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
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Hydrocephalus, Abnormal vertebral morphology, Anal atresia, ... OMIM:314390
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Frontal bossing, Narrow chest, Pectus carinatum, Mandibular prognathia, Kyphosis, Pect... OMIM:300676
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Supernumerary ribs, Abnormal facial shape, Vertebral fusion, Dextrocardia, Cleft palate... OMIM:221950
Mcdonough Syndrome
Scoliosis, Open bite, Short philtrum, Underdeveloped nasal alae, Macrotia, Low-set, posteriorly r... ORPHA:2471
Auriculocondylar Syndrome 2
Short mandibular rami, Round face, Narrow mouth, Dental crowding, Overfolding of the superior hel... OMIM:614669
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Attach... ORPHA:1327
Maxillonasal Dysplasia, Binder Type
Short nose, Depressed nasal bridge, Dental malocclusion, Patchy distortion of vertebrae, Large ea... OMIM:155050
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Herniation of interve... OMIM:601216
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Abnormality of the temporomandibular joint, Facial... ORPHA:477781
Maxillonasal Dysplasia
Scoliosis, Patchy distortion of vertebrae, Open bite, Short nose, Midface retrusion, Flat face, M... ORPHA:1248
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... ORPHA:2673
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Pectus... ORPHA:776
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Osteopo... OMIM:156510
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Hemifacial atrophy, Kyphosis, Short mandibular rami, Dental malocclusi... OMIM:141300
Alpha-Mannosidosis
Scoliosis, Open bite, Narrow palate, Mandibular prognathia, Corneal opacity, Abnormality of the h... ORPHA:61
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Atrial septal defect, Narrow mouth, Pectus carinatum, Wide nasa... ORPHA:261295
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventricular sept... ORPHA:1926
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Disproportionate short-trunk short stature, Thoracolumbar scoliosis, Abnormality of the maxilla, ... ORPHA:329252
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Hemifacial Hyperplasia
Dental malocclusion, Facial asymmetry, Hypoplasia of the maxilla OMIM:133900
Three M Syndrome 2
Triangular face, High palate, Short neck, Depressed nasal bridge, Hyperlordosis, Long philtrum, S... OMIM:612921
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Sensorineural hearing impairment, Triangular mouth, Micrognathia, Depressed nasa... OMIM:616331
Craniofacial-Deafness-Hand Syndrome
Short nose, Flat face, Sensorineural hearing impairment, Malar flattening, Hypoplasia of the maxilla OMIM:122880
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Short stature, Dental m... ORPHA:1858
X-Linked Intellectual Disability, Sutherland-Haan Type
Macrotia, Mandibular prognathia, Narrow face, Long face, Brachycephaly, Short stature, Hypoplasia... ORPHA:93950
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Enlarged thorax,... ORPHA:2570
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Cataract... ORPHA:90653
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Macrotia, Mandibular prognathia, Cupped ear, Narrow face, Long face... ORPHA:93945
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flatte... OMIM:241310
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Short neck, Frontal bossing, Elbow dislocation, Midface ... OMIM:108721
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short neck, Underdeveloped nasal alae, Macrotia, Diastema, Abnormal facial shape, Attached earlob... ORPHA:436245
Aarskog-Scott Syndrome
Oral cleft, Megalocornea, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, ... ORPHA:915
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Cuboid-shaped thoracolumbar vertebral bodies, Pectus carinat... OMIM:249630
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Narrow palate, Dental malocclusion, Increased overbite, High ... OMIM:613684
Catel-Manzke Syndrome
Short neck, Ventricular septal defect, Pectus carinatum, Pectus excavatum, Abnormality of the pin... OMIM:616145
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Right ao... OMIM:231060
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Atrial septal defect, Accessory oral frenulum, Large earlobe, Absen... ORPHA:79113
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Abnormality of the dentition, Short stature, Broad nasal tip, Hypoplasia of th... ORPHA:2776
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Midface retrusion, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisor... OMIM:618737
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Mandibular pro... OMIM:248950
Auriculocondylar Syndrome 1
Round face, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyl... OMIM:602483
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Prominent nasal bridge, Abnormal facial shape, Hypoplasia of the maxilla OMIM:608432
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Persistent open anter... ORPHA:1798
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Iris coloboma, Triangular face, ... OMIM:253250
Osteolysis Syndrome, Recessive
Short stature, Broad nasal tip, Knee flexion contracture, Elbow flexion contracture, Hypoplasia o... OMIM:259610
Cleft Velum
Conductive hearing impairment, Short face, Aspiration pneumonia, Cleft soft palate, Velopharyngea... ORPHA:99772
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wormian bones, Delayed eruption of teeth, Camptodactyly of finger, Abnormality of the philtrum, T... ORPHA:2863
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Holoprosencephaly 7
Hypoplasia of the premaxilla, Median cleft lip and palate, Absent nasal septal cartilage, Short n... OMIM:610828
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Ectopic anus, Hypoplastic left heart, Cleft... ORPHA:2476
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Midface retrusion, Complete atrioventricular canal defect, Diastema,... OMIM:619142
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Growth delay, Leukoencephalopathy, Short stature... OMIM:617744
Crouzon Disease
Narrow palate, Frontal bossing, Narrow internal auditory canal, Midface retrusion, Conductive hea... ORPHA:207
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Flat face, Rieger anomaly, Sensorineural hearing impairment,... OMIM:109120
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Rhombencephalosynapsis, Abno... ORPHA:280195
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, Thin upper l... OMIM:617877
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Flat face, Ulnar deviation of the wrist, Narro... ORPHA:1529
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Abnormal form of the vertebral bodies, Holoprosencepha... ORPHA:1590
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Long thorax, Abnormal rib cage morphology, Disharmonious carpal bone... OMIM:608154
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Large fontanelles,... OMIM:257850
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Harrod Syndrome
Scoliosis, Narrow mouth, Abnormal shoulder morphology, Kyphosis, Cataract, Narrow face, Long face... ORPHA:2115
Premature Aging Syndrome, Penttinen Type
Scoliosis, Wormian bones, Delayed eruption of teeth, Thin vermilion border, Thin calvarium, Midfa... OMIM:601812
Martsolf Syndrome 1
Short philtrum, Developmental cataract, Tooth malposition, Pectus carinatum, Pectus excavatum, Pr... OMIM:212720
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Fetal Trimethadione Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, High palate, Intrauterine... ORPHA:1913
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Macrotia, Cuboid-shaped thorac... ORPHA:3079
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dysphagia, ... ORPHA:89844
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Abnormality of the pinna, Cleft palate, High palate, Hypoplasia ... OMIM:246560
Holoprosencephaly 9
Prominent antihelix, Hypoplasia of the premaxilla, Short philtrum, Macrotia, Midface retrusion, A... OMIM:610829
22Q11.2 Duplication Syndrome
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Growth delay, Aplasia/Hypoplasia o... ORPHA:1727
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormal s... ORPHA:93262
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Pulmonary hypoplasia, Micrognathia, Hypoplasia of the maxilla OMIM:601809
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Dental crowding, Oxycephaly, Flat face, Mandibular prognathia, Abnormality of t... OMIM:101120
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Proportionate short stature, Postnatal growth retardation, Pulmonary arte... ORPHA:79345
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Torus palatinus, Clavicular sclerosis, Sensorineural hearing impairment... OMIM:144750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Respiratory tract infection, Short nose, Macrotia, Facial asymmetry, Wide nasal bridge... OMIM:218000
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Ventr... OMIM:208530
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypopl... ORPHA:50814
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Sensorineural hearing impairment, High palate, Coarse facia... ORPHA:192
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Intraute... OMIM:270100
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Protruding ear, Short stature, High palate, Prominent nasal bridge, Hypo... ORPHA:85279
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Otodental Syndrome
Progressive sensorineural hearing impairment, Carious teeth, Abnormal dental enamel morphology, P... ORPHA:2791
Frontonasal Dysplasia 1
Conductive hearing impairment, Hypoplastic frontal sinuses, Wide nasal bridge, Median cleft palat... OMIM:136760
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Subaortic Stenosis--Short Stature Syndrome
Subvalvular aortic stenosis, Round face, Narrow mouth, Anteverted nares, Membranous subvalvular a... OMIM:271960
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Unilateral vertebral artery hypoplasia, Dextrocardia, Short stature, Spin... OMIM:613686
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Meningocele, Dextrocardia, Duodenal ... ORPHA:1759
Kagami-Ogata Syndrome
Long philtrum, Atrial septal defect, Frontal bossing, Ventricular septal defect, Bell-shaped thor... OMIM:608149
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Cleft ... OMIM:601355
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal, Pectus excavatu... OMIM:264475
Neu-Laxova Syndrome 2
Scoliosis, Short neck, Abnormality of the pinna, Cleft palate, Intrauterine growth retardation, H... OMIM:616038
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture... OMIM:305620
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Absent nasal bridge, Conductive hearing impairment, Flat... OMIM:608545
Pentalogy Of Cantrell
Scoliosis, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Abnormal sternum ... ORPHA:1335
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Elbow dislocation, High p... ORPHA:1106
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Short philtrum, Atrial septal defect, Thick lower lip vermilion, Ventricular septal de... OMIM:608227
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, O... ORPHA:199306
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Postnatal growth retardation, Caudal in... ORPHA:439822
Weill-Marchesani Syndrome 1
Scoliosis, Broad skull, Shallow anterior chamber, Narrow palate, Tooth malposition, Abnormality o... OMIM:277600
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, High palate, Advanced ossification of carpal bones, Micrognathia, Hyper... OMIM:618363
Heart And Brain Malformation Syndrome
Aplasia/Hypoplasia of the corpus callosum, Interrupted aortic arch, Global brain atrophy, Ventric... OMIM:616920
Crouzon Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Dental crowding, Conductive hearing impairment, Abn... OMIM:123500
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling OMIM:618383
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Pycnodysostosis
Scoliosis, Wormian bones, Carious teeth, Delayed eruption of primary teeth, Narrow palate, Absent... OMIM:265800
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngeal stridor, La... OMIM:616202
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Anteverted nares, Abnormal t... ORPHA:2412
Mosaic Trisomy 20
Scoliosis, Narrow chest, Ventricular septal defect, Dysplastic tricuspid valve, Abnormal mitral v... ORPHA:1724
Multicentric Carpotarsal Osteolysis Syndrome
Carpal osteolysis, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla OMIM:166300
Axenfeld-Rieger Syndrome
Midface retrusion, Everted lower lip vermilion, Posterior embryotoxon, Aplasia/Hypoplasia of the ... ORPHA:782
Potocki-Lupski Syndrome
Scoliosis, Atrial septal defect, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philt... OMIM:610883
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... ORPHA:3426
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Delayed eruption of teeth, Carious teeth, Hyperlordosis, Narrow palate, Long philtrum,... OMIM:190350
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Sensorineural hearing impairment, Spina bifida occulta, H... OMIM:201000
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections, Conjuncti... ORPHA:2399
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Micrognathia, Widely-spaced maxillary central incis... ORPHA:363417
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Atrial septal defect, Frontal bossing, Ventricular septal defect, Abnormally fold... OMIM:309520
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... ORPHA:294975
Shashi-Pena Syndrome
Scoliosis, Atrial septal defect, Kyphosis, Posteriorly rotated ears, Long face, Broad nasal tip, ... OMIM:617190
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Lessel-Kreienkamp Syndrome
Atrial septal defect, Frontal bossing, Overfolded helix, Hypoplastic helices, Open mouth, Plagioc... OMIM:619149
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Bulbous nose, Stillbirth, Cerebellar hypoplasia, Neonatal death, Hyd... OMIM:236500
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Midface retrusion, Pectus carinatum, Mandibular prognathia, Everted lower lip vermilion, Thick ve... OMIM:603463
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Vacterl/Vater Association
Abnormality of the ribs, Anencephaly, Laryngomalacia, Intrauterine growth retardation, Cleft pala... ORPHA:887
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Ayme-Gripp Syndrome
Pericarditis, Narrow mouth, Mandibular prognathia, Sensorineural hearing impairment, Broad philtr... OMIM:601088
Cohen Syndrome
Genu valgum, Short philtrum, Cubitus valgus, Open mouth, Macrodontia of permanent maxillary centr... OMIM:216550
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Dislocated radial head, Dental crowding, Proportionate short statur... OMIM:210600
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Noonan Syndrome 4
Scoliosis, Cubitus valgus, Thickened helices, Atrial septal defect, Ventricular septal defect, Ab... OMIM:610733
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Delayed eruption of teeth, Narrow mouth, Midface retrusion, Pectus cari... OMIM:613849
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Genu recurvatum, Emphysema, Birth... OMIM:613804
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Scapular winging, Bulbous nose, Prominent frontal sinu... OMIM:170390
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Delayed puberty, Supe... ORPHA:3145
Limb Body Wall Complex
Short umbilical cord, Choanal atresia, Iris coloboma, Corneal opacity, Abnormal thorax morphology... ORPHA:2369
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Posteriorly rotated ears, High palate, Retrognathia, Micrognathia OMIM:618393
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Abnormal heart morphology, Mandibular prognathia, Everted lower lip vermilion, An... OMIM:601499
Marshall Syndrome
Hypoplastic frontal sinuses, Sensorineural hearing impairment, High palate, Micrognathia, Osteoar... ORPHA:560
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasa... OMIM:234100
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Micrognathia, Cataract, Prominent nose OMIM:614882
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Low-set, pos... ORPHA:1388
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Delayed eruption of teeth, Platyspondyly, Dislocated radial head, Campt... OMIM:612350
Short-Rib Thoracic Dysplasia 12
Narrow chest, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Patent ductus arteriosus,... OMIM:269860
8P23.1 Microdeletion Syndrome
Short nose, Enlarged thorax, High palate, Growth delay, Patent ductus arteriosus, Abnormal aortic... ORPHA:251071
Short Syndrome
Delayed eruption of teeth, Frontal bossing, Macrotia, Midface retrusion, Downturned corners of mo... OMIM:269880
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Macrotia, High, narrow palate, Flat occiput, Cataract, Atlantoaxial abnormality, Short stature, K... ORPHA:3433
Cohen Syndrome
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Iris coloboma, Delayed puberty, Sensorin... ORPHA:193
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Rhizomelia, Ovoid vertebral bodies, Severe platyspondyly, Postnatal gro... OMIM:608940
Weill-Marchesani Syndrome 2
Scoliosis, Narrow palate, Proportionate short stature, Lens luxation, High palate, Elbow flexion ... OMIM:608328
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posteriorly rotated ears, Conductive... ORPHA:1307
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Abnormality of the antihelix, Short philtrum, Tooth malposition, Midfac... ORPHA:1387
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Anteverted nares, Thick upper lip vermilion, Micrognathia, Coarse fac... OMIM:617616
Van Maldergem Syndrome 2
Scoliosis, Downturned corners of mouth, Narrow chest, Atresia of the external auditory canal, Sen... OMIM:615546
Craniofaciofrontodigital Syndrome
Long philtrum, Cubitus valgus, Short nose, Frontal bossing, Abnormal heart morphology, Anteverted... OMIM:114620
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Acrodysostosis
Open bite, Delayed eruption of teeth, Short nose, Open mouth, Abnormal form of the vertebral bodi... ORPHA:950
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Corneal opacity, Small anterior f... ORPHA:2409
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Low-set, posteriorly rotated ears, Umbilical hernia, ... ORPHA:2166
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Frank-Ter Haar Syndrome
Wormian bones, Megalocornea, Double outlet right ventricle, High palate, Mitral valve prolapse, M... OMIM:249420
Saethre-Chotzen Syndrome
Scoliosis, Open bite, Abnormality of the antihelix, Craniosynostosis, Narrow palate, Narrow inter... ORPHA:794
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Anal a... OMIM:220210
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Van Maldergem Syndrome 1
Scoliosis, Downturned corners of mouth, Narrow chest, Atresia of the external auditory canal, Sen... OMIM:601390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Scoliosis, Hypoplasia of the brainstem, Atrial septal defect, Pachygyria, Type II lissencephaly, ... OMIM:253800
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... OMIM:300280
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Microretrognathia, Abnormality of the pinna, Thick vermilion... ORPHA:228396
Marden-Walker Syndrome
Scoliosis, Long philtrum, Short neck, Wide anterior fontanel, Narrow mouth, Radioulnar synostosis... OMIM:248700
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Craniosynostosis, Narrow palate, High palate, Mitral valve prolapse, Micrognathia, Sup... OMIM:182212
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Short philtrum, Short neck, Frontal bossing, Large f... ORPHA:93267
Distal 7Q11.23 Microdeletion Syndrome
Porencephalic cyst, Atrial septal defect, Patent ductus arteriosus, Arnold-Chiari malformation, M... ORPHA:254351
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Low-set, posteriorly rotated ears,... ORPHA:137888
8Q22.1 Microdeletion Syndrome
Long philtrum, Abnormality of the antihelix, Craniosynostosis, Camptodactyly of finger, Abnormali... ORPHA:178303
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Severe short sta... OMIM:203550
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Posterior rib gap, Kyphosis, Bell-sh... ORPHA:1393
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Narrow chest, Cerebellar vermis hypoplasia, Anencephaly, Short ribs, Polymi... OMIM:616546
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Round face, Short nose, Open mouth, Everted lower li... OMIM:137550
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... OMIM:265900
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Midface retrusion, Choanal atresia, Acetabular dysplasia, Short stature, Cleft ... OMIM:616462
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... OMIM:601322
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Mandibular prognathia, Hypoplastic vertebral bodies, Disproportionate short-limb short... OMIM:101800
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Gastroesophageal reflu... OMIM:156810
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, T... OMIM:603387
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Narrow chest, Vent... ORPHA:1354
8P Inverted Duplication/Deletion Syndrome
Scoliosis, Long philtrum, Round face, Short neck, Macrotia, Abnormal heart morphology, Everted lo... ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrotia, Mandibular prognathia, Diastema, Pectus excavatum, Smooth philtrum, Thin upper lip verm... OMIM:300534
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Acrootoocular Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Atresia of the external auditory canal,... ORPHA:2980
Thakker-Donnai Syndrome
Communicating hydrocephalus, Bulbous nose, Ventricular septal defect, Hemivertebrae, Cervical C2/... ORPHA:1780
Non-Distal Trisomy 10Q
Scoliosis, Short nose, Frontal bossing, Low-set, posteriorly rotated ears, Everted lower lip verm... ORPHA:1695
Frontorhiny
Scoliosis, Camptodactyly of finger, Midline nasal groove, Low-set, posteriorly rotated ears, Hypo... ORPHA:391474
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Congenital hip dislocation, Midface retrusion, Kyphosis, Abnormality of the pinna, Mic... OMIM:618291
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Atrial septal defect, Abnormal vertebral morphology, Abnormal heart ... ORPHA:261197
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Hydrocephalus, Abnormal vertebral morphology, Anal atresia, ... OMIM:314390
Ck Syndrome
Scoliosis, Hyperlordosis, Prominent nasal bridge, Dental crowding, Kyphosis, Posteriorly rotated ... OMIM:300831
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Conjunctival hyperemia, Abnormality of the pinna, Wide nasal bridge, C... OMIM:167730
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... ORPHA:1801
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Ulnar radial head dislocation, Hypoplasia of the maxilla OMIM:264270
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Bulbous nose, Corneal opacity, Interphalangeal joint ... OMIM:259600
Van Den Ende-Gupta Syndrome
Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palate, High, narrow palate, E... OMIM:600920
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Frontal bossing, Narrow chest, Low-set, posteriorly rotated ... ORPHA:1703
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Overfolded helix, Choanal atresia, Depressed nasal bridg... OMIM:602535
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Sensorineural hearing impairment, Short st... ORPHA:2662
Shprintzen-Goldberg Syndrome
Scoliosis, Craniosynostosis, Narrow chest, Elbow dislocation, Mitral valve prolapse, High, narrow... ORPHA:2462
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Broad nasal tip, ... OMIM:252100
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Nager Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Abnormal palate morpho... ORPHA:245
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Pectus exc... ORPHA:77300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Pectus carinatum, Abnormality of t... ORPHA:3268
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Long face, Dental malocclusion OMIM:608931
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Tetralog... ORPHA:261243
Meckel Syndrome, Type 1
Intestinal malrotation, Patent ductus arteriosus, Anencephaly, Lobulated tongue, Arnold-Chiari ma... OMIM:249000
Zimmermann-Laband Syndrome
Macroglossia, Short neck, Gingival fibromatosis, Bulbous nose, Growth delay, Wide mouth, Hypodont... ORPHA:3473
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hearing impairment, Right ventricula... OMIM:614261
Maternal Uniparental Disomy Of Chromosome 9
Short neck, Abnormal vertebral morphology, Elbow ankylosis, Facial asymmetry, Long face, Kyphosco... ORPHA:96183
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Growth delay, Cataract, Microcornea, Brachycephaly, Short stature, High palate, Ret... ORPHA:2528
Aarskog-Scott Syndrome
Scoliosis, Round face, Short nose, Mild short stature, Hypoplasia of the odontoid process, Pectus... OMIM:305400
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Short philtrum, Mandibular prognathia, Kyphosis, Protruding ear, Cleft palate, Promine... ORPHA:85317
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Myopathy, Myofibrillar, 8
Scoliosis, Scapular winging, Pectus excavatum, Joint contracture of the 5th finger, Long face, Sp... OMIM:617258
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Intestinal malrotation, Dextrocardia, Double ou... OMIM:605376
Cowden Syndrome 5
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... OMIM:615108
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Scoliosis, Atrial septal defect, Cerebral white matter atroph... ORPHA:435638
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Optic... ORPHA:1528
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Chronic bronch... OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Macrotia, Kyphosis, Thick vermilion border, Hypodontia, High palate,... OMIM:617061
Grant Syndrome
Open bite, Wormian bones, Abnormality of the ribs, Abnormality of the glenoid fossa, Large fontan... ORPHA:2097
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Large font... ORPHA:1452
Sclerosteosis 1
Broad ribs, Frontal bossing, Midface retrusion, Mandibular prognathia, Sclerotic vertebral endpla... OMIM:269500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cerebellar hypop... OMIM:615287
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of ... ORPHA:370959
Jackson-Weiss Syndrome
Frontal bossing, Midface retrusion, Mandibular prognathia, Abnormal palate morphology, Turricepha... ORPHA:1540
Muenke Syndrome
Midface retrusion, Plagiocephaly, Capitate-hamate fusion, Hearing impairment, Sensorineural heari... OMIM:602849
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Narrow chest, Intestinal malrotation, Horizontal ribs, Disproportionate... ORPHA:1505
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Craniosynostosis, Narrow chest, Postnatal growth retardation, Hemivertebrae, High pala... OMIM:213980
Geroderma Osteodysplasticum
Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Mandibular... OMIM:231070
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Narrow mouth, Frontal bossing, Short nose, Smooth philtrum, Abno... OMIM:608156
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Thoracic kyphoscoliosis, Bulbous nose, Macrotia, Overfolded... ORPHA:481152
Distal Trisomy 5Q
Long philtrum, Carious teeth, Craniosynostosis, Thin vermilion border, Narrow mouth, Short nose, ... ORPHA:96097
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Pulmonary artery stenosi... ORPHA:2255
Congenital Herpes Simplex Virus Infection
Intrauterine growth retardation, Microcephaly, Hydranencephaly ORPHA:293
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Meier-Gorlin Syndrome 5
Small earlobe, Long philtrum, Elbow dislocation, Triangular face, Birth length less than 3rd perc... OMIM:613805
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hypoplastic helices, Thin calvarium, Low-set, posteriorly rotated... ORPHA:2437
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Frontal bossing, Taurodontia, Thick lower lip vermilion... OMIM:157980
Apert Syndrome
Narrow palate, Large fontanelles, Mandibular prognathia, Choanal atresia, Sensorineural hearing i... ORPHA:87
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Conductive hearing impairment, Abnormality of the dentition, Umbilical hernia, Brach... ORPHA:2095
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Pectus carinatum, Decreased calvarial ossification, Kyph... OMIM:259440
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Scoliosis, Short philtrum, Recurrent bronchitis, Drooling, Frontal bossing, Un... OMIM:619293
Constricting Bands, Congenital
Scoliosis, Ectopia cordis, Abnormal rib cage morphology, Cleft upper lip, Cleft palate, Abnormal ... OMIM:217100
Flat Face-Microstomia-Ear Anomaly Syndrome
Scoliosis, Abnormality of the antihelix, Narrow mouth, Downturned corners of mouth, Underdevelope... ORPHA:1968
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Platyspondyly, Trismus, Kyphoscoliosis OMIM:616583
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Corneal opacity, Grayish enamel, Abn... ORPHA:582
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Conductive hearing impairment, Low-set, post... ORPHA:1131
Ververi-Brady Syndrome
Scoliosis, Bulbous nose, High palate, Intrauterine growth retardation, Transposition of the great... OMIM:617982
Slc35A2-Cdg
Scoliosis, Cerebral white matter atrophy, Abnormal midbrain morphology, Elevated circulating thyr... ORPHA:356961
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Abnormality... ORPHA:85321
Craniofacioskeletal Syndrome
Atrial septal defect, Shield chest, Interrupted aortic arch, Ventricular septal defect, Hypoplast... OMIM:300712
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Mandibular prognathia, Ovoid vertebral bodies, Large elbow, Grayish ena... OMIM:253000
Cowden Syndrome 6
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... OMIM:615109
Chromosome 15Q25 Deletion Syndrome
Growth delay, Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Short stat... OMIM:614294
Meier-Gorlin Syndrome 3
Narrow mouth, Narrow chest, Triangular face, Birth length less than 3rd percentile, Bronchomalaci... OMIM:613803
Kabuki Syndrome 2
Atrial septal defect, Broad nasal tip, Macrotia, Natal tooth, Postnatal growth retardation, Hypod... OMIM:300867
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Distal Xq28 Microduplication Syndrome
Absent antihelix, Open mouth, Dental crowding, Recurrent upper respiratory tract infections, Shor... ORPHA:293939
Elsahy-Waters Syndrome
Mandibular prognathia, Megalocornea, High palate, Broad philtrum, Hypoplasia of the maxilla, Long... OMIM:211380
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Scoliosis, Long philtrum, Camptodactyly of finger, Aniridia, Mandibular prognathia, High, narrow ... ORPHA:1101
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Beaking of vertebr... ORPHA:137834
Angelman Syndrome
Scoliosis, Macroglossia, Drooling, Mandibular prognathia, Flat occiput, Wide mouth, Protruding to... OMIM:105830
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Small earlobe, Narrow mouth, Downturned corners ... OMIM:211910
Chromosome 13Q33-Q34 Deletion Syndrome
Narrow chest, High palate, Pyloric stenosis, Choanal atresia, Patent ductus arteriosus, Anencepha... OMIM:619148
Schisis Association
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Microcephaly, Tracheoesophageal fistula ORPHA:63862
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Large fontanelles, Overfolded helix, Denta... OMIM:300373
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Low-set, posteriorly rotated ... ORPHA:1110
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Frontal bossing, Taurodontia, Thick lower lip vermilion... ORPHA:2563
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal, Sm... OMIM:224690
Myhre Syndrome
Platyspondyly, Thin vermilion border, Abnormality of the ribs, Narrow mouth, Midface retrusion, C... ORPHA:2588
Meckel Syndrome, Type 10
Sacral dimple, Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614175
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Micrognathia, Depressed ... ORPHA:97360
Cri-Du-Chat Syndrome
Scoliosis, Short philtrum, Round face, Downturned corners of mouth, Thick lower lip vermilion, Mi... OMIM:123450
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Abnormal facial shape, Limitation of knee mobility, Triangular face, Protruding ear... ORPHA:319171
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Type II lissencephaly, Postna... ORPHA:300570
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Long philtrum, Drooling, Downturned corners of mouth, Dental crowding, ... OMIM:615761
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Growth delay, Paten... OMIM:179613
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, High palate, Cerebellar hypoplasi... OMIM:619072
Intermediate Osteopetrosis
Abnormality of dental morphology, Back pain, Abnormality of the dentition, Osteosclerosis of the ... ORPHA:210110
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Short philtrum, Short nose, Mandibular prognathia, Kyphosis, Everted lower lip vermili... ORPHA:2429
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Posterior rib fusion, Intestinal malrotation, Patent ductus ... OMIM:265380
Trisomy 18
Abnormality of the ribs, Spina bifida, Atrial septal defect, Narrow palate, Aplasia/Hypoplasia of... ORPHA:3380
Achard Syndrome
Broad skull, Micrognathia, Brachycephaly OMIM:100700
White Forelock With Malformations
Bronchomalacia, Prominent veins on trunk, Atrial septal defect OMIM:277740
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary... OMIM:234250
Acro-Renal-Mandibular Syndrome
Scoliosis, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, Short neck, ... ORPHA:958
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, Delayed puberty, High palate, Micrognathia ORPHA:2598
Autosomal Recessive Stickler Syndrome
Platyspondyly, Genu valgum, Flat face, Irregular vertebral endplates, Cataract, Sensorineural hea... ORPHA:250984
Mosaic Trisomy 9
Scoliosis, Bulbous nose, Large fontanelles, Elbow dislocation, Corneal opacity, Hemivertebrae, De... ORPHA:99776
Faciodigitogenital Syndrome, Autosomal Recessive
Prominent nasal bridge, Narrow palate, Short nose, Proportionate short stature, Deep philtrum, Pe... OMIM:227330
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Postnatal growth retardation, Abnormality of the ribs, High palate, Short neck, Microg... OMIM:611209
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Pectus excavatum, Abnormality o... ORPHA:3270
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Cerebral atrophy, Hepatic bridging fibrosis, Elev... OMIM:613759
Stickler Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Sensorineural hearing impairment, Mitral... ORPHA:828
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large fontanelles, Spina bifida occulta, High, narrow palate, Micrognathia, Hyperlordo... ORPHA:2780
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Aspi... OMIM:619057
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine ... OMIM:225790
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Frontal bossing, D... ORPHA:313892
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Congenital hip dislocation, Enlarged ... ORPHA:2616
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Mandibular prognathia, Ovoid vertebral bodies, Grayish enamel, Coarse f... OMIM:253010
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Frontal bossing, Abnormal form of the v... ORPHA:40
Branchioskeletogenital Syndrome
Carious teeth, Craniosynostosis, Thin vermilion border, Downturned corners of mouth, Mandibular p... ORPHA:1299
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Craniodiaphyseal Dysplasia
Frontal bossing, Craniofacial hyperostosis, Conductive hearing impairment, Wide nasal bridge, Sho... ORPHA:1513
Charge Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Patent ductus arteriosus, Postn... ORPHA:138
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Abnormal clavicle morphology, Hypopl... ORPHA:628
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Open bite, Carious teeth, Low-set, posteriorly rotated ears, Kyphosis, Abnormal palate... ORPHA:2617
Severe Oculo-Renal-Cerebellar Syndrome
Scoliosis, Macrotia, Mandibular prognathia, Wide mouth, Cataract, Narrow face, Hypoplasia of the ... ORPHA:2715
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Scoliosis, Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the ... OMIM:617542
Turnpenny-Fry Syndrome
Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, Mitral valve pro... OMIM:618371
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal axo... OMIM:613807
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Abnormal vertebral mor... ORPHA:93359
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Cataract, Microcornea, Abnormality of the cervical ... ORPHA:48431
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Growth delay, Patent ductus arteriosus, Short stature, ... OMIM:147770
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Hypop... OMIM:612946
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Achondrogenesis Type 1B
Long philtrum, Short thorax, Disproportionate short stature, Short nose, Frontal bossing, Narrow ... ORPHA:93298
Greenberg Dysplasia
Tracheal calcification, Narrow chest, Abnormal scapula morphology, Cardiomegaly, Micrognathia, Hy... OMIM:215140
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Oliver Syndrome
Scoliosis, Small earlobe, Short philtrum, Camptodactyly of finger, Mandibular prognathia, Knee fl... ORPHA:2920
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Pelvis-Shoulder Dysplasia
Spina bifida, Aplasia/Hypoplasia of the scapulae, Abnormal form of the vertebral bodies, Neonatal... ORPHA:2839
Hajdu-Cheney Syndrome
Wormian bones, High palate, Short neck, Micrognathia, Coarse facial features, Vertebral compressi... OMIM:102500
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Iris coloboma, Sensorineural hearing impairment, Small face,... ORPHA:3242
Pfeiffer Syndrome
Humeroradial synostosis, Short nose, Dental crowding, Mandibular prognathia, Cloverleaf skull, Ch... OMIM:101600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Dental crowding, Postnatal growth retardation, High palate, Short neck, Micrognathi... ORPHA:251028
3Mc Syndrome 2
Prominence of the premaxilla, Craniosynostosis, Abnormality of the vertebral column, Abnormal ver... OMIM:265050
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Short stature, M... OMIM:605013
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Rectovaginal fistula, Aplastic clavicle, Truncus arteriosus, Arrhinenceph... ORPHA:2538
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Square face, Wide mouth, Thick upper lip vermilion, Postnatal growth retar... OMIM:309545
Cerebrofacioarticular Syndrome
Narrow mouth, Large fontanelles, Abnormal heart morphology, Conductive hearing impairment, Abnorm... ORPHA:314679
Pfeiffer Syndrome
Hyperlordosis, Short philtrum, Open mouth, Synostosis of carpal bones, Flat face, Mandibular prog... ORPHA:710
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... OMIM:259420
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Growth delay, Midgut malrotat... ORPHA:2326
1Q21.1 Microdeletion Syndrome
Scoliosis, Ankyloglossia, Bulbous nose, Hydrocephalus, Interrupted aortic arch, High palate, Pate... ORPHA:250989
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Pectus excavatum, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, ... ORPHA:2835
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Scoliosis, Slender nose, Short nose, Macrotia, Pectus carinatum, Wide mouth, Smooth philtrum, Tri... OMIM:615419
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cofs Syndrome
Camptodactyly of finger, Micrognathia, Everted lower lip vermilion, Wide nasal bridge, Cataract, ... ORPHA:1466
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Pursed lips, Narrow mouth, Overfolded helix, Elbow dislocation, Odontog... ORPHA:800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the antihelix, Short neck, Frontal bossing, Conductive hearing impairment, Pectus ... ORPHA:3082
Marden-Walker Syndrome
Scoliosis, Narrow mouth, Dextrocardia, Micrognathia, Situs inversus totalis, Radioulnar synostosi... ORPHA:2461
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Abnormal form of the ... ORPHA:2916
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Long philtrum, Shoulder flexion contracture, Narrow mouth, Underdeveloped... OMIM:277720
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Hypoplastic right heart, Downturned corners of mouth, Triangular mouth, Patent foramen... OMIM:616894
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia OMIM:173800
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... OMIM:616294
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Abnormality of the ribs, Short thorax, Posterior rib fusion, Anteverted... ORPHA:1797
Trisomy 9P
Scoliosis, Impacted tooth, Downturned corners of mouth, Macrotia, Dental crowding, Kyphosis, Sacr... ORPHA:236
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Dental malocclusion, Abnormal fac... ORPHA:363444
7Q11.23 Microduplication Syndrome
Thin vermilion border, Craniosynostosis, Overfolded helix, Asymmetric crying face, Hemivertebrae,... ORPHA:96121
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... ORPHA:163979
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Joint contracture ... OMIM:608257
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Short neck, Abnormality of dental morphology, Kyphos... ORPHA:2522
Hemifacial Microsomia
Anotia, Branchial anomaly, Atresia of the external auditory canal, Hemivertebrae, Sensorineural h... OMIM:164210
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Scapular winging, Microretrognathia, Down-sloping shoulders, Wide nasal bridge, Cu... OMIM:615560
Weiss-Kruszka Syndrome
Colpocephaly, Short nose, Ventricular septal defect, Hypoplasia of the corpus callosum, Dextrotra... OMIM:618619
Three M Syndrome 1
Mandibular prognathia, Postnatal growth retardation, Triangular face, Spina bifida occulta, Short... OMIM:273750
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... OMIM:256520
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Oval face, Ventricular septal defect, Conductive hearing impairment, Atresia of the external audi... OMIM:106260
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Hypodontia, Narrow nose, Hearing i... OMIM:129400
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Recurrent respiratory infections, Ventricular septal... OMIM:253300
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Short neck, Membranous subvalvular aortic stenosis, Sy... ORPHA:3191
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Deep philtrum, Abnormal facial shape, Thin upper lip vermilion, Trigonocep... ORPHA:329178
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Persistence of primary teeth, Facial asymmetry, Wide nasal bridge... OMIM:618727
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Antley-Bixler Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Frontal bossing, Short no... ORPHA:83
Cowden Syndrome 1
Scoliosis, Narrow mouth, Kyphosis, Pectus excavatum, Furrowed tongue, Cataract, Hearing impairmen... OMIM:158350
22Q11.2 Deletion Syndrome
Scoliosis, Bulbous nose, Choanal atresia, Intestinal malrotation, Patent ductus arteriosus, Abnor... ORPHA:567
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Hearing impairment, Kyphosis OMIM:617087
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI OMIM:614173
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Dental crowding, Atresia of the external auditory canal, Iris coloboma,... ORPHA:2789
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Abnormality of the antihelix, Craniosynostosis, Short nose, Intrauterine... ORPHA:2145
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Distal Monosomy 19P13.3
Pulmonary valve atresia, Short philtrum, Ventricular septal defect, Conductive hearing impairment... ORPHA:96129
Ear-Patella-Short Stature Syndrome
Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal... ORPHA:2554
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Mandibular prognathia, Protruding ear, Kyphosis OMIM:300861
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Atrial septal defect, Broad nasal tip, Frontal bossing, Conductive... OMIM:617808
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Frontal bossing, Coronal cleft vertebrae, Flat face, Rhizomelia, Severe s... OMIM:215100
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Bulbous nose, Patent foramen ovale, Short neck, Transposition of the great arteries... OMIM:616789
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Posteriorly rotated e... OMIM:618392
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Scoliosis, Morphological abnormality of the gastrointestinal ... ORPHA:404440
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Frontal bossing, Cataract, Short stature, Malar ... ORPHA:85172
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Scoliosis, Pectus excavatum, Iris coloboma, Cupped ear, Sensorineural hearing impairment, Short s... OMIM:300472
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Severe short stature, Horizontal sacrum, Calvarial hyperostosis, Delayed eru... OMIM:112350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Aplasia/Hypoplasia involving bones of the thorax, Dysgenesis of the cerebellar vermis, Abnormalit... ORPHA:397715
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Scoliosis, Hyperlordosis, Thoracic kyphosis, Wide nasal bridg... ORPHA:557003
Ellis Van Creveld Syndrome
Thin vermilion border, Narrow chest, Dextrocardia, Aplasia/Hypoplasia of the lungs, Genu valgum, ... ORPHA:289
Takenouchi-Kosaki Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Downturned corners of mouth, Midface retr... OMIM:616737
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Narrow nose, Hypoplasia of the maxilla, R... OMIM:101400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Narrow mouth, Narrow chest, Mandibular prognathia... ORPHA:96334
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Short philtrum, Atrial septal defect, Narrow mouth, Abnormal heart morphology, Kyphosi... ORPHA:352490
Wolf-Hirschhorn Syndrome
Scoliosis, Downturned corners of mouth, Iris coloboma, Oral cleft, Ectopia pupillae, Sensorineura... OMIM:194190
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Frontal bossing, Anteverted nares, Genu recurvatum, Kyphosis, Maxillary l... OMIM:300431
Cerebellar-Facial-Dental Syndrome
Scoliosis, Long philtrum, Short neck, Taurodontia, Ventricular septal defect, Midface retrusion, ... ORPHA:444072
Caudal Regression Sequence
Scoliosis, Arrhinencephaly, Pulmonary hypoplasia, Anal atresia, Abnormal vertebral segmentation a... ORPHA:3027
Tatton-Brown-Rahman Syndrome
Scoliosis, Atrial septal defect, Arnold-Chiari type I malformation, Umbilical hernia, Encephaloma... OMIM:615879
Myhre Syndrome
Narrow mouth, Mandibular prognathia, Pericardial effusion, Birth length less than 3rd percentile,... OMIM:139210
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Oligodontia, Frontal bossing, Pectus carinatum, Kyphosis, Everted lower lip vermilion,... ORPHA:276630
Cardiofaciocutaneous Syndrome 1
Scoliosis, Open bite, Bulbous nose, Open mouth, Shield chest, High palate, Short neck, Micrognath... OMIM:115150
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Bird-like facies, Fragile teeth, Hypodontia, Catara... ORPHA:2959
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Cataract, Carious teeth, Kyphoscoliosis OMIM:136300
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Fryns Syndrome
Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Intestinal malrotation, Ectopic pan... OMIM:229850
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Hydroc... OMIM:313850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Short stature, Intrauterine growth retardation, Micrognathia, Prominent nose OMIM:616171
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Scoliosis, Macrotia, Protruding ear, Patellar hypoplasia, Micrognathia OMIM:251240
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Midface retrusion, Growth delay, Posteriorly rotated ears, Short stature... OMIM:614727
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Basilar Impression, Primary
Platybasia, Short neck, Craniofacial asymmetry, Kyphoscoliosis OMIM:109500
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal heart... ORPHA:79264
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Cataract, Opacification of the corneal stroma, Short stature, Hypoplasia of the maxilla OMIM:211370
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Microretrognathia, Low-set, posteriorly rotated ears, Abnormal palate ... ORPHA:1786
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Severe short stature, Short neck OMIM:168400
Distal Trisomy 6P
Thin vermilion border, Narrow mouth, Frontal bossing, Micrognathia, Aplasia/Hypoplasia of the ear... ORPHA:1745
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Severe short stature, Triangular face, Posteriorly rotated ears, Retrog... OMIM:617352
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Partial agenesis of the corpus callo... OMIM:617478
Fanconi Anemia, Complementation Group S
Prominent nasal bridge, Narrow palate, Anteverted nares, Thick upper lip vermilion, Short stature... OMIM:617883
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Hypoplasia of the corpus callosum, Sho... OMIM:300887
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Wi... OMIM:122860
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Bulbous nose, Postnatal growth retardation, Cataract, Hearing impairment, Short stature, Broad na... OMIM:612947
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Frontal bossing, Ventricular septal defect, Conductive hearin... ORPHA:1488
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Short stature, Ventricular septal defect OMIM:270460
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Heterochromia iridis, Low-set, posteriorly rotated ears, Abnormal palat... ORPHA:1390
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Short neck, Wide anterior fontanel, Abnormal ... ORPHA:3098
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Abnormality of the antihelix, Macroglossia, Bulbous nose, Short nose, Excessive saliva... ORPHA:261144
Hamamy Syndrome
Long philtrum, Craniosynostosis, Atrial septal defect, Pectus excavatum, Down-sloping shoulders, ... OMIM:611174
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Frontal bossing, Anteverted nares, Genu recurvatum, Kyphosis, Maxillary l... OMIM:300602
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... ORPHA:3097
Leukodystrophy, Hypomyelinating, 17
Mandibular prognathia, Gingival overgrowth, Kyphoscoliosis, Short stature, Anteverted nares, Wide... OMIM:618006
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Frontal bossing, Flat face, Kyphosis, Rhizomelia, Abnormality of t... ORPHA:35173
Zttk Syndrome
Scoliosis, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, He... OMIM:617140
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Tracheal atresia, Anencephaly, Laryngom... ORPHA:2189
3C Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Postnatal growth retarda... ORPHA:7
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Large fontanelles, Mandibular prognathia, Choanal at... OMIM:101200
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Dental crowding, High palate, Short neck, Micrognathia, Long philtrum, ... OMIM:130720
Melnick-Needles Syndrome
Scoliosis, Delayed eruption of teeth, Short thorax, Anisospondyly, Tooth malposition, Frontal bos... ORPHA:2484
Cach Syndrome
T2 hypointense thalamus, Dysphagia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Hepatospl... ORPHA:135
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Hydrocephalus, Short nose, Ventricular septal defect, Wide nasal bridge, Hemiverteb... OMIM:227255
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Ventricular septal defect, Abnormal facial shape, Dental malocclusion, Long nose OMIM:613680
Brachyolmia Type 1, Hobaek Type
Scoliosis, Pectus carinatum, Kyphosis, Back pain, Disproportionate short-trunk short stature, Fla... OMIM:271530
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Dental maloc... ORPHA:2785
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Genu recurvatum, Pectus carinatum, Mandibular prognathia, Kyph... OMIM:609008
Ck Syndrome
Dental crowding, Microretrognathia, Posteriorly rotated ears, Lumbar hyperlordosis, Narrow face, ... ORPHA:251383