauterine growth retardation, ... ORPHA:353277
Axenfeld-Rieger Syndrome
Anal stenosis, Hypodontia, Microdontia, Everted lower lip vermilion, Growth delay, Hypoplasia of ... ORPHA:782
Marshall Syndrome
Cerebral calcification, High palate, Hypoplastic frontal sinuses, Long philtrum, Thick lower lip ... ORPHA:560
Myhre Syndrome
Microcephaly, Vertebral fusion, Mandibular prognathia, Thin upper lip vermilion, Macrocephaly, Bi... OMIM:139210
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Aicardi Syndrome
Hiatus hernia, Block vertebrae, Cleft upper lip, Cavum septum pellucidum, Dilated third ventricle... OMIM:304050
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Noonan Syndrome 1
High palate, Short neck, Failure to thrive in infancy, High, narrow palate, Micrognathia, Short s... OMIM:163950
Stromme Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Intestinal malrotation, Cerebellar vermis hyp... OMIM:243605
Fanconi Anemia, Complementation Group I
Colpocephaly, Short neck, Agenesis of corpus callosum, Decreased body weight, Intrauterine growth... OMIM:609053
8Q21.11 Microdeletion Syndrome
Narrow mouth, High palate, Short philtrum, Short neck, Camptodactyly of finger, Aplasia/Hypoplasi... ORPHA:284160
Microphthalmia With Limb Anomalies
Synostosis of carpal bones, High palate, Cleft upper lip, Abnormal form of the vertebral bodies, ... ORPHA:1106
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Decreased skull ossification, Platyspondyly, Microph... OMIM:300863
Pelvis-Shoulder Dysplasia
Abnormal form of the vertebral bodies, Thick anterior alveolar ridges, Prominent protruding coccy... ORPHA:2839
Meckel Syndrome, Type 4
Intrauterine growth retardation, Anencephaly, Microcephaly, Dandy-Walker malformation, Agenesis o... OMIM:611134
Fryns Syndrome
High palate, Ectopic anus, Short neck, Long philtrum, Agenesis of corpus callosum, Non-midline cl... ORPHA:2059
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Hypoplasia of the maxilla, Microcephaly, Microphthalmia, Bil... ORPHA:2399
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Diastema OMIM:619142
Basal Cell Nevus Syndrome
Odontogenic keratocysts of the jaw, Irregular ossification of hand bones, Cleft upper lip, Verteb... OMIM:109400
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Cowden Syndrome 6
Narrow mouth, High palate, Kyphosis, Colonic diverticula, Micrognathia, Hamartomatous polyposis, ... OMIM:615109
Aicardi Syndrome
Hiatus hernia, Short philtrum, Block vertebrae, Cleft upper lip, Prominence of the premaxilla, Mi... ORPHA:50
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Craniosynostosis 2
Craniosynostosis, Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synost... OMIM:604757
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Microcephaly, Microphthalmia, Broad philtrum, Thin uppe... ORPHA:1942
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Small for gestational age, Microcephaly, Microphthalmia, Short stature, Mala... OMIM:601675
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormality of the cervical spine, Hypopla... OMIM:123500
Pseudohermaphroditism, Female, With Skeletal Anomalies