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, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Abnormalit... OMIM:314390

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Macrotia, Dextrocardia, Abnormal facia... OMIM:221950
Mcdonough Syndrome
Dental malocclusion, Protruding ear, Pectus excavatum, Kyphosis, Open bite, Short stature, Microg... ORPHA:2471
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... OMIM:614669
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Plagiocephaly, Pectus excavatum, Short stature, External ear malfor... ORPHA:2673
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Microdontia,... OMIM:601216
Lujan-Fryns Syndrome
High palate, Protruding ear, Pectus excavatum, Atrial septal defect, Narrow face, Micrognathia, C... ORPHA:776
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Facial asymmetry, Anterior open-bite malocclusion,... ORPHA:477781
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Microcornea, Pectus carinatum, Mandibular progna... ORPHA:1327
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Kyphosis, High palate, Pectus excavatum, Narrow face, Long face, Scoliosis, Pectus ... OMIM:300676
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short stature, Thin vermilion border, Short philtrum, Platyspondyly, Hyp... OMIM:156510
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scoliosis, Microdontia, Patchy disto... ORPHA:1248
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Microtia, Short mandibular rami, Delayed eruption of teeth, Tongue... OMIM:141300
Alpha-Mannosidosis
Dental malocclusion, Corneal opacity, Kyphosis, Abnormal helix morphology, Gingival overgrowth, N... ORPHA:61
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Hemifacial Hyperplasia
Dental malocclusion, Facial asymmetry, Hypoplasia of the maxilla OMIM:133900
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Del... ORPHA:2972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Kyphosis, Short stature, Abnormality of the dentition, Scoliosis, Mandibular... ORPHA:1858
X-Linked Intellectual Disability, Sutherland-Haan Type
Narrow face, Short stature, Long face, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia... ORPHA:93950
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Short stature, Macrotia, Anteverted ears OMIM:615541
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... ORPHA:90653
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Short stature, Micrognathia, Camptodactyly of finger, Delayed erupti... ORPHA:2863
20P12.3 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, Malar flattening, Microtia, Short stature, Long philtrum, Pec... ORPHA:261295
Three M Syndrome 2
High palate, Dental malocclusion, Protruding ear, Lumbar hyperlordosis, Severe short stature, Mal... OMIM:612921
Atelosteogenesis, Type Iii
Knee dislocation, Malar flattening, Cleft palate, Horizontal sacrum, Micrognathia, Short neck, Sc... OMIM:108721
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
X-Linked Intellectual Disability, Porteous Type
Narrow face, Short stature, Long face, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Mac... ORPHA:93945
Aarskog-Scott Syndrome
Cleft upper lip, Short stature, Pectus excavatum, Genu recurvatum, Cleft palate, Everted lower li... ORPHA:915
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Attached earlobe, Short stature, Micrognathia, Short neck,... ORPHA:436245
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Pectus excavatum, Joint dislocation, Cle... OMIM:616145
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Protruding ear, Pectus excavatum, Atrial septal defect, Blue ir... OMIM:249630
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening, Short stature OMIM:616108
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Cleft palate, Glos... OMIM:602483
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Ventricular septal defect, Transpos... OMIM:231060
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... ORPHA:79113
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Microcephaly, Rhombencephalosynapsis, Hypoplasia of the pons, Coarcta... ORPHA:280195
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosi... OMIM:248950
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Flat face, Malar flattening OMIM:122880
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia,... OMIM:613684
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Cleft palate, Microcephaly, Aplasia/Hypoplasia of t... ORPHA:1926
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Atrioventricular canal defect, Long face, Short philtrum, Diastema, Long... OMIM:619142
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Abnormal facial shape, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Craniolenticulosutural Dysplasia
Narrow chest, High palate, Wide mouth, Premature loss of teeth, Short stature, Thin vermilion bor... ORPHA:50814
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Protruding ear, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Midf... OMIM:618737
Dysostosis, Stanescu Type
Abnormal palate morphology, Kyphosis, Pectus excavatum, Tooth agenesis, Macroglossia, Short statu... ORPHA:1798
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture, Short stature OMIM:259610
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Enlarged thorax, Cerebral cortical atrophy, Holoprosencephaly, Microcephaly, Short neck, Abnormal... ORPHA:2570
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Bicuspid aortic valve, Conductive hearing impairment, Protruding ear, Cleft palate,... OMIM:616367
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Midface retrusion, Short stature ORPHA:2776
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Malar flattening, Short stature, Abnormally prominent line of S... OMIM:109120
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Abnormal rib cage morphology, Short stature, Long thorax, Genu ... OMIM:608154
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Short stature, Microcephaly, Anencephaly, Aplasia... ORPHA:1908
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Short face, Hypoplasia of the maxill... ORPHA:99772
Crouzon Syndrome
Conductive hearing impairment, Brachycephaly, Narrow palate, Midface retrusion, Frontal bossing, ... ORPHA:207
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Narrow face, Camptodactyly of finger, Ulnar devia... ORPHA:1529
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Conductive hearing impairment, Pectus excavatum, Prominent sternum, Spondylolisthesi... OMIM:617877
Intellectual Developmental Disorder, X-Linked 58
Long face, Dental malocclusion, Short philtrum, Narrow face OMIM:300210
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Hypodontia, Short stature, Dolichocephaly, Astigmatism,... OMIM:253250
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Tetralogy of F... OMIM:136760
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia... OMIM:246560
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... ORPHA:763
Harrod Syndrome
High palate, Dental malocclusion, Protruding ear, Kyphosis, Narrow mouth, Narrow face, Long face,... ORPHA:2115
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Thin calvarium, Delayed cr... OMIM:601812
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Dental malocclusion, Torus palatinus, Clavicular sclerosis, Scl... OMIM:144750
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Abnormal form of the... ORPHA:93262
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Abnormal cardiac septum morphology, Open bite, Short stature, A... ORPHA:3079
Holoprosencephaly 7
Hypoplasia of the premaxilla, Broad face, Parietal bossing, Bilateral cleft lip and palate, Front... OMIM:610828
Subaortic Stenosis--Short Stature Syndrome
Growth delay, Narrow mouth, Pectus excavatum, Malar flattening, Membranous subvalvular aortic ste... OMIM:271960
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Supernumerary tooth, Anodonti... OMIM:264475
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Dental malocclusion, Large earlobe, Narrow mouth, Macrodontia ... OMIM:257850
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Distal Monosomy 13Q
Abnormal cardiac septum morphology, Anal atresia, Holoprosencephaly, Short stature, Microcephaly,... ORPHA:1590
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Spondylospinal Thoracic Dysostosis
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Short thorax OMIM:601809
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, Cleft palate, Microcephaly,... OMIM:611134
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Wide mouth, Atrial septal defect, Short stature, Micrognathia, ... OMIM:610883
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Short stature, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Si... OMIM:613686
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Long face, Mandibular prognathia, Mild short stature OMIM:618292
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia ORPHA:2975
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Larsen-Like Syndrome
Dental malocclusion, Conductive hearing impairment, Kyphoscoliosis, Joint dislocation, Malar flat... OMIM:608545
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Short stature, Camptodactyly of finger, Hypoplasia of the maxilla ORPHA:85279
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Short neck, Microcornea, Ventricular septal defect, Sagit... OMIM:201000
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Hypoplasia of the maxilla, Elbow dislocation, Large earlo... ORPHA:1106
Holoprosencephaly 9
Cleft upper lip, Hypoplasia of the premaxilla, Dental malocclusion, Malar flattening, Cleft palat... OMIM:610829
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... ORPHA:363417
Coffin-Lowry Syndrome
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Delayed eruption of ... ORPHA:192
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Round face, Thoracic hypoplasia, Advanced ... OMIM:618363
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Dextrocardia, Meningocele, Abnormal tricuspid valve mo... ORPHA:1759
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Microspherophakia, Lumbar hyperlordosis, Shallow anterior chamber, Aortic ... OMIM:277600
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Retrognathia, Micrognathia, Short neck, Low-set ears, Posteriorly rotated ... OMIM:618393
Otodental Syndrome
Abnormality of canine, Abnormal molar morphology, Microcornea, Delayed eruption of teeth, Carious... ORPHA:2791
Craniosynostosis 3
Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Micrognathia, Bilateral elbow dislocations, Wrist swelling, Hypoplasia of the ma... OMIM:166300
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Congenital hip dislocation, Scoliosis, Limited elbow e... OMIM:619719
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Long face, Facial asymmetry, Scoliosis, Hypoplasia of the maxilla, Macrotia, Brachyc... OMIM:218000
Malan Syndrome
Gingival overgrowth, Pectus excavatum, Narrow mouth, Narrow face, Retrognathia, Long face, Everte... OMIM:614753
Nance-Horan Syndrome
Mulberry molar, Narrow face, Long face, Diastema, Microcornea, Posterior Y-sutural cataract, Scre... OMIM:302350
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Plagiocephaly, Atrial septal defect, Pulmonic stenosi... OMIM:619149
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Intrauterine growth retardation, Broad face, Postnatal growth reta... ORPHA:439822
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Kyphoscoliosis, Elbow ankylosis, Long face, Micrognathia, Facial... ORPHA:96183
Crouzon Syndrome
Keratitis, Conductive hearing impairment, Coronal craniosynostosis, Atresia of the external audit... OMIM:123500
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Thin ribs, Microtia, Retrognathia, Micrognathia, Pulmonic s... OMIM:608149
Mosaic Trisomy 20
Narrow chest, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis, Limited ... ORPHA:1724
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Cataract, Hypoplasia of the maxilla, Proportionate ... ORPHA:79345
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... ORPHA:1335
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Retrognathia, Long face, Scoliosis, Low-set ears, Posteriorly rot... OMIM:617190
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... OMIM:603463
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Craniofaciofrontodigital Syndrome
Dental malocclusion, Pectus excavatum, Hypoplastic vertebral bodies, Short stature, Abnormality o... OMIM:114620
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Pectus excavatum, Atrial septal defect, Blue irides, Abnormal st... OMIM:610733
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Delayed ... OMIM:273050
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Spina... ORPHA:2476
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Martsolf Syndrome 1
Prominent antitragus, High palate, Pectus excavatum, Thoracic scoliosis, Lumbar hyperlordosis, To... OMIM:212720
Lowry-Maclean Syndrome
Widely patent coronal suture, Intrauterine growth retardation, Corneal opacity, Trigonocephaly, H... ORPHA:2409
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Cohen Syndrome
Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, Lumbar hyperlordosis, Hig... OMIM:216550
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Microtia, Short stature, Micrognathia, Birth length less than 3rd ... OMIM:613804
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... ORPHA:93267
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lu... ORPHA:1666
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Seckel Syndrome 1
High palate, Dental malocclusion, Abnormal pinna morphology, Dislocated radial head, Postnatal gr... OMIM:210600
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Heterotaxy, Pu... ORPHA:3426
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Craniosynostosis, Abnormality of the de... ORPHA:178303
Limb Body Wall Complex
Lens subluxation, Cleft palate, Anencephaly, Ventricular septal defect, Encephalocele, Thoracic h... ORPHA:2369
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Protruding ear, Narrow palate, Short stature, Micrognathia, Osteoarthritis, ... OMIM:190350
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Aganglionic megacolon, Gastroesophageal... OMIM:156810
Marden-Walker Syndrome
High palate, Kyphosis, Narrow mouth, Abnormal sternum morphology, Joint contracture of the hand, ... OMIM:248700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Platyspondyly, Scoliosis, Severe platyspondyly, Rhizomelia, Ovoid vertebral ... OMIM:608940
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Short philtrum, Scoliosis, Ventricular septal defect, Catarac... OMIM:608227
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... ORPHA:89844
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Abnormal anterior chamber morphology, Posterior embryoto... ORPHA:782
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... ORPHA:794
Ayme-Gripp Syndrome
Pectus excavatum, Craniofacial asymmetry, Abnormality of the dentition, Radioulnar synostosis, Ma... OMIM:601088
Cohen Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... ORPHA:193
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Craniolenticulosutural Dysplasia
Narrow chest, High palate, Wide mouth, Punctate cataract, Malar flattening, Cleft palate, Short s... OMIM:607812
Frontorhiny
Congenital conductive hearing impairment, Lumbar hyperlordosis, Basal encephalocele, Cleft palate... ORPHA:391474
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Microcephaly, Ventricular septal defect, Hydranencephaly, Truncus arteriosus OMIM:601355
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal cardiac septum morphology, Anal atresia, Intrauterine gro... ORPHA:887
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Facial asymmetry, Brach... OMIM:613849
Weill-Marchesani Syndrome 2
High palate, Ventricular septal defect, Broad skull, Iridodonesis, Cataract, Hypoplasia of the ma... OMIM:608328
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dental malocclusion, Dislocated radial head, Kyphoscoliosis, High ... OMIM:612350
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect... OMIM:269860
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Anterior chamber synechiae, Short philtrum, Opacificatio... OMIM:601499
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Primary Ciliary Dyskinesia
Double outlet right ventricle, Abnormal heart morphology, Hydrocephalus, Anomalous pulmonary veno... ORPHA:244
Marshall Syndrome
High palate, Cleft palate, Abnormality of the dentition, Genu valgum, Hypoplasia of the maxilla, ... ORPHA:560
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Genu valgum, Partial fusi... OMIM:305620
Acrootoocular Syndrome
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Pectus exca... ORPHA:2980
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Microcephaly, Scoliosis, Tetralogy of Fallot, Ventricular s... ORPHA:1727
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... ORPHA:1307
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Narrow mouth, Cleft palate, Mic... ORPHA:2166
Pyle Disease
Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow extension, Carious teeth, Abno... OMIM:265900
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Umbilical hernia, Midfa... OMIM:616331
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Brachyturricephaly, P... OMIM:182212
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Narrow ches... OMIM:615546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Polymicrogyria, Optic atrophy, Agyria, Encephalocele, Pachygyria, Myocardial fibro... OMIM:253800
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, High, narrow palate, Malar flattening, Short stature, Dolichocephaly, Atlantoaxia... ORPHA:3433
Meckel Syndrome, Type 10
Cleft palate, Dilated fourth ventricle, Cerebellar hypoplasia, Anencephaly, Malformation of the h... OMIM:614175
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Microcephaly, Scoliosis, Tetralogy of Fallot, Ventricular sept... ORPHA:1913
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Polymicrogyria, Abnormal brainstem morphology, Optic atrophy, Abnormal cerebellum ... ORPHA:370959
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of ... ORPHA:1354
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Brachyturrice... OMIM:300280
Shprintzen-Goldberg Syndrome
Pectus excavatum, Craniosynostosis, Pectus carinatum, Genu valgum, Hypoplasia of the maxilla, Umb... ORPHA:2462
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Abnormal pinna morphology, Micrognathia, Congenital hip dislocation, Scoliosis, Midface... OMIM:618291
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Short stature, Ventricular sep... OMIM:614261
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla,... ORPHA:2412
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, Narrow ches... OMIM:601390
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Low-set ears, Protruding ear, Overfolded helix, Thin vermilion border, Long philtrum... ORPHA:481152
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Severe short stature, Generalized hypoplasia of dental enamel, Dolichocephaly,... OMIM:203550
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Kyphosis, Abnormal pinna morphology, Pectus excavatum, Plagioc... ORPHA:77300
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Atrial septal defect... ORPHA:261197
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dental malocclusion, Dislocated radial head, Hypoplastic vertebral bodies,... OMIM:101800
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglo... OMIM:241310
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... OMIM:170390
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormal pinna morphology, Microretrognathia, Biparietal narrowing, Long philtrum, Hypoplasia of ... ORPHA:228396
Meier-Gorlin Syndrome 5
Microtia, Short stature, Micrognathia, Prominent metopic ridge, Long philtrum, Birth length less ... OMIM:613805
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Micrognathia, Anterior rib cupping, Abnormal form of the vertebral b... ORPHA:1801
Cowden Syndrome 5
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... OMIM:615108
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Short stature,... ORPHA:3145
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Protruding ear, Cleft palate, Prominent metopic ridge, Short philtrum, Scoliosis, Mandi... ORPHA:85317
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Stillbi... OMIM:236500
Short Syndrome
Sensorineural hearing impairment, Dental malocclusion, Intrauterine growth retardation, Hypodonti... OMIM:269880
Acrodysostosis
Spinal canal stenosis, Open bite, Short stature, Delayed eruption of teeth, Abnormal form of the ... ORPHA:950
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Short stature, Abnormality of the dentition, Scoliosis, Pectus carinatum, Radioulnar synostosis, ... ORPHA:3268
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular se... ORPHA:261243
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, Long face, High palate OMIM:608931
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Coarse facial features, Wide... OMIM:617616
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum,... ORPHA:1528
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Abnormalit... OMIM:314390
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... OMIM:220210
Jackson-Weiss Syndrome
Frontal bossing, Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia, Tu... ORPHA:1540
Ck Syndrome
High palate, Kyphosis, Malar flattening, Narrow face, Retrognathia, Micrognathia, Long face, Scol... OMIM:300831
Andersen-Tawil Syndrome
High palate, Dental crowding, Persistence of primary teeth, Short stature, Micrognathia, Facial a... ORPHA:37553
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Glenoid fossa hy... OMIM:600920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Optic nerve dysplasia, Typ... OMIM:615287
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Pectus excavatum, Round face, High, narrow palate, Everted lower lip vermilion, Retro... ORPHA:96092
Keipert Syndrome
Sensorineural hearing impairment, Short stature, Hypoplasia of the maxilla, Tented upper lip verm... ORPHA:2662
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Abnormality of cartilage of external ear, Dolichocephaly, Severe postnatal growt... ORPHA:2399
Aarskog-Scott Syndrome
Large earlobe, Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Short stature, Short ... OMIM:305400
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Short stature, Coronal craniosynostosis, Abnormality of the dentit... ORPHA:2095
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Mohr Syndrome
High palate, Conductive hearing impairment, Accessory oral frenulum, Agenesis of central incisor,... OMIM:252100
Constricting Bands, Congenital
Cleft upper lip, Abnormal rib cage morphology, Cleft palate, Scoliosis, Ectopia cordis, Encephalo... OMIM:217100
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Muenke Syndrome
Sensorineural hearing impairment, Dental malocclusion, Plagiocephaly, High palate, Malar flatteni... OMIM:602849
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... OMIM:608156
Frank-Ter Haar Syndrome
High palate, Wide mouth, Pectus excavatum, Megalocornea, Ventricular septal defect, Double outlet... OMIM:249420
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Abnormally folded helix, Atrial septal defect, Pectus excavatum, Narrow face, Microg... OMIM:309520
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Cowden Syndrome 6
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... OMIM:615109
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Pectus excavatum, Spinal rigidity, Micrognathia, Long face, Sco... OMIM:617258
Nager Syndrome
Wide mouth, Cleft palate, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia o... ORPHA:245
Osteogenesis Imperfecta, Type Ix
Kyphosis, Disproportionate short-limb short stature, Pectus excavatum, Dentinogenesis imperfecta,... OMIM:259440
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Thin calvarium, Cataract, Decreased number of sternal ossification... OMIM:234100
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... ORPHA:1387
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Trismus, Platyspondyly, Kyphoscoliosis OMIM:616583
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Micrognathia, Scoliosis, Long philtrum, Astigmatism, Hyperlordosis, Downturned corners ... OMIM:615761
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Sensorineural hearing impairment, Dental malocclusion, Wide mouth, Malar flattening, Everted lowe... ORPHA:85321
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinatum, Carious te... ORPHA:582
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Hydrocephalus, Atrial septal defect, Cleft palate, Short ribs, Short neck, Anenceph... OMIM:616546
Distal Trisomy 5Q
Narrow mouth, Craniosynostosis, Thin vermilion border, Micrognathia, Short stature, Long philtrum... ORPHA:96097
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Short stature, Micrognathia, Short neck... ORPHA:2522
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Cataract,... ORPHA:861
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Grant Syndrome
Sprengel anomaly, Large face, Narrow chest, Joint dislocation, Open bite, Abnormality of the glen... ORPHA:2097
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, C1-C2 subluxation, Hypoplasia of the maxilla, Delayed closure of the a... OMIM:259600
Nasopalpebral Lipoma-Coloboma Syndrome
Dolichocephaly, Cupped ear, Hypoplasia of the maxilla, Low-set ears, Conjunctival hyperemia OMIM:167730
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Plagiocephaly, Pectus excavatum, High, narrow palate, Dolichocephaly, C... ORPHA:1101
Mosaic Trisomy 14
Narrow chest, High palate, Wide mouth, Cleft palate, Microtia, Micrognathia, Camptodactyly of fin... ORPHA:1703
Mucopolysaccharidosis, Type Iva
Wide mouth, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, P... OMIM:253000
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Large fleshy ears, High palate, Wide mouth, Supernumerary tooth... ORPHA:3473
Czeizel-Losonci Syndrome
Prominent antitragus, High palate, Myelomeningocele, Micrognathia, Thin calvarium, Low-set, poste... ORPHA:2437
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cri-Du-Chat Syndrome
High palate, Abnormal pinna morphology, Microretrognathia, Narrow face, Long face, Facial asymmet... OMIM:123450
Angelman Syndrome
Wide mouth, Blue irides, Macroglossia, Scoliosis, Widely spaced teeth, Flat occiput, Hypoplasia o... OMIM:105830
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesi... OMIM:218670
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ... OMIM:157980
Myhre Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Intrauterine growth retardation, Severe short s... ORPHA:2588
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Vertebral segmentation defect, N... ORPHA:87
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... OMIM:224690
Microhydranencephaly
Short stature, Microcephaly, Cerebellar hypoplasia, Growth delay, Pachygyria, Hydranencephaly, Ag... OMIM:605013
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Plagiocephaly, Wide mouth, Short philtrum, Scoliosis, Microdontia, Enamel hy... OMIM:619293
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Short st... ORPHA:2563
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Short statu... OMIM:616202
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Short stature, Opacification of the corneal stroma, Cataract, Hypoplasia of the maxill... OMIM:211370
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Hypopla... OMIM:213980
Chromosome 13Q33-Q34 Deletion Syndrome
Narrow chest, High palate, Anal atresia, Short stature, Pulmonic stenosis, Left ventricular hyper... OMIM:619148
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypoplasia, Ventricular septal defect, U... OMIM:600001
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Congenital hip dislocation, Scoliosis, Delayed eruptio... OMIM:619797
Frank-Ter Haar Syndrome
Kyphosis, Protruding ear, Beaking of vertebral bodies, Genu recurvatum, Wide mouth, Gingival over... ORPHA:137834
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atriove... ORPHA:251071
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Pectus excavatum, Horizontal sacrum, Microcornea, Pectus carinatum, Twelfth rib hypo... OMIM:211910
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scoliosis, Coarse facial featu... ORPHA:2429
Achard Syndrome
Micrognathia, Brachycephaly, Broad skull OMIM:100700
Sclerosteosis 1
Dental malocclusion, Large face, Tooth malposition, Malar flattening, Broad clavicles, Facial pal... OMIM:269500
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Broad face, Abnormality of the dentition, Ventricular septal defect, Midface re... OMIM:179613
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Periodontitis, Severe... OMIM:231070
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Short neck, Anencephaly, Malform... OMIM:249000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypop... ORPHA:2255
Mucopolysaccharidosis, Type Ivb
Wide mouth, Prominent sternum, Platyspondyly, Carious teeth, Disproportionate short-trunk short s... OMIM:253010
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Back pain, Osteosclerosis of the ba... ORPHA:210110
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Ventricular septal defect, Intrauterine gro... ORPHA:99776
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Narrow palate, Hyperplasia of the maxilla, Scoliosis, ... ORPHA:313892
Kabuki Syndrome 2
High palate, Dental malocclusion, Protruding ear, Atrial septal defect, Hypodontia, Cleft palate,... OMIM:300867
Distal Xq28 Microduplication Syndrome
High palate, Microtia, Short stature, Absent antihelix, Short lingual frenulum, Hypoplasia of the... ORPHA:293939
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Microtia, Retrognathia, Micrognathia, Short stature, Anotia, Hypoplasia of the maxi... OMIM:616462
Melanocytic Nevus Syndrome, Congenital
Round face, Everted lower lip vermilion, Prominence of the premaxilla, Long philtrum, Deep philtr... OMIM:137550
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Short statur... OMIM:192430
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Protruding ear, Pectus excavatum, Short stature, Micrognathia, Diastema, Furrowed to... OMIM:300534
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Short neck, Umbilical hernia... OMIM:265000
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, Cerebral atrophy, High, narrow palate, Microcephaly, Hypoplasia of the c... OMIM:616920
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Robinow Syndrome
Tricuspid atresia, Triangular mouth, Broad alveolar ridges, Hemivertebrae, Ventricular septal def... ORPHA:97360
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Postnatal growth retardation, Square face, Mandibular prog... OMIM:309545
Meier-Gorlin Syndrome 3
Narrow chest, Intrauterine growth retardation, Narrow mouth, Microretrognathia, Microtia, Short r... OMIM:613803
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Short stature, Retrognathia, Microcornea, Cataract, Growth delay, Brac... ORPHA:2528
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Perineal fistula, Anal atresia, Abnormal ... ORPHA:2538
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, High palate, Intrauterine growth retardation, Butterfly vertebrae,... OMIM:611209
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Severe short stature, Open bite, Micrognathia, Scoliosis... ORPHA:2617
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Short stature, Micrognathia, Camptodactyly of finger, Scoliosis, Microcornea, Cataract,... ORPHA:48431
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Microcephaly, Coarctation of aorta, Patent ductus arteriosus, Transpositio... OMIM:612474
Oliver Syndrome
High palate, Dental malocclusion, Absent earlobe, Camptodactyly of finger, Short philtrum, Scolio... ORPHA:2920
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Long upper lip,... ORPHA:93359
Slc35A2-Cdg
Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Scoliosis, Cortical dyspl... ORPHA:356961
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Cleft palate, Abnormality of the dentition, Short philtrum, Short neck, Microdontia,... ORPHA:251028
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth retardat... OMIM:225790
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Abnormal ve... ORPHA:166024
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Delayed puberty ORPHA:2598
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Narrow mouth, Atrial septal defect, Joint contracture of the hand, Short stature, Retro... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Wide mouth, Narrow mouth, Short stature, Micrognathia, Short philtrum, Scoliosis, Deep ... OMIM:615834
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Osteopathia Striata With Cranial Sclerosis
High palate, Pectus excavatum, Cleft palate, Overfolded helix, Ventricular septal defect, Broad r... OMIM:300373
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Conductive hearing impairment, Hypodontia, Cleft palate, Oval face, Ventricular ... OMIM:106260
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... OMIM:618371
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Intrauterine growth retardation, Double... OMIM:270100
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Johnson Neuroectodermal Syndrome
Cleft palate, Short stature, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:147770
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Scoliosis, Abnormal form... ORPHA:40
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ca... ORPHA:1452
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Abnormality of the dentition, Tetralogy of Fallo... ORPHA:276422
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Micrognathia, Scoliosis, Pectus carinatum, Thin upper lip vermilion, Triangular face,... OMIM:615419
Diastrophic Dysplasia
Large earlobe, Kyphosis, Intrauterine growth retardation, Abnormal clavicle morphology, Joint dis... ORPHA:628
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Hemivertebrae, Tracheoesophageal fistula, Short ne... ORPHA:1780
3M Syndrome
Congenital hip dislocation, Short neck, Delayed eruption of teeth, Midface retrusion, Intrauterin... ORPHA:2616
Hajdu-Cheney Syndrome
High palate, Abnormal cardiac septum morphology, Short neck, Biconcave vertebral bodies, Genu val... OMIM:102500
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Short stature, Pulmonary artery hypoplasia, Anomalou... ORPHA:2326
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... OMIM:601186
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Stickler Syndrome
Cleft palate, Platyspondyly, Advanced eruption of teeth, Pectus carinatum, Genu valgum, Hypoplasi... ORPHA:828
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Branchioskeletogenital Syndrome
Pectus excavatum, Attached earlobe, Craniosynostosis, Abnormality of the dentition, Short philtru... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Mandibular prognathia, Protruding ear, Scoliosis OMIM:300861
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Plagiocephaly, Hypoplastic vertebral bodies, Hypodontia,... ORPHA:2916
Marden-Walker Syndrome
Pectus excavatum, Cleft palate, Pectus carinatum, Radioulnar synostosis, Ventricular septal defec... ORPHA:2461
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Microcephaly, Tetralogy of Fallot, Ventricular septal de... OMIM:617478
Mend Syndrome
High palate, Kyphosis, Aortic valve stenosis, Microretrognathia, Short stature, Cataract, Low-set... OMIM:300960
Cowden Syndrome 1
High palate, Kyphosis, Narrow mouth, Pectus excavatum, Micrognathia, Scoliosis, Furrowed tongue, ... OMIM:158350
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Microretrognathia, Thin ribs,... OMIM:616294
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmo... ORPHA:2257
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, U-Shaped upper lip vermilion, Hypoplasia of the primary ... OMIM:234250
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly, Intrauterine growth retardation ORPHA:293
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Ventricular septal defect, Umbilical hernia, High, nar... ORPHA:2789
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Dental malocclusion, Wide mouth, Pectus excavatum, Narrow palate, Abnormal rib cage ... OMIM:227330
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpus... ORPHA:300570
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Scoliosis, Ventricula... ORPHA:435638
Elsahy-Waters Syndrome
High palate, Pectus excavatum, Impacted tooth, Megalocornea, Delayed eruption of teeth, Hypoplasi... OMIM:211380
Renpenning Syndrome
Sensorineural hearing impairment, Sprengel anomaly, Narrow mouth, Pectus excavatum, Severe short ... ORPHA:3242
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Facial asymmetry, Low-set, posteriorly rotated ears, Genu varum, Hypoplasia of the ... ORPHA:1110
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Anotia, Hypoplasia of the maxilla, Microtia, third degree, Intrau... ORPHA:2554
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thick corpus callosum, Kyphosis, Hydrocephalus, Thoracic scoliosis, Atrial septal defect, Hypopla... OMIM:603387
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Narrow mouth, High, narrow palate, Malar flattening, Micrognathia,... ORPHA:1968
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Kyphosis, Short stature, Micrognath... ORPHA:3082
Distal 17P13.1 Microdeletion Syndrome
High palate, Protruding ear, Retrognathia, Limited elbow movement, Hypoplasia of the zygomatic bo... ORPHA:319171
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Cerebrocostomandibular Syndrome
Myelomeningocele, Posterior rib gap, Kyphosis, Cleft palate, Short stature, Cerebral calcificatio... ORPHA:1393
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... OMIM:613807
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Hearing impairment, Scoliosis OMIM:617087
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia OMIM:173800
Catel-Manzke Syndrome
Atrial septal defect, Cleft palate, Short stature, Glossoptosis, Ventricular septal defect, Oral ... ORPHA:1388
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Neonatal short-limb short stature, Dentinoge... OMIM:259420
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Pulmonary valve atresia, Sensorineural hearing impairment, Conductive h... ORPHA:96129
X-Linked Mandibulofacial Dysostosis
Sensorineural hearing impairment, Abnormal mitral valve morphology, Conductive hearing impairment... ORPHA:1131
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Basilar Impression, Primary
Kyphoscoliosis, Craniofacial asymmetry, Short neck, Abnormal cervical myelogram, Platybasia OMIM:109500
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Genu recurvatum, Pulmonic stenosis, Long face, Scoliosis, Pectus cari... OMIM:609008
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Short Rib-Polydactyly Syndrome
Narrow chest, Abnormal cerebellum morphology, Disproportionate short-limb short stature, Cleft pa... ORPHA:1505
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Delayed eru... OMIM:112350
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Midface retrusion, Sacral ... OMIM:616894
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cleft upper lip, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosen... OMIM:264480
Saethre-Chotzen Syndrome
Cleft palate, Prominent crus of helix, Radioulnar synostosis, Hypoplasia of the maxilla, Abnormal... OMIM:101400
Coffin-Siris Syndrome 6
Conductive hearing impairment, Plagiocephaly, Pectus excavatum, Atrial septal defect, Kyphoscolio... OMIM:617808
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Short stature, Pectus carinatum, Macrotia, Poster... OMIM:618392
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate, Tetralogy of Fallot ORPHA:217
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Malar flattening, Short stature, Midface retrusion, Amelogenesis imperfecta, Grow... OMIM:614727
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Retrognathia, Micrognathia, Short neck, Scoliosis, Low-set ears OMIM:611890
Whistling Face Syndrome, Recessive Form
High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philt... OMIM:277720
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Cupped ear, Mixed hearing impairment, Down-sloping should... OMIM:615560
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Malar flattening, Hemivertebrae, Scoliosis, Abnormal form of the v... ORPHA:2180
Trisomy 9P
Kyphosis, Protruding ear, Abnormal pupil morphology, Impacted tooth, Short neck, Scoliosis, Downt... ORPHA:236
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Atrial septal defect, Velopharyngeal insufficienc... ORPHA:363444
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Conductive hearing impairment, Joint contracture of the hand, Malar flatteni... OMIM:608257
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Sprengel anomaly, High palate, Kyphoscoliosis, Malar flattening, Enamel hypoplasia, Mandibular pr... OMIM:600991
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Short stature, Coarse facial features, Abnormal rib morphology, Fr... ORPHA:1513
Myhre Syndrome
Cleft palate, Short philtrum, Platyspondyly, Short neck, Birth length less than 3rd percentile, V... OMIM:139210
Three M Syndrome 1
Pectus excavatum, Short neck, Mandibular prognathia, Intrauterine growth retardation, Thick lower... OMIM:273750
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Right atrial enlargement, Growth delay, Microretrognathia, Thin ribs, Short ... OMIM:614008
Takenouchi-Kosaki Syndrome
Sensorineural hearing impairment, Dental malocclusion, Abnormal cardiac septum morphology, Abnorm... OMIM:616737
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment, Irregular vertebral endplates, Malar flattening, Cleft palate, ... ORPHA:250984
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Schwartz-Jampel Syndrome
High palate, Pectus excavatum, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Overfold... ORPHA:800
Alg3-Cdg
High palate, Decreased liver function, Abnormal uvula morphology, Macroglossia, Microcephaly, Coa... ORPHA:79321
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Wide mouth, Malar prominence, Narrow face, Short stature, Scoliosis, Hypoplasia of... ORPHA:2715
Pelvis-Shoulder Dysplasia
Hydrocephalus, Lumbar hyperlordosis, Cleft palate, Long clavicles, Aplasia/Hypoplasia of the clav... ORPHA:2839
3Mc Syndrome 2
Cleft upper lip, Postnatal growth retardation, Cleft palate, Craniosynostosis, Prominence of the ... OMIM:265050
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Microcephaly, Scol... ORPHA:250989
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Microcephaly, Patent ductus arteriosus, Chiari malformation, Porencephalic ... ORPHA:254351
Fryns Syndrome
Cleft palate, Hypoplasia of the optic tract, Short neck, Ventricular septal defect, Hypoplasia of... OMIM:229850
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Micrognathia, Scoliosis, Deep philtrum, Abnormal facial shape, ... ORPHA:329178
Cardiofaciocutaneous Syndrome 1
High palate, Pectus excavatum, Abnormality of the dentition, Short neck, Pectus carinatum, Open m... OMIM:115150
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Caudal Regression Syndrome
Anal atresia, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... ORPHA:3027
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Scoliosis, Pectus carinatum, Cerebral cavernous ... OMIM:619910
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Thoracic scoliosis, Band keratopathy, Fragile teeth, Selective tooth agenesi... ORPHA:2959
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Ectopia pupillae, Facial asy... OMIM:618727
7Q11.23 Microduplication Syndrome
High palate, Pectus excavatum, Craniosynostosis, Overfolded helix, Hemivertebrae, Short philtrum,... ORPHA:96121
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Rhizomelic Chondrodysplasia Punctata, Type 1
Sensorineural hearing impairment, Kyphoscoliosis, Severe short stature, Malar flattening, Cleft p... OMIM:215100
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Anodontia, Pectus excavatum, Everted lower lip vermilion, Short stature, Oligodontia, S... ORPHA:276630
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Short philtrum, Radioulnar synos... OMIM:194190
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Pectus excavatum, Spherophakia, Shallow anterior chamber, Malar... OMIM:601552
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... OMIM:130720
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Protruding ear, Micrognathia, Scoliosis, Macrotia, Patellar hypoplasia OMIM:251240
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Hemivertebrae, Tracheoesophageal fistula, Aplas... ORPHA:138
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Short stat... OMIM:129400
Ehlers-Danlos Syndrome, Classic Type, 1
Pectus excavatum, Joint dislocation, Irregularly spaced teeth, Short stature, Hyperextensibility ... OMIM:130000
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Cataract, Severe short stature, High, narrow palate, Ret... ORPHA:2780
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Prominence of the premaxilla, Short stature,... OMIM:614886
Pfeiffer Syndrome
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricepha... OMIM:101600
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, High palate, Abnormal clavicle morphology, Butterfly vertebrae, Aplas... ORPHA:958
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Malar flattening, Craniosynostosis, Microtia, Micrognathia, Cleft ... ORPHA:2145
Mulchandani-Bhoj-Conlin Syndrome
Intrauterine growth retardation, Severe short stature, Retrognathia, Dolichocephaly, Scoliosis, H... OMIM:617352
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Pectus excavatum, Congenital hip dislocation, Microcornea, Pectus carinatum, Umbilic... ORPHA:536545
Metatropic Dysplasia
Narrow chest, Kyphosis, Severe short stature, Cleft palate, Camptodactyly of finger, Scoliosis, L... ORPHA:2635
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Membranous subvalvular aortic stenosis, Short stature, Micrognathia, Short neck, Scolio... ORPHA:3191
Congenital Tracheomalacia
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... ORPHA:95430
Achondrogenesis Type 1B
Narrow chest, Severe short stature, Micrognathia, Short neck, Long philtrum, Abnormal rib morphol... ORPHA:93298
Osteogenesis Imperfecta, Type Xx
Narrow chest, High palate, Plagiocephaly, Kyphoscoliosis, Narrow palate, Asymmetry of the thorax,... OMIM:618644
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Holoprosencephaly OMIM:617967
Craniometadiaphyseal Dysplasia
High palate, Low-set ears, Malar flattening, Short stature, Scoliosis, Wormian bones, Genu varum,... OMIM:269300
Goldberg-Shprintzen Syndrome
Corneal ulceration, Everted lower lip vermilion, Short philtrum, Megalocornea, Short neck, Hypopl... OMIM:609460
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dysgenesis of the cerebellar vermis, Rhizomelic arm shortening, Abnormal optic disc morphology, T... ORPHA:397715
Melnick-Needles Syndrome
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Tooth malposition, Short statu... ORPHA:2484
Myopathy, Congenital, Bailey-Bloch
High palate, Conductive hearing impairment, Kyphoscoliosis, Cleft palate, Short stature, Microgna... OMIM:255995
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Short stature, Tet... OMIM:612946
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Severe short stature, Cerebral atrophy, Aspiration pneumon... OMIM:619057
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Microcephaly, Anencephaly, Encephalocele, ... ORPHA:63862
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the dentition, Delayed eruption of teeth, Microdont... ORPHA:289
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... ORPHA:1120
Trisomy 18
Anal atresia, Intrauterine growth retardation, Narrow palate, Atrial septal defect, Cleft palate,... ORPHA:3380
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Hamamy Syndrome
Sensorineural hearing impairment, Dental malocclusion, High palate, Pectus excavatum, Atrial sept... OMIM:611174
Craniosynostosis And Dental Anomalies
High palate, Delayed eruption of teeth, Sagittal craniosynostosis, Hypoplasia of the maxilla, Sca... OMIM:614188
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Hypoplasia of the pons, Scoliosis, Fusion ... OMIM:617542
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Narrow mouth, Microtia, Pulmonic stenosis, Micrognathia, Short sta... ORPHA:314679
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Pfeiffer Syndrome
High palate, Short stature, Facial asymmetry, Short philtrum, Synostosis of carpal bones, Short n... ORPHA:710
Cole-Carpenter Syndrome
Kyphosis, Intrauterine growth retardation, Short stature, Micrognathia, Scoliosis, Delayed erupti... ORPHA:2050
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Cleft palate, Short neck, Abnormality of the to... ORPHA:567
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300431
Cooper-Jabs Syndrome
Conductive hearing impairment, Malar flattening, Short stature, Camptodactyly of finger, Scoliosi... ORPHA:1488
Zttk Syndrome
High palate, Craniosynostosis, Hemivertebrae, Abnormality of the dentition, Short philtrum, Ventr... OMIM:617140
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Platyspondyly, Cataract, Midface retrusion, Spondylolisthesis, Mi... OMIM:108300
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypop... OMIM:619072
Craniofacioskeletal Syndrome
Atrial septal defect, Cleft palate, Short stature, Barrel-shaped chest, Microcephaly, Shield ches... OMIM:300712
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... OMIM:618280
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Scoliosis, Ventricular septa... ORPHA:1937
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Stroke, Focal white matter lesions, Short stature, Scoliosis, Hyperlo... ORPHA:557003
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Cleft palate, Microtia, Short statur... ORPHA:1988
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Hemivert... ORPHA:96334
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Tongue fasciculations, Atrial septal defect, Recurrent respiratory inf... OMIM:253300
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Lower lip pit, Abnormality of lower lip OMIM:183400
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Cleft palate, Short umbilical cord, Short neck, Microcephaly, Ce... OMIM:256520
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Cleft palate, Short stature, Pulmonic stenosis,... ORPHA:3098
Spastic Paraplegia 18, Autosomal Recessive
High palate, Kyphosis, Scoliosis OMIM:611225
Lethal Congenital Contracture Syndrome Type 1
Short stature, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Low-set, posterio... ORPHA:1486
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Carious teeth, Ventricular septa... OMIM:613680
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300602
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Short stature, Craniofacial osteosclerosis, Mandibular prognathia, Hearing impair... OMIM:122860
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Short neck, Scoliosis, Genu valgum OMIM:168400