Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger protein of the cerebellum 3
Synonyms:
Ka

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Zic3 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.

The table below shows human diseases associated to Zic3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... OMIM:314390

The table below shows human diseases predicted to be associated to Zic3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ataxia, Sensory, 1, Autosomal Dominant
Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Impaired distal ... OMIM:608984
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle... OMIM:601216
Mcdonough Syndrome
Mandibular prognathia, Dental malocclusion, Open bite, Low-set, posteriorly rotated ears, Microgn... ORPHA:2471
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Plagiocephaly, Atres... ORPHA:2673
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Narrow face, Dental crowdi... ORPHA:776
Primary Condylar Hyperplasia
Abnormality of the temporomandibular joint, Macrodontia, Facial asymmetry, Abnormal mandible cond... ORPHA:477781
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... OMIM:614669
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Hypoplasia of the maxilla, Mandibular prognathia, Narrow chest, Narrow face, Lo... OMIM:300676
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, High palate, Long face, Pectus carinatum, Flat face, Microcornea, Downtu... ORPHA:1327
Spinocerebellar Ataxia 6
Cerebellar atrophy, Vertigo, Dysmetria, Ataxia, Truncal ataxia, Abnormal vestibulo-ocular reflex,... OMIM:183086
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Hemifacial atrophy, Tongue atrophy, Kyphosis, Sho... OMIM:141300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short philtrum, Thi... OMIM:156510
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Chronic otitis media,... ORPHA:61
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Maxillonasal Dysplasia
Flat face, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis, Open bite, Patchy di... ORPHA:1248
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Short stature, Anteverted ears, Macrotia OMIM:615541
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
X-Linked Intellectual Disability, Sutherland-Haan Type
Narrow face, Hypoplasia of the maxilla, Brachycephaly, Short stature, Mandibular prognathia, Long... ORPHA:93950
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... ORPHA:2972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Short stature, Scoliosis, Mandibular prognathi... ORPHA:1858
Stickler Syndrome Type 1
Platyspondyly, Cataract, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis m... ORPHA:90653
X-Linked Intellectual Disability, Porteous Type
Narrow face, Hypoplasia of the maxilla, Cupped ear, Short stature, Short philtrum, Mandibular pro... ORPHA:93945
20P12.3 Microdeletion Syndrome
Pectus carinatum, Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Atria... ORPHA:261295
Three M Syndrome 2
Thin ribs, Pectus carinatum, Severe short stature, Dental malocclusion, Delayed eruption of teeth... OMIM:612921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Dental malocclusion, Widely spaced teeth, Malar flattening, Attached earlobe, Short sta... OMIM:616108
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, W... ORPHA:2863
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me... ORPHA:401942
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft... OMIM:602483
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of tee... ORPHA:915
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of... ORPHA:79113
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Rhizomelia, Elbow dislocation, Knee dislocation, Fr... OMIM:108721
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Tra... OMIM:231060
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Dental malocclusion, Diastema, Micrognathia, Malar flattening, Juvenile cataract, A... ORPHA:436245
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Intrauterine g... ORPHA:1908
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Abnormal vertebral morphology,... ORPHA:280195
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conductive hearing impairme... OMIM:616367
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Posterior wedging of vertebral bodies, Carious teeth, Delayed eruption... ORPHA:50814
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Vestibular areflexi... ORPHA:504476
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauteri... ORPHA:2570
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Flat face, Hypoplasia of ... ORPHA:1798
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hypoplasia of the ... OMIM:611134
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Protruding ear, Widely-spac... OMIM:618737
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Hearing impairment, Trigonocephaly, Micrognathia, Wide mout... OMIM:610883
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C... OMIM:619142
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormally prominent l... OMIM:109120
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Mulibrey Nanism
Iris coloboma, Microglossia, Dental malocclusion, Dental crowding, Frontal bossing, Intrauterine ... OMIM:253250
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Abnormal aorti... ORPHA:1926
Intellectual Developmental Disorder, X-Linked 58
Narrow face, Short philtrum, Dental malocclusion, Long face OMIM:300210
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Crouzon Syndrome
Iris coloboma, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult... ORPHA:207
Harrod Syndrome
Narrow face, Cataract, Dental malocclusion, Abnormal shoulder morphology, Intrauterine growth ret... ORPHA:2115
Craniofacial-Deafness-Hand Syndrome
Narrow face, Hypoplasia of the maxilla, Flat face, Camptodactyly of finger, Abnormality of the wr... ORPHA:1529
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... OMIM:246560
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Larsen-Like Syndrome
Low-set ears, Flat face, Joint dislocation, Dental malocclusion, Conductive hearing impairment, R... OMIM:608545
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Men... ORPHA:1759
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax OMIM:601809
Intellectual Disability, Buenos-Aires Type
Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal calvaria morphology, Den... ORPHA:3079
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Pycnodysostosis
Carious teeth, Delayed cranial suture closure, Micrognathia, Mild conductive hearing impairment, ... ORPHA:763
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ... ORPHA:93262
Pentalogy Of Cantrell
Polysplenia, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal pericardium morphology, A... ORPHA:1335
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Plagiocephaly, Dental malocclusion, Hearing impairment, Scaphocephaly, Open ... OMIM:619149
Distal Deletion 13Q
Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1590
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Flat face, Dental malocclusion, Widely-spaced maxillary central incis... OMIM:619719
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Vertigo, Gait ataxia, Kinetic... ORPHA:101110
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, Short stature, High palate ORPHA:85279
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Long face, High palate, Mandibular prognathia, Mild short stature OMIM:618292
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head ORPHA:2975
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im... ORPHA:192
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Round face, Tarsal synostosis, Widel... ORPHA:363417
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Cata... OMIM:257850
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Synostosis of carp... ORPHA:1106
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Cataract, Microspherophakia,... OMIM:277600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Dental crowding, Conductive hearing impairment, Long philtrum, 11 pairs of ribs, Sp... OMIM:617877
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... OMIM:314390
Otodental Syndrome
Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Long face, Abnormality of canine, Cat... ORPHA:2791
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis... OMIM:615314
Nance-Horan Syndrome
Narrow face, Microcornea, Posterior Y-sutural cataract, Diastema, Supernumerary maxillary incisor... OMIM:302350
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Bilateral elbow dis... OMIM:166300
Malan Syndrome
Narrow face, Mandibular prognathia, Retrognathia, Gingival overgrowth, Narrow mouth, Astigmatism,... OMIM:614753
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Abnormal lung lobation, Intestinal malrotati... ORPHA:1666
Fetal Akinesia Deformation Sequence 4
Low-set ears, Retrognathia, 11 pairs of ribs, Micrognathia, Short neck, High palate, Posteriorly ... OMIM:618393
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Neonatal death, Ventricular septal defect, Short neck, Hepatomegaly, Holopr... OMIM:269860
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor... OMIM:608149
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... ORPHA:79345
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... OMIM:123500
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Abnormal heart morphology, Abnormal cardiac septum morphology, Congenital malformatio... ORPHA:294975
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Low-set ears, Intrauterine growth retardation, Micrognathia, Kypho... ORPHA:96183
Mosaic Trisomy 20
Craniofacial asymmetry, Narrow chest, Cleft lip, Retrognathia, Hearing impairment, Spinal canal s... ORPHA:1724
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Gait ataxia, Intention tremor, Ataxia, Cerebellar cortical atrophy, Abnormal vest... ORPHA:247234
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Pectus carinatum, Cataract, Cardiomyo... OMIM:212720
Pde4D Haploinsufficiency Syndrome
Flat face, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Frontal bossing, Abnorma... ORPHA:439822
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Sensorineural hearing impairment, Torus palatinus,... OMIM:144750
Noonan Syndrome 4
Low-set ears, Dental malocclusion, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Wide... OMIM:610733
Vacterl/Vater Association
Occipital encephalocele, Intrauterine growth retardation, Abnormality of the gallbladder, Vertebr... ORPHA:887
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Left superior vena cava draining directly to the left atrium, Unbalanced atrioventricular canal d... OMIM:619657
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo... ORPHA:244
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... ORPHA:2476
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Holoprosencephaly 9
Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, S... OMIM:610829
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Downturned c... ORPHA:93267
Seckel Syndrome 1
Low-set ears, Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contr... OMIM:210600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Widely-spaced maxillary central incisors, Thick lower lip vermilion, Micrognathia, Vent... OMIM:608227
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Senso... ORPHA:2790
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Lowry-Maclean Syndrome
High, narrow palate, Low-set ears, Hypoplasia of the maxilla, Growth delay, Retrognathia, Downtur... ORPHA:2409
Meier-Gorlin Syndrome 4
Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Lateral clavicle hook, Thick lower lip ... OMIM:613804
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Mitral valve p... OMIM:182212
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Micrognathia, Genu valgum, Open mouth, Mitral valve prolapse,... ORPHA:193
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Saethre-Chotzen Syndrome
Low-set ears, Hearing impairment, Prominent crus of helix, Delayed cranial suture closure, Open b... ORPHA:794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hyperopic astigmatism, Crowded maxillary incisors ORPHA:397973
Oligodontia
Short face, Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped... ORPHA:99798
Limb Body Wall Complex
Progressive congenital scoliosis, Encephalocele, Ventricular septal defect, Atrial septal defect,... ORPHA:2369
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Pectus carinatum, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Tho... ORPHA:481152
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty... ORPHA:178303
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Narrow mouth, Heterotaxy, Su... ORPHA:3426
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Intrauterine growth retardation, Cerebral calcification, Patent foramen ovale... ORPHA:89844
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Brachycephaly, Facial asymmetry, High palate, Scoliosis, Long face, Ma... OMIM:218000
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Marshall Syndrome
Thick upper lip vermilion, Micrognathia, Genu valgum, Sensorineural hearing impairment, High pala... ORPHA:560
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Microcornea, Hearing impairment, Umbilical hernia, Abnormal heart morp... OMIM:601499
Holoprosencephaly 7
Flat face, Hypoplasia of the premaxilla, Iris coloboma, Unilateral cleft lip, Macrotia, Frontal b... OMIM:610828
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption ... OMIM:612350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Ventricular septal defect, Truncus arteriosus, Microcephaly, Cleft palate OMIM:601355
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Situs inversus totalis, Recurrent sinusitis, Chroni... OMIM:615482
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Iris coloboma, Cataract, Camptodactyly of fi... ORPHA:391474
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Ventricular septal defect, High palate, Lens luxation, ... OMIM:608328
Marden-Walker Syndrome
High, narrow palate, Low-set ears, Joint contracture of the hand, Long philtrum, Abnormal sternum... OMIM:248700
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Acrootoocular Syndrome
High, narrow palate, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Atresia of the... ORPHA:2980
Frontometaphyseal Dysplasia 1
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral valve prola... OMIM:305620
7Q31 Microdeletion Syndrome
Low-set ears, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Childhood onset sensorineu... ORPHA:251061
Ayme-Gripp Syndrome
Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Sensorineural hea... OMIM:601088
Craniolenticulosutural Dysplasia
Bifid uvula, Narrow chest, Posterior wedging of vertebral bodies, Carious teeth, Delayed eruption... OMIM:607812
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Round face, High p... OMIM:618363
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Hearing impairment, Aplasia/Hypoplasia of the iris, Microdontia, Hypod... ORPHA:782
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Type II lissencephaly, Agenesis of corpus callos... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short... OMIM:613686
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Recurrent otiti... OMIM:602849
Skraban-Deardorff Syndrome
Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula... OMIM:617616
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Occipital encephalocele, Sacral dimple, Di... OMIM:614175
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Chiari malformation, Neonatal death, Ventricular septal def... OMIM:265380
Shprintzen-Goldberg Syndrome
Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Mitral valve prolapse, High, narrow p... ORPHA:2462
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, ... ORPHA:2166
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri... ORPHA:1354
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Narrow chest, Aplastic clavicle, Hypoplasia of the brainstem, Hamar... OMIM:616546
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
High, narrow palate, Low-set ears, Cataract, Malar flattening, Kyphoscoliosis, Atlantoaxial abnor... ORPHA:3433
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Scapular winging, Pectus ... OMIM:617258
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Plagiocephaly, Cervical ribs, Micrognathia, Orofacial cleft, Deep philtrum, Abnorma... ORPHA:77300
Diprosopus
Anencephaly, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, ... OMIM:203550
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Abnormality of the ankle, Microglossia, Conductive ... ORPHA:1307
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hearing impairment, Oligodonti... OMIM:616331
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Absent brainstem auditory responses, Vestibular areflexia, Head titubation ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hypoplasia of the maxilla, Retrognathia, Hearing impairment, Micrognathia, Malar flatte... OMIM:620157
Ck Syndrome
Narrow face, Dental crowding, Retrognathia, Micrognathia, Malar flattening, Posteriorly rotated e... OMIM:300831
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Atrial septal defect, Agyria, ... OMIM:253800
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Protruding ear, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Promine... ORPHA:85317
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognat... OMIM:170390
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Sensorineural hea... ORPHA:2662
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio... ORPHA:228396
Andersen-Tawil Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dilated cardiomyopathy, De... ORPHA:37553
Cowden Syndrome 5
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... OMIM:615108
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... ORPHA:3145
Cleft Velum
Short face, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficienc... ORPHA:99772
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Intrauterine growth re... OMIM:613805
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia, Long face OMIM:608931
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Radioulnar synostosis, Abnormality of the philtru... ORPHA:3268
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Cervical spine hypermobility, Hypoplasia of the odontoid process, Clef... OMIM:305400
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... OMIM:265900
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna... ORPHA:261197
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Abnormal tricuspid valve morphology, Malar flattening, Narrow mouth, ... ORPHA:2412
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Cerebellar Ataxia, Cayman Type
Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Truncal ataxia, Bradyki... OMIM:601238
Hallermann-Streiff Syndrome
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Hi... OMIM:234100
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated... OMIM:620642
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Neonatal death, Cerebellar hypoplasia, Short neck, ... OMIM:236500
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Megalocornea, Micrognathia, Mitral valve prolapse, ... OMIM:249420
Trichorhinophalangeal Syndrome, Type I
Pectus carinatum, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, G... OMIM:190350
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Kyphomelic Dysplasia
Flat face, Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, M... ORPHA:1801
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Narrow chest, Dental malocclusion, Downturned corners of mouth, Atresi... OMIM:601390
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Atresia of the e... ORPHA:245
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hearing impairment, Sp... OMIM:101800
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Cataract, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of extern... ORPHA:2399
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Disproportionate short-limb short sta... OMIM:259440
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of the dentition, Conductive hea... ORPHA:2095
Constricting Bands, Congenital
Abnormal rib cage morphology, Cleft upper lip, Encephalocele, Ectopia cordis, Scoliosis, Cleft pa... OMIM:217100
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Agenesi... OMIM:252100
Mucopolysaccharidosis, Type Iva
Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Short neck, D... OMIM:253000
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Retrognathia, Long philtrum, Abnormal heart morphology, Tetralogy of Fallot,... ORPHA:96092
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Mitral valve prolapse, Protrusio acetabuli, Ankle flexion contract... OMIM:259600
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Narrow chest, Anteriorly placed anus, Encephalocele, Agenesis of corpus cal... OMIM:619148
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Basal gangl... OMIM:620371
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Microcephaly, Tr... ORPHA:1913
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Narrow mouth, Evert... OMIM:600920
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Narrow face, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, ... OMIM:309520
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Trismus, Short sta... OMIM:616583
Cowden Syndrome 6
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... OMIM:615109
Acrodysostosis
Flat face, Hypoplasia of the maxilla, Joint dislocation, Delayed eruption of teeth, Abnormal form... ORPHA:950
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conjunctival hyperemia, Dolichocephaly OMIM:167730
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Dental crowding, Downturned corners of mouth, Long philtrum, Micrognathia, Astigmat... OMIM:615761
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Frontal bossing, Microg... ORPHA:1703
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Meckel Syndrome, Type 1
Occipital encephalocele, Chiari malformation, Large placenta, Agenesis of corpus callosum, Short ... OMIM:249000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Abnormality of the dentition, Cataract, Dental malocclusion, Thick lower lip vermil... ORPHA:85321
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Mandibular prognathia, Plagiocephaly, Long philtr... ORPHA:1101
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Pectus carinatum, Exaggerated median tongue furrow, Dental crowding, Hyperplasia o... ORPHA:313892
Mucopolysaccharidosis Type 4
Carious teeth, Hearing impairment, Genu valgum, Short neck, Pectus carinatum, Joint dislocation, ... ORPHA:582
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Flat face, Joint dislocation, Large face, Open bi... ORPHA:2097
Zimmermann-Laband Syndrome
Bifid uvula, Cataract, Growth delay, Large fleshy ears, Micrognathia, Wide mouth, Sensorineural h... ORPHA:3473
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Ventricula... OMIM:614815
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Cleidocranial Dysplasia 2
Aplastic clavicle, Hypoplasia of the maxilla, Plagiocephaly, Hearing impairment, Genu valgum, Del... OMIM:620099
Cri-Du-Chat Syndrome
Low-set ears, Bifid uvula, Narrow face, Microretrognathia, Growth delay, Downturned corners of mo... OMIM:123450
Czeizel-Losonci Syndrome
Hypoplastic helices, Myelomeningocele, Low-set, posteriorly rotated ears, Thin calvarium, Microgn... ORPHA:2437
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Absent antihelix, Open mou... ORPHA:293939
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Patent foramen ovale, Ventricular se... OMIM:614261
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Frontal bossing, Abnormal palate morphology, Turricephaly, Mandibular ... ORPHA:1540
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Cerebellar... OMIM:605013
Distal Duplication 5Q
Low-set ears, Flat face, Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Ventricular se... ORPHA:96097
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Flat face, Plagiocephaly, Dental malocclusion, Widely spaced teeth, Frontal bossing... OMIM:619293
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Pectus carinatum, Delayed eruption of teeth, Thick lower lip vermilio... OMIM:619797
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Short neck, Bea... OMIM:213980
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Abnormal clavicle morphology, Malar prominence, Abnormal dental morphology, Microgn... ORPHA:2522
Kabuki Syndrome 2
Low-set ears, Natal tooth, Dental malocclusion, Hearing impairment, Macrotia, Atrioventricular ca... OMIM:300867
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Cataract, Low-set, posteriorly rotated ears, Furrowed tongue, Micrognathia, Ma... ORPHA:1387
Microphthalmia, Syndromic 9
Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sp... OMIM:601186
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, ... OMIM:616202
Treacher-Collins Syndrome
Short face, Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Iris coloboma, Cat... ORPHA:861
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve... OMIM:608978
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Brachyc... OMIM:105830
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Severe short stature, Per... OMIM:231070
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, I... ORPHA:2255
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614120
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Abnor... ORPHA:210110
Frank-Ter Haar Syndrome
Genu recurvatum, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Wide mouth... ORPHA:137834
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Coarse facial features, Everted lowe... ORPHA:2429
Achard Syndrome
Brachycephaly, Micrognathia, Broad skull OMIM:100700
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Flat face, Conductive hearing impairment, Delayed eruptio... ORPHA:87
Usher Syndrome
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus, Aplasia/Hypoplasia of t... ORPHA:886
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Hypoplasia of the maxilla, Micrognathia, Hearing impairment OMIM:301108
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Narrow chest, Dental malocclusion, Downturned corners of mouth, Hearin... OMIM:615546
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Myhre Syndrome
Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft,... ORPHA:2588
Meier-Gorlin Syndrome 1
Low-set ears, Thin ribs, Joint contracture of the hand, Elbow dislocation, Hearing impairment, At... OMIM:224690
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow m... OMIM:265000
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Mi... OMIM:179613
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Intrauterine growth retardat... ORPHA:2257
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Narrow mouth, Brachycephaly, Short stature, High palate, Gro... ORPHA:2528
Mosaic Trisomy 9
Low-set ears, Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Ventricular septal def... ORPHA:99776
Heart And Brain Malformation Syndrome
High, narrow palate, Cerebellar vermis hypoplasia, Interrupted aortic arch, Gastroesophageal refl... OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thin upper lip vermilion, Cub... OMIM:300534
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Tetr... ORPHA:276422
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Square face, Thick lower lip vermilion, Thick upper lip vermilion, Postnat... OMIM:309545
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Cerebral c... ORPHA:1393
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Round face, Everted lower... OMIM:137550
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Pectus carinatum, Postnatal growth retardation, Intrauterine growth retardation, Mi... OMIM:615419
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Postnatal growth retardation, Micrognathia, Narrow mouth, Ventricular septal defect... ORPHA:251028
Oliver Syndrome
Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Intrauterine growth reta... ORPHA:2920
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Delayed puberty, High palate, Scoliosis, Kyphosis ORPHA:2598
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Abnormal vertebral morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:166024
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Short thorax, Patellar ... OMIM:613803
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Open bite, Low-set, posteriorly rotated ears, Micrognathia, ... ORPHA:2617
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Friedreich Ataxia
Hearing impairment, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Impa... ORPHA:95
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, Ventricular septal defect... OMIM:300373
Robinow Syndrome
Low-set ears, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permane... ORPHA:97360
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Coffin-Siris Syndrome 6
High, narrow palate, Low-set ears, Plagiocephaly, Conductive hearing impairment, Retrognathia, Fr... OMIM:617808
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo... ORPHA:98762
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Protruding ear, Scoliosis, Mandibular prognathia, Kyphosis OMIM:300861
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Short neck, ... OMIM:612474
Premature Aging Syndrome, Penttinen Type
Thin ribs, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Delayed cranial su... OMIM:601812
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Long philtrum, Intestinal malrotation, Tetralogy... OMIM:618316
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Frontal... ORPHA:40
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Bell-... ORPHA:2839
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Retrognathia, Umbilical hernia, Abnormal heart morph... ORPHA:352490
Short Syndrome
Low-set ears, Cataract, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mou... OMIM:269880
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Flat face, Hypoplasia of the maxilla, Do... ORPHA:1299
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Ve... ORPHA:2789
Cleidocranial Dysplasia
Short face, Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Gen... ORPHA:1452
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Narrow mouth, Wide... OMIM:615834
Marfanoid Habitus With Situs Inversus
Genu recurvatum, Pectus carinatum, Situs inversus totalis, Mitral valve prolapse, Long face, Lens... OMIM:609008
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Sclerosteosis 1
Tooth malposition, Broad clavicles, Dental malocclusion, Hearing impairment, Large face, Facial p... OMIM:269500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Cataract, Macrotia, Short stature, Posteriorly rotated ears, Kyphosis, Delayed ... OMIM:618392
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Hearing impairment, Down-slopin... OMIM:227330
Hall-Riggs Syndrome
Platyspondyly, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the prim... OMIM:234250
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Intrauterine growth ret... ORPHA:251071
Congenital Herpes Simplex Virus Infection
Microcephaly, Intrauterine growth retardation, Hydranencephaly ORPHA:293
Cowden Syndrome 1
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... OMIM:158350
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... OMIM:613807
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Marden-Walker Syndrome
Low-set ears, Micrognathia, Narrow mouth, Ventricular septal defect, Radioulnar synostosis, Abnor... ORPHA:2461
Slc35A2-Cdg
Abnormal midbrain morphology, Gastroesophageal reflux, Cerebellar atrophy, Lateral ventricle dila... ORPHA:356961
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Abnormality of the elbow, Increased vertebral... ORPHA:2616
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hypoplasia of the brainstem, Polymicrogyria, Intrauterine growth retardation, Ag... OMIM:225790
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Microretrognathia, Carious teeth, Dental malocclusion, Cupped ear, Down-sloping sho... OMIM:615560
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Abnormali... ORPHA:48431
Ear-Patella-Short Stature Syndrome
Low-set ears, Elbow dislocation, Hearing impairment, Atresia of the external auditory canal, Micr... ORPHA:2554
Renpenning Syndrome
High, narrow palate, Severe short stature, Narrow face, Iris coloboma, Growth delay, Cataract, Ab... ORPHA:3242
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Type II lissencephaly, Postnatal growth retardation, Abnormal basal... ORPHA:300570
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Conductive hearing impairment, Frontal boss... ORPHA:3082
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow d... ORPHA:2916
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Micrognathia, Genu valgum, Narrow mouth, Hip contracture, Short n... ORPHA:800
Greenberg Dysplasia
Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Large pl... OMIM:215140
Nestor-Guillermo Progeria Syndrome
Thin ribs, Microretrognathia, Dental malocclusion, Dental crowding, Growth delay, Micrognathia, M... OMIM:614008
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moyamoya phenom... OMIM:300845
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Dental malocclusion, Ectopia pupillae, Recurrent otitis media, Postnat... OMIM:608940
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of the earlobes, Flat fa... ORPHA:1968
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l... OMIM:259420
3P25.3 Microdeletion Syndrome
High, narrow palate, Abnormal thalamus morphology, Sacral dimple, Coronary artery atherosclerosis... ORPHA:435638
Weismann-Netter Syndrome
Severe short stature, Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperosto... OMIM:112350
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Limited elbow movement, Increased overbite, Protr... ORPHA:319171
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Conductive hearing impairment, Atresia of the... OMIM:608257
Stickler Syndrome
Hearing impairment, Open bite, Micrognathia, Genu valgum, Mitral valve prolapse, Sensorineural he... ORPHA:828
Turnpenny-Fry Syndrome
Low-set ears, Narrow mouth, Mitral valve prolapse, Atrial septal defect, High palate, Thoracic ky... OMIM:618371
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Elsahy-Waters Syndrome
Low-set ears, Megalocornea, High palate, Cataract, Hypoplasia of the maxilla, Impacted tooth, Thi... OMIM:211380
Hajdu-Cheney Syndrome
Low-set ears, Micrognathia, Genu valgum, Narrow mouth, Ventricular septal defect, Absent frontal ... OMIM:102500
Diastrophic Dysplasia
Neonatal short-limb short stature, Joint dislocation, Abnormal form of the vertebral bodies, Hypo... ORPHA:628
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Low-set, posteriorl... ORPHA:1110
Alexander Disease Type I
Scoliosis, Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral whit... ORPHA:363717
Trisomy 18
Growth delay, Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth... ORPHA:3380
Cach Syndrome
Optic atrophy, Cerebellar atrophy, Growth delay, Lateral ventricle dilatation, Cerebral atrophy, ... ORPHA:135
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Infancy onset short-trunk short... ORPHA:444072
Schisis Association
Encephalocele, Microcephaly, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anencephaly, ... ORPHA:63862
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Encephalocele, Complete atrioventricular canal defect, Vent... OMIM:264480
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Squared-off platyspon... OMIM:271530
Basilar Impression, Primary
Craniofacial asymmetry, Abnormal cervical myelogram, Kyphoscoliosis, Short neck, Platybasia OMIM:109500
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Ankyloglossia, Intrauterine growth retardation, Agenesis of corpus callo... ORPHA:250989
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, In... OMIM:618280
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Dandy-Walker malformation... OMIM:603194
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Retrognathia, Velopharyngeal in... ORPHA:363444
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Dental malocclusion, Ectopia pupillae, Hemifacial hypoplasia, Persistenc... OMIM:618727
Traboulsi Syndrome
Bifid uvula, Cataract, Dental malocclusion, Retrognathia, Ectopia lentis, Phakodonesis, Spontaneo... OMIM:601552
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Short neck, Cleft lip,... OMIM:616894
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Coarse facial features, Abnormal rib mo... ORPHA:1513
Trisomy 9P
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,... ORPHA:236
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypop... ORPHA:397715
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Retrognathia, Micrognathia, Short neck, High palate, Scoliosis, Kyphosis OMIM:611890
Poland Syndrome
Short ribs, Rib fusion, Sprengel anomaly, Hemivertebrae, Dextrocardia OMIM:173800
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Cataract, Band keratopathy, Dental malocclusion, Progressive sensorineural hearing i... ORPHA:2959
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Nablus Mask-Like Facial Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of the h... OMIM:608156
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Short neck, Atrial septal ... OMIM:115150
Autosomal Recessive Stickler Syndrome
Platyspondyly, Flat face, Cataract, Micrognathia, Genu valgum, Malar flattening, Astigmatism, Sen... ORPHA:250984
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental ename... ORPHA:2180
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus carinatum, Frontal bossing, Oligodontia, Anodontia, Everted lower lip vermilion, Short sta... ORPHA:276630
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Enlarged vertebral pedicles, Narrow mout... OMIM:139210
Alg3-Cdg
Hypoplasia of the pons, Cardiomyopathy, Decreased liver function, Hypoplasia of the corpus callos... ORPHA:79321
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Trigonocephaly, Micrognathia, Thin upper lip vermilion, Abnormal facial shap... ORPHA:329178
Takenouchi-Kosaki Syndrome
Low-set ears, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teet... OMIM:616737
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Ectopia lentis, Umbilical hernia, Recurrent sinusitis, Mitral valve prolapse, ... OMIM:130000
Distal 7Q11.23 Microdeletion Syndrome
Chiari malformation, Microcephaly, Atrial septal defect, Porencephalic cyst, Patent ductus arteri... ORPHA:254351
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Platyspondyly, Microretrognathia, Coronal... OMIM:616294
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu... ORPHA:96121
Severe Oculo-Renal-Cerebellar Syndrome
Narrow face, Mandibular prognathia, Cataract, Hypoplasia of the zygomatic bone, Large earlobe, Ma... ORPHA:2715
Three M Syndrome 1
Postnatal growth retardation, Short neck, Mandibular prognathia, Hip dislocation, Joint dislocati... OMIM:273750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Hypoplasia of the corpus callosum, Ventricular septal defect, Thoracic scoliosis,... OMIM:603387
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Low-set ears, Hearing impairment, Delayed cranial suture closure, Pr... OMIM:101400
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Optic atrophy, Cerebral atrophy, Aspiration pneumonia, Intrauterine growth ... OMIM:619057
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar... OMIM:313850
Catel-Manzke Syndrome
Oral synechia, Ventricular septal defect, Atrial septal defect, Short stature, Glossoptosis, Clef... ORPHA:1388
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Brachyturricephaly, Humeror... OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Radi... OMIM:194190
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Flat face, Rhizomelia, Micrognathia, Malar flattening, Kyphoscoliosis, Sens... OMIM:215100
Osteogenesis Imperfecta, Type Xx
Low-set ears, Narrow palate, Crumpled ear, Narrow chest, Asymmetry of the thorax, Retrognathia, D... OMIM:618644
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Hamamy Syndrome
Low-set ears, Dental malocclusion, Long philtrum, Neck pterygia, Micrognathia, Complete atriovent... OMIM:611174
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Caudal appendage, Abnormal heart morpho... ORPHA:314679
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Aortic valve stenosis, Delayed cranial suture closure, Micrognathia, Flat occiput, ... ORPHA:2780
Mulchandani-Bhoj-Conlin Syndrome
Severe short stature, Retrognathia, Intrauterine growth retardation, Triangular face, Hyperlordos... OMIM:617352
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Double o... OMIM:614886
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Downturned corners of mouth, Cleft upper lip, He... OMIM:265050
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Umbilical hernia, Camptoda... ORPHA:1488
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Narrow face, Kyphosis, Hypoplasia of the zygom... ORPHA:958
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Low-set, posteriorly rotated ears, Micrognathia, Microdontia, Short n... ORPHA:3191
Melnick-Needles Syndrome
Craniofacial hyperostosis, Anisospondyly, Tooth malposition, Narrow chest, Delayed eruption of te... ORPHA:2484
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Communicating hydrocephalus, Agenesis of co... ORPHA:1780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic v... ORPHA:1120
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Shoulder flexion contracture, Long philtrum, Elbow flexion co... OMIM:277720
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Catel-Manzke Syndrome
Low-set ears, Postnatal growth retardation, Genu valgum, Micrognathia, Narrow mouth, Ventricular ... OMIM:616145
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Goldberg-Shprintzen Syndrome
Low-set ears, Hypoplasia of the maxilla, Megalocornea, Oligodontia, Ventricular septal defect, Sh... OMIM:609460
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Gen... OMIM:253010
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Micrognathia, Abnormal antihelix morphology, Malar flattening, T... ORPHA:2145
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus carinatum, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great... OMIM:619910
Recon Progeroid Syndrome
Dental crowding, Growth delay, Prominence of the premaxilla, Smooth philtrum, Attached earlobe, R... OMIM:620370
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Atrial septa... OMIM:620663
Spastic Paraplegia 18B, Autosomal Recessive
High palate, Scoliosis, Kyphosis, Ankle clonus OMIM:611225
Pfeiffer Syndrome
Flat face, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Turricephaly... ORPHA:710
Phaver Syndrome
Abnormal form of the vertebral bodies, Myelomeningocele, Intrauterine growth retardation, Butterf... ORPHA:2876
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Hypoplasia of ... OMIM:619072
Achondrogenesis Type 1B
Severe short stature, Flat face, Narrow chest, Disproportionate short stature, Long philtrum, Umb... ORPHA:93298
Charge Syndrome
Postnatal growth retardation, Abnormal cranial nerve morphology, Aqueductal stenosis, Holoprosenc... ORPHA:138
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, High palate, Chronic otitis media, Flat occiput, Coronal craniosynos... OMIM:614188
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Metatropic Dysplasia
Severe short stature, Cataract, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of th... ORPHA:2635
Femoral-Facial Syndrome
Low-set ears, Long philtrum, Micrognathia, Vertebral segmentation defect, Thin upper lip vermilio... ORPHA:1988
Craniometadiaphyseal Dysplasia
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad ribs, ... OMIM:269300
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc... ORPHA:289
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Frontal bossing, Abnormal denta... ORPHA:2050
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Craniofacioskeletal Syndrome
Interrupted aortic arch, Intrauterine growth retardation, Absent gallbladder, Barrel-shaped chest... OMIM:300712
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic... ORPHA:536545
Osteoglophonic Dysplasia
Platyspondyly, Low-set ears, Hypoplasia of the maxilla, Hypoplastic scapulae, Rhizomelia, Delayed... OMIM:166250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Postnatal growth retardation, Mi... ORPHA:96334
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Focal white matter lesions, Dysplastic corpus callosum, Stroke, Hyp... ORPHA:557003
Zttk Syndrome
Low-set ears, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Hypopla... OMIM:617140
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Neu-Laxova Syndrome 1
Lissencephaly, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical ... OMIM:256520
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa... OMIM:613680
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Cystic liver diseas... OMIM:612284
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Abnormality of the internal ca... ORPHA:467166
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Micrognathia, Short nec... ORPHA:1486
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... OMIM:101200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low-set ears, Peters anomaly, Long philtrum, Frontal bossing, Atrioventricular canal defect, Thin... OMIM:618929
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Meckel Syndrome