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
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Esophageal atresia, Hydrocephalus, Anal atresia, Pulmon... OMIM:314390

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dental Anomalies And Short Stature
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... OMIM:601216
Mcdonough Syndrome
Dental malocclusion, Mandibular prognathia, Macrotia, Kyphosis, Short stature, Micrognathia, Shor... ORPHA:2471
Spinocerebellar Ataxia 27A
Gait ataxia, Postural tremor, Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, ... OMIM:193003
Neurofaciodigitorenal Syndrome
Brachycephaly, Abnormality of the philtrum, Mandibular prognathia, Plagiocephaly, Abnormality of ... ORPHA:2673
Lujan-Fryns Syndrome
Brachycephaly, Camptodactyly of finger, High palate, Micrognathia, Dental crowding, Short philtru... ORPHA:776
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Facial asymmetry, Anterior open-bite malocclusion,... ORPHA:477781
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Narrow... OMIM:300676
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:614669
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Camptodactyly of finger, Midface retrusion, Pectus excavatum, Scapular winging, Ab... ORPHA:1327
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Positive Romberg sign, Ataxia, Vestibular ar... OMIM:614575
Spinocerebellar Ataxia 6
Truncal ataxia, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Dysmetria, Cerebellar atrophy,... OMIM:183086
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Microtia, Delayed eruption of teeth, Tongue atrophy, Hemifacial at... OMIM:141300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature lo... OMIM:156510
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Large earlobe OMIM:155050
Maxillonasal Dysplasia
Vertebral clefting, Flat face, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia... ORPHA:1248
Alpha-Mannosidosis
Dental malocclusion, Mandibular prognathia, Macrotia, Narrow palate, Kyphosis, Widely spaced teet... ORPHA:61
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Macrotia, Short stature, Kyphoscoliosis, Anteverted ears OMIM:615541
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Short stature, Kyphosis, Scoliosis, Abnormality of th... ORPHA:1858
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Macrotia, Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Narrow ... ORPHA:93950
Stickler Syndrome Type 1
Sensorineural hearing impairment, Long philtrum, Mitral valve prolapse, Hypoplasia of the maxilla... ORPHA:90653
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... OMIM:618300
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... ORPHA:401942
20P12.3 Microdeletion Syndrome
Long philtrum, Short stature, Microtia, Atrial septal defect, Hypoplasia of the maxilla, Narrow m... ORPHA:261295
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Short stature, Widely spaced teeth, Cataract, Attached earlobe, Malar flatte... OMIM:616108
Three M Syndrome 2
Hyperlordosis, Dental malocclusion, Short thorax, High palate, Long philtrum, Short stature, Dela... OMIM:612921
Atelosteogenesis, Type Iii
Horizontal sacrum, Rhizomelia, Micrognathia, Cervical kyphosis, Midface retrusion, Prominent occi... OMIM:108721
X-Linked Intellectual Disability, Porteous Type
Macrotia, Mandibular prognathia, Short stature, Short philtrum, Hypoplasia of the maxilla, Narrow... ORPHA:93945
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Short stature, Delayed eruptio... ORPHA:2863
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Aarskog-Scott Syndrome
Camptodactyly of finger, Umbilical hernia, Cleft upper lip, Megalocornea, Abnormality of the cerv... ORPHA:915
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Macrotia, Short stature, Micrognathia, Abnormal facial shape, Diastema, Shor... ORPHA:436245
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra... OMIM:231060
Auriculocondylar Syndrome 1
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:602483
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Short stature, Microtia, Underdevel... ORPHA:79113
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Abnormal vertebral... ORPHA:280195
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Abnormality ... ORPHA:1926
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Joubert Syndrome 18
Intrahepatic biliary atresia, Lobulated tongue, Ventricular septal defect, Molar tooth sign on MR... OMIM:614815
Dysostosis, Stanescu Type
Brachycephaly, Hyperlordosis, Flat face, Kyphosis, Short stature, Midface retrusion, Macroglossia... ORPHA:1798
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Short stature, Knee flexion contracture OMIM:259610
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Midface retrusion, Hypoplasia of the maxilla, Thin upper lip vermilion, S... OMIM:618737
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Short stature, Delayed eruption of teeth, Narrow chest, Posterior wed... ORPHA:50814
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Midface retrusion, Short stature, Abnormality of the dentition ORPHA:2776
Cardioacrofacial Dysplasia 1
Conical tooth, Atrioventricular canal defect, Genu valgum, Midface retrusion, Long thorax, Short ... OMIM:619142
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Delayed eruption of primary teeth, Glossoptosis, Microtia, Microgn... OMIM:616367
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Enlarged thorax, Abnormal pleura morphology, Cerebral corti... ORPHA:2570
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Ventricular ... ORPHA:1908
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Dysmetria, Vestibular areflexi... ORPHA:504476
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Sensorineural hearing impairment, Short stature, Disharmonious carpal bone, Long tho... OMIM:608154
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Flat face, Rieger anomaly, Sensorineural hearing impairment, Short stature, Abnorm... OMIM:109120
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Pericardial constriction, Hypoplastic frontal sinuses, Sh... OMIM:253250
Crouzon Syndrome
Brachycephaly, Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Tur... ORPHA:207
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre... OMIM:614779
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Narrow face, Long face, Short philtrum OMIM:300210
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Flat face, Sensorineural hearing impairment, Ulnar deviation of the wris... ORPHA:1529
Pycnodysostosis
Delayed cranial suture closure, Micrognathia, Midface retrusion, Frontal bossing, Disproportionat... ORPHA:763
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... OMIM:306955
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Split-Hand/Foot Malformation 3
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... OMIM:246560
Harrod Syndrome
Dental malocclusion, High palate, Kyphosis, Abnormal shoulder morphology, Narrow face, Long face,... ORPHA:2115
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function OMIM:616042
Frontonasal Dysplasia 1
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Hypoplasti... OMIM:136760
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Thoraco-Abdominal Enteric Duplication
Meningocele, Duodenal stenosis, Intestinal malrotation, Dextrocardia, Abnormal tricuspid valve mo... ORPHA:1759
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Molar tooth sign on MRI, Anencephaly, Hydr... OMIM:611134
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Macrotia, Mandibular prognathia, High palate, Abnormal cardiac septum morpho... ORPHA:3079
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Short thorax, Multiple pterygia OMIM:601809
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Conductive hearing impairment, Turricephaly, Abnormal sacrum morphology, Hypoplasi... ORPHA:93262
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Dental malocclusion, Macrodontia of permanent maxillary central incisor, Short sta... OMIM:257850
Potocki-Lupski Syndrome
Dental malocclusion, Patent foramen ovale, Mandibular prognathia, High palate, Short stature, Wid... OMIM:610883
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormal cardiac septum morphology, Opt... ORPHA:1590
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Larsen-Like Syndrome
Brachycephaly, Dental malocclusion, Flat face, Conductive hearing impairment, Joint dislocation, ... OMIM:608545
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Conductive hearing impairment, High palate, Pierre-Robin sequence, Prominent st... OMIM:617877
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Vertigo, Intention tr... ORPHA:101110
Carpenter Syndrome 1
Brachycephaly, Conductive hearing impairment, Lateral displacement of patellae, Micrognathia, Mid... OMIM:201000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Esophageal atresia, Hydrocephalus, Anal atresia, Pulmon... OMIM:314390
Coffin-Lowry Syndrome
Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion, Abnormal form of the ve... ORPHA:192
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Microdontia, Round face, Severe sensorineural hearing impairment, Proximal radio-ul... ORPHA:363417
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, High palate, Long face, Mild short stature OMIM:618292
Microphthalmia With Limb Anomalies
Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnormal form of the vertebral bo... ORPHA:1106
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Flat face, Congenital hip dislocation, Thin upper lip v... OMIM:619719
Rubinstein-Taybi Syndrome 2
Retrognathia, Talon cusp, Dental malocclusion, Narrow palate, High palate, Short stature, Microgn... OMIM:613684
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Short stature, Hypoplasia of the maxilla, Protruding ear ORPHA:85279
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:619702
Nance-Horan Syndrome
Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, Posterior Y-sutural catar... OMIM:302350
Otodental Syndrome
Delayed eruption of teeth, Pulp calcification, Taurodontia, Lens coloboma, Iris coloboma, Gingiva... ORPHA:2791
Weill-Marchesani Syndrome 1
Brachycephaly, Tooth malposition, Narrow palate, Ventricular septal defect, Short stature, Abnorm... OMIM:277600
Craniosynostosis 3
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Right unicoronal syno... OMIM:615314
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Micrognathia, Triangular face, Hypoplasia of the maxilla, Ankle swelling, Corneal... OMIM:166300
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Scl... OMIM:144750
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... ORPHA:199306
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
Crouzon Syndrome
Brachycephaly, Sagittal craniosynostosis, Conjunctivitis, Mandibular prognathia, Abnormality of t... OMIM:123500
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, High palate, Kyphosis, Micrognathia, Short neck, Low-set ears, Po... OMIM:618393
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... ORPHA:1209
Kagami-Ogata Syndrome
Retrognathia, Bell-shaped thorax, Ventricular septal defect, Long philtrum, Microtia, Micrognathi... OMIM:608149
Auriculocondylar Syndrome
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle... ORPHA:137888
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Midface retrusion, Hyperplasia o... OMIM:614753
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Macrotia, Cleft upper lip, Hypoplasia of the premaxilla... OMIM:610829
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Dental malocclusion, Scaphocephaly, Hypoplastic helices, Plagiocephaly, Bic... OMIM:619149
Maternal Uniparental Disomy Of Chromosome 9
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Facial asymme... ORPHA:96183
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Abnormal cardiac septum morphology, Abnormal heart... ORPHA:294975
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Pentalogy Of Cantrell
Abnormal pericardium morphology, Absent gallbladder, Abnormal sternum morphology, Encephalocele, ... ORPHA:1335
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Flat face, Irregular vertebral endplates, Mandibular prognathia, Broad face, Long ... ORPHA:439822
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Cerebellar cortical atrophy, Dysdiadochokinesis, Resting tremor, Ataxia, Abnormal ve... ORPHA:247234
Mosaic Trisomy 20
Retrognathia, Vertebral fusion, Ventricular septal defect, Kyphosis, Abnormal mitral valve morpho... ORPHA:1724
Noonan Syndrome 4
Dental malocclusion, Abnormal sternum morphology, Ventricular septal defect, Pectus excavatum of ... OMIM:610733
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Proportionate short st... ORPHA:79345
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla ORPHA:2975
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypoplastic left heart, Cleft... ORPHA:2476
Martsolf Syndrome 1
Brachycephaly, Cardiomyopathy, Talipes valgus, High palate, Long philtrum, Short stature, Tooth m... OMIM:212720
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatin... ORPHA:2790
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Narrow chest, Micrognathia, Short philtrum, Frontal bossin... ORPHA:93267
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Severe platyspondyly, Rhizomelia, Cupped ribs, Ovoid vertebral bodies, Scoli... OMIM:608940
Meier-Gorlin Syndrome 4
Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, Micrognathia, T... OMIM:613804
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Seckel Syndrome 1
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, ... OMIM:210600
Trichorhinophalangeal Syndrome, Type I
Hyperlordosis, Dental malocclusion, Macrotia, Narrow palate, Long philtrum, Short stature, Delaye... OMIM:190350
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Short stature, Subm... ORPHA:3426
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Abnormal facia... OMIM:608227
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Atrioventricular canal defect, Megalocornea, Developmental glaucoma, De... ORPHA:2409
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Cohen Syndrome
Micrognathia, Pectus excavatum, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, ... ORPHA:193
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Dextrocardia
Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Hydrocephalus, Abnormal lung... ORPHA:1666
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Midface retrusion... ORPHA:782
Craniolenticulosutural Dysplasia
Punctate cataract, Delayed closure of the anterior fontanelle, High palate, Long philtrum, Short ... OMIM:607812
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Situs inversus totalis, Dextrocardia, R... OMIM:615067
Cohen Syndrome
Genu valgum, Macrodontia of permanent maxillary central incisor, Short stature, Micrognathia, Mit... OMIM:216550
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Hyperopic astigmatism ORPHA:397973
Holoprosencephaly 7
Midface retrusion, Median cleft lip, Iris coloboma, Cleft palate, Cranial asymmetry, Flat face, H... OMIM:610828
Limb Body Wall Complex
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Iris coloboma, Cleft palat... ORPHA:2369
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Holoprosencephaly, Short neck, Hepatom... OMIM:269860
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Brachycephaly, Delayed cranial suture closure, Conductive hearing ... ORPHA:794
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Atri... ORPHA:89844
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Ayme-Gripp Syndrome
Brachycephaly, Delayed cranial suture closure, Midface retrusion, Pectus excavatum, Pericarditis,... OMIM:601088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Lissencephaly, Myocardial fibrosis, Holoprosencephaly, Type II lissencephaly, Poly... OMIM:253800
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Micrognathia, Pectus excavatum, Dislocated radial head, Lateral cl... OMIM:182212
Frontorhiny
Camptodactyly of finger, Cranium bifidum occultum, Encephalocele, Hypoplastic frontal sinuses, Bi... ORPHA:391474
Marshall Syndrome
Brachycephaly, Thick upper lip vermilion, Hypoplastic frontal sinuses, Micrognathia, Ectopia lent... ORPHA:560
Primary Ciliary Dyskinesia
Double outlet right ventricle, Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia... ORPHA:244
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Submucous cleft hard palat... ORPHA:178303
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Marden-Walker Syndrome
Abnormal sternum morphology, High palate, Long philtrum, Kyphosis, Joint contracture of the hand,... OMIM:248700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... OMIM:612350
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Microdontia, Hypodontia, Anterior chamber synechiae, Short philtrum, Micro... OMIM:601499
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Round face, Tooth agene... OMIM:618363
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Macrotia, High palate, Long philtrum, Abnormal facial shape, Hip dislocation, Increased laxity of... ORPHA:481152
Weill-Marchesani Syndrome 2
Brachycephaly, Elbow flexion contracture, Ectopia lentis, Iridodonesis, Proportionate short statu... OMIM:608328
Vacterl/Vater Association
Anorectal anomaly, Abnormality of the pancreas, Abnormal cardiac septum morphology, Abnormality o... ORPHA:887
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Delayed eruption of teeth, Selective tooth ag... OMIM:305620
Acrootoocular Syndrome
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Short statu... ORPHA:2980
Uruguay Faciocardiomusculoskeletal Syndrome
Retrognathia, Ventricular hypertrophy, Limited elbow movement, Kyphosis, Brachyturricephaly, Join... OMIM:300280
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Macrotia, High palate, Facial asymmetry, Hypoplasia of the maxilla, Long face, Sco... OMIM:218000
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Microcephaly, Cleft palate OMIM:601355
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Asplenia, Chiari malformation, Butterfly vertebrae, Posterior rib ... OMIM:265380
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Type II lissencephaly, Olivopontocerebellar hypoplasia, Lu... ORPHA:370959
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Pectus e... ORPHA:2462
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Short stature, Micr... ORPHA:1307
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Abnormal cardiac septum morphology, Hypoplasia of the premaxilla, Micrognathia, Na... ORPHA:2166
Meckel Syndrome, Type 10
Sacral dimple, Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anenceph... OMIM:614175
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Atrial septal defect, Scoliosis, Microcephaly, Tetralogy ... ORPHA:1913
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Turricephaly, Dolichocephaly, Hip dislocation, Thoracic kyphoscoliosis, Large fleshy ears, Severe... OMIM:203550
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, High palate, Short stature, Prominent frontal sinuses, Micrognathia, Oligodont... OMIM:170390
Cowden Syndrome 5
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... OMIM:615108
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Pursed l... OMIM:241310
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Hypoplasia ... OMIM:614261
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... ORPHA:1354
Van Maldergem Syndrome 1
Sacral dimple, Dental malocclusion, Irregular dentition, Conductive hearing impairment, Sensorine... OMIM:601390
Meier-Gorlin Syndrome 5
Small earlobe, Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, ... OMIM:613805
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Kyphosis, Deep philtrum, Micrognathia, Pectus excavatum, Cervical ribs, Incomplete... ORPHA:77300
Diprosopus
Cleft palate, Anencephaly, Abnormal cardiac septum morphology ORPHA:1681
22Q11.2 Duplication Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic... ORPHA:1727
Spondylocostal Dysostosis 4, Autosomal Recessive
Aplasia of posterior communicating artery, Ectopic anus, Pectus excavatum, Vertebral artery hypop... OMIM:613686
Pyle Disease
Thickened calvaria, Mandibular prognathia, Limited elbow extension, Genu valgum, Hypoplastic fron... OMIM:265900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Kyphosis, Short philtrum, Scoliosis, Prominent metopic ridge, Protruding e... ORPHA:85317
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Macrotia, Short stature, High, narrow palate, Dolichocephaly, Kyphoscoliosis, Cataract, Flat occi... ORPHA:3433
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Absent cupid's bow, Ri... OMIM:617616
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, ... OMIM:616331
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna... ORPHA:228396
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Abnormal cardiac septum morphology, Prominence of the premaxilla, Congen... ORPHA:2412
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Short stature, Micrognathia, Supern... ORPHA:3145
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Short stature, Radioulnar synostosis, Scol... ORPHA:3268
Kyphomelic Dysplasia
Flat face, Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, ... ORPHA:1801
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Long face OMIM:608931
Keipert Syndrome
Sensorineural hearing impairment, Short stature, Hypoplasia of the maxilla, Tented upper lip verm... ORPHA:2662
Craniotelencephalic Dysplasia
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... ORPHA:1528
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Dental malocclusion, Mandibular prognathia, Short stature, Delayed eruption of tee... OMIM:101800
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Pectus excavatum, Tetralog... ORPHA:261243
Aarskog-Scott Syndrome
Cleft upper lip, Short stature, Hypodontia, Hypoplasia of the odontoid process, Round face, Large... OMIM:305400
Andersen-Tawil Syndrome
Scaphocephaly, High palate, Short stature, Micrognathia, Abnormal facial shape, Oligodontia, Dent... ORPHA:37553
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Ventricular septal defect, Widely spaced teet... OMIM:618067
Ciliary Dyskinesia, Primary, 25
Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Recurrent pneum... OMIM:615482
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Anal atresia, Atrial sep... OMIM:220210
Acrodysostosis
Brachycephaly, Mandibular prognathia, Short stature, Delayed eruption of teeth, Spinal canal sten... ORPHA:950
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Cerebellar hypoplasia, Pulmonary hypoplasia, Hydranencephaly, Short ... OMIM:236500
Frank-Ter Haar Syndrome
Brachycephaly, Delayed cranial suture closure, Micrognathia, Secundum atrial septal defect, Pectu... OMIM:249420
Ck Syndrome
Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Dental crowding, Narrow face, L... OMIM:300831
Van Den Ende-Gupta Syndrome
Micrognathia, Elbow flexion contracture, Pectus excavatum, Dislocated radial head, Everted lower ... OMIM:600920
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Pectus excavatum, Long face, Sco... OMIM:617258
Neural Tube Defects, Susceptibility To
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... OMIM:182940
Nasopalpebral Lipoma-Coloboma Syndrome
Dolichocephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cataract, Co... ORPHA:2399
Muenke Syndrome
Brachycephaly, Dental malocclusion, Sensorineural hearing impairment, Plagiocephaly, Capitate-ham... OMIM:602849
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Cerebellar hypoplasia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia... ORPHA:3240
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, Abnormal facial sh... ORPHA:261197
Jackson-Weiss Syndrome
Mandibular prognathia, Turricephaly, Midface retrusion, Frontal bossing, Hypoplasia of the maxill... ORPHA:1540
Cowden Syndrome 6
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... OMIM:615109
Constricting Bands, Congenital
Cleft upper lip, Encephalocele, Ectopia cordis, Abnormal rib cage morphology, Scoliosis, Cleft pa... OMIM:217100
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Mohr Syndrome
Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Short stature, Tongue... OMIM:252100
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Conductive hearing impairment, Short stature, Coronal craniosynostosis, Oligodonti... ORPHA:2095
Hallermann-Streiff Syndrome
Brachycephaly, Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermil... OMIM:234100
Nager Syndrome
Non-midline cleft lip, Wide mouth, Microtia, Micrognathia, Hypoplasia of the maxilla, Abnormal pa... ORPHA:245
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Kyphosis, Pectus excavatum, Disproportionate short-limb short stature,... OMIM:259440
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Macrotia, Long philtrum, Wide mouth, Micrognathia, Abnormal facial shape, Hip dislo... ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Abnormally folded helix, Den... OMIM:309520
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... ORPHA:185
Spondyloepiphyseal Dysplasia, Stanescu Type
Short stature, Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Tri... OMIM:616583
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eru... OMIM:259600
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:611884
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, Hyperlordosis, Brachycephaly, High palate, Furrowed tongue, Short ... ORPHA:1387
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Sensorineural hearing impairment, Short stature, Wide mouth, Thick lower lip... ORPHA:85321
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Molar tooth sign on MRI, Short ribs, Anencephaly, Hydrocephalus, Polymicrogyri... OMIM:616546
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Brachycephaly, Long philtrum, Kyphosis, Micrognathia, Dental crowdi... OMIM:615761
Momo Syndrome
Brachycephaly, Dental malocclusion, Short sternum, High palate, Long philtrum, Delayed eruption o... OMIM:157980
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:614679
Grant Syndrome
Brachycephaly, Flat face, Joint dislocation, Short stature, Narrow chest, Micrognathia, Facial as... ORPHA:2097
Mucopolysaccharidosis Type 4
Grayish enamel, Short neck, Abnormal rib morphology, Hearing impairment, Abnormal dental enamel m... ORPHA:582
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... OMIM:218670
Nasopalpebral Lipoma-Coloboma Syndrome
Dolichocephaly, Hypoplasia of the maxilla, Low-set ears, Cupped ear, Conjunctival hyperemia OMIM:167730
Heterotaxy, Visceral, 2, Autosomal
Atrioventricular canal defect, Double outlet right ventricle, Transposition of the great arteries... OMIM:605376
Cleidocranial Dysplasia 2
Genu valgum, Plagiocephaly, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossific... OMIM:620099
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, High palate, Wide mouth, Micrognathia, Thickened ears, Bifid uv... ORPHA:3473
Treacher-Collins Syndrome
Brachycephaly, Conductive hearing impairment, Micrognathia, Midface retrusion, Iris coloboma, Too... ORPHA:861
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Wide mouth, Microtia, Narrow chest, Micrognathia, Frontal b... ORPHA:1703
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Mandibular prognathia, Plagiocephaly, Long philtrum, Megalocornea, Dolic... ORPHA:1101
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... OMIM:608978
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Dental malocclusion, Flat face, Plagiocephaly, Wide mouth, Widely spaced teeth... OMIM:619293
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Malar prominence,... ORPHA:2522
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Hypoplastic helices, Myelomeningocele, High palate, Prominent antitragus... ORPHA:2437
Mucopolysaccharidosis, Type Iva
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Disproportionate short-trunk... OMIM:253000
Van Maldergem Syndrome 2
Hip subluxation, Irregular dentition, Conductive hearing impairment, Micrognathia, Midface retrus... OMIM:615546
Distal Trisomy 5Q
Flat face, Macrotia, Ventricular septal defect, Short stature, Long philtrum, Micrognathia, Dextr... ORPHA:96097
Myhre Syndrome
Mandibular prognathia, Abnormal cardiac septum morphology, Gingival cleft, Abnormal lip morpholog... ORPHA:2588
Microhydranencephaly
Hypoplasia of the brainstem, Short stature, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... OMIM:605013
Apert Syndrome
Morphological abnormality of the semicircular canal, Flat face, Mandibular prognathia, Conductive... ORPHA:87
Angelman Syndrome
Brachycephaly, Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia o... OMIM:105830
Cri-Du-Chat Syndrome
High palate, Thick lower lip vermilion, Bifid uvula, Short philtrum, Round face, Microretrognathi... OMIM:123450
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum OMIM:614120
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu... OMIM:270100
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Kyphosis, Delayed eruption of teeth, Coarse facia... ORPHA:137834
Kabuki Syndrome 2
Dental malocclusion, Atrioventricular canal defect, Macrotia, High palate, Lower lip pit, Natal t... OMIM:300867
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Short face, Hypop... ORPHA:99772
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Enlarged tho... ORPHA:251071
Velocardiofacial Syndrome
Pierre-Robin sequence, Ventricular septal defect, Short stature, Interrupted aortic arch, Velopha... OMIM:192430
Cerebellofaciodental Syndrome
Dental malocclusion, Genu valgum, Macrodontia of permanent maxillary central incisor, Ventricular... OMIM:616202
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Kyphosis, Wide mouth, Coarse facial features, Short philtrum, Everted lowe... ORPHA:2429
Recombinant Chromosome 8 Syndrome
Brachycephaly, Micrognathia, Midface retrusion, Pectus excavatum, Gingival overgrowth, Hearing im... OMIM:179613
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Mandibular prognathia, Periodontitis, ... OMIM:231070
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ve... ORPHA:3384
Achard Syndrome
Brachycephaly, Micrognathia, Broad skull OMIM:100700
Meier-Gorlin Syndrome 1
Micrognathia, Osteochondritis dissecans, Microdontia, Elbow dislocation, Absent sternal ossificat... OMIM:224690
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten... OMIM:600001
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Macrotia, Anotia, Microtia, Short stature, Micrognathia, Midface retrusion, Acetabu... OMIM:616462
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Encephalocele, High palate, Short stature, Anencephaly, Pyloric stenosi... OMIM:619148
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, High palate, Short stature, Microtia, Short lingual frenulum, Thick lower l... ORPHA:293939
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Micrognathia, Recurrent sinusitis, Pectus excavatum, Short neck, Beaking of verteb... OMIM:213980
Meckel Syndrome, Type 1
Asplenia, Chiari malformation, Abnormal cardiac septum morphology, Malformation of the hepatic du... OMIM:249000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno... ORPHA:2255
Mosaic Trisomy 9
Camptodactyly of finger, Micrognathia, Biparietal narrowing, Hip dislocation, Prominent occiput, ... ORPHA:99776
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Anterior clefting of vertebral bodies, Micrognathia... OMIM:265000
Slc35A2-Cdg
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Lateral ... ORPHA:356961
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed closure of the anterior fontanelle, Macrotia, Kyphosis, Delayed eruption of teeth, Widely... OMIM:619797
Momo Syndrome
Brachycephaly, Dental malocclusion, Short sternum, Thick upper lip vermilion, High palate, Long p... ORPHA:2563
Short Syndrome
Dental malocclusion, Macrotia, Sensorineural hearing impairment, Megalocornea, Birth length less ... OMIM:269880
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Butterfly vertebrae, Hyperplas... ORPHA:313892
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, Global brain atrophy, Ventricular septal defect, Interrupted aortic arch... OMIM:616920
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Gingi... ORPHA:97360
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Abnormal cranial nerve morphology, Spina bifida, Anal at... ORPHA:2345
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Short stature, Micrognathia... ORPHA:48431
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Kyphosis, Micrognathia, Delayed puberty, Scoliosis ORPHA:2598
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Deep philtrum, Prominence of the premaxilla, Round face, Everted lower lip vermili... OMIM:137550
Usher Syndrome
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Abnormal vestibular funct... ORPHA:886
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Brachycephaly, High palate, Short stature, Microcornea, Cataract, Narrow mouth, Gro... ORPHA:2528
Premature Aging Syndrome, Penttinen Type
Retrognathia, Delayed cranial suture closure, Sensorineural hearing impairment, Delayed eruption ... OMIM:601812
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Dental crowding, Hyperplasia of the maxilla, Open bite OMIM:613671
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Stillbirth, Agenesis of corpus callosum OMIM:300073
Sclerosteosis 1
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Broad... OMIM:269500
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick upper lip vermilion, Mandibular prognathia, Wide mouth, Thick lower lip verm... OMIM:309545
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, High palate, Abnormality of the elbow, Short stature, Micrognathia, Abnor... ORPHA:93359
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Hepatomegaly, Abnormal cortical gyration, Esophageal atresia, Agenesis of cor... ORPHA:2538
Meier-Gorlin Syndrome 3
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Birth length less than 3rd perce... OMIM:613803
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Short stature, Abnormal vertebral morphology, Pectus excavatum, Cerebral... ORPHA:166024
Orofaciodigital Syndrome Vi
11 pairs of ribs, Lobulated tongue, High palate, Molar tooth sign on MRI, Short stature, Tongue n... OMIM:277170
Oliver Syndrome
Small earlobe, Dental malocclusion, Camptodactyly of finger, Mandibular prognathia, Knee flexion ... ORPHA:2920
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrotia, Mandibular prognathia, Furrowed tongue, Short stature, High palate, Micrognathia, Diast... OMIM:300534
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Micrognathia, Severe short stature, Abnormal palate morp... ORPHA:2617
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Friedreich Ataxia
Gait ataxia, Chorea, Impaired visually enhanced vestibulo-ocular reflex, Limb ataxia, Intention t... ORPHA:95
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Microretrognathia, Abnormal clavicle morphology, Abnormal rib morpho... ORPHA:276422
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho... ORPHA:40
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Conjunctivitis, Cleft upper lip, Conductive hearing impairment, Ventricular septal... OMIM:106260
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Situs inversus totalis, Dextrocard... OMIM:616037
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, Cleft palate, Postnat... ORPHA:251028
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair... OMIM:300373
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Macrotia, Wide mouth, Micrognathia, Triangular face, Thin upper lip vermilion, Sco... OMIM:615419
Intermediate Osteopetrosis
Dental malocclusion, Back pain, Abnormality of dental morphology, Osteosclerosis of the base of t... ORPHA:210110
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Cleidocranial Dysplasia
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... ORPHA:1452
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachycephaly, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Round face, Prominent ... OMIM:612474
3M Syndrome
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Midface retrusion, Everted lower lip... ORPHA:2616
Diastrophic Dysplasia
Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Midface retrusion, Intrauteri... ORPHA:628
Spinocerebellar Ataxia Type 12
Tremor by anatomical site, Abnormal cerebellum morphology, Postural tremor, Ataxia, Action tremor... ORPHA:98762
Hydrocephalus, Congenital, 3, With Brain Anomalies
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... OMIM:617967
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Gastroesophageal r... OMIM:618316
Cowden Syndrome 1
High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Cataract, Narro... OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Protruding ear, Scoliosis, Kyphosis OMIM:300861
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... ORPHA:2789
Thakker-Donnai Syndrome
Ventricular septal defect, Rectovaginal fistula, Communicating hydrocephalus, Anal atresia, Trach... ORPHA:1780
Branchioskeletogenital Syndrome
Brachycephaly, Bifid uvula, Pectus excavatum, Short neck, Flat face, Abnormality of the vertebral... ORPHA:1299
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Short stature, Growth delay, Carious teeth, ... OMIM:147770
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Kyphosis, Short stature, Wide mouth, Micrognathia, Deep philtrum, Short philtrum, ... OMIM:615834
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Double outlet right ventricle, Short stature, Short lingual frenulum, Dilated... ORPHA:2326
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Kyphosis, Short stature, Delayed ossification of carpal bones, Cataract, Pectus carinat... OMIM:618392
Stickler Syndrome
Micrognathia, Midface retrusion, Hip dislocation, Ectopia lentis, Tooth agenesis, Cleft palate, H... ORPHA:828
Marden-Walker Syndrome
Camptodactyly of finger, Micrognathia, Bifid uvula, Pectus excavatum, Cleft palate, Posteriorly r... ORPHA:2461
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Abnormal ... ORPHA:300570
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Primary Pulmonary Hypoplasia
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Cleft palate, Re... ORPHA:2257
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly, Intrauterine growth retardation ORPHA:293
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, E... ORPHA:2554
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Kyphosis, Joint contracture of the hand, Short stature, Micrognathia, Abnormal faci... ORPHA:352490
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Bilateral lung agenesis,... OMIM:601186
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Thick lower lip vermilion, Intrauteri... OMIM:234250
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly, Dental malocclusion, Vertebral fusion, Narrow palate, High palate, Wide mouth, Mic... OMIM:227330
Coffin-Siris Syndrome 6
Retrognathia, Conductive hearing impairment, Plagiocephaly, Short stature, Deep philtrum, Coarse ... OMIM:617808
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Par... OMIM:617478
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Kyphosis, Mitral valve prolapse, Lens subluxation, Situs inversus totalis,... OMIM:609008
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Infancy onset short-trunk short stature, Macrodontia of permanent maxillary ... ORPHA:444072
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Renpenning Syndrome
Macrotia, Sensorineural hearing impairment, Mandibular prognathia, Round ear, Macrodontia, Short ... ORPHA:3242
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar d... ORPHA:2916
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Mandibular prognathia, Conductive hearing impairment, Kyphosis, Ap... ORPHA:3082
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Severe short stature, Delayed eruption of permanent teeth, Scoliosis... OMIM:112350
Cerebrocostomandibular Syndrome
Meningocele, Bell-shaped thorax, Myelomeningocele, Ventricular septal defect, Kyphosis, Short sta... ORPHA:1393
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Midface retrusi... OMIM:215140
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Recurrent pneumonia, Situs inversus totalis, Heterotaxy, Recu... OMIM:613807
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Biconcave vertebral bodies, Protrusio acetabuli, Kyphosis, Micrognathi... OMIM:259420
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Flat face, Macrotia, Long philtrum, Aplas... ORPHA:1968
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Hearing impairment, Scoliosis, Kyphosis OMIM:617087
Elsahy-Waters Syndrome
Brachycephaly, Delayed eruption of teeth, Bifid uvula, Midface retrusion, Pectus excavatum, Poste... OMIM:211380
Robinow Syndrome, Autosomal Dominant 3
Bifid tongue, Micrognathia, Midface retrusion, Short neck, Cleft palate, Gingival overgrowth, Hea... OMIM:616894
Alexander Disease Type I
Hydrocephalus, Rosenthal fibers, Abnormal cerebral white matter morphology, Focal T2 hyperintense... ORPHA:363717
Short Rib-Polydactyly Syndrome
Horizontal ribs, Absent or minimally ossified vertebral bodies, Hepatic fibrosis, Thoracic hypopl... ORPHA:1505
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, High palate, Limited elbow movement, Abnormal facial shape, Triangular face, Flat o... ORPHA:319171
Distal Monosomy 19P13.3
Umbilical hernia, Pulmonary valve atresia, Conductive hearing impairment, Sensorineural hearing i... ORPHA:96129
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria... ORPHA:99050
Hajdu-Cheney Syndrome
Conductive hearing impairment, Micrognathia, Dislocated radial head, Iris coloboma, Short neck, T... OMIM:102500
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Delayed closure of the anterior fontanelle, Limited elbow movement, Short st... OMIM:614008
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, Abnormal mitr... ORPHA:1131
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Macrotia, Mandibular prognathia, Facial asymmetry, Triangular face, Overriding aorta,... ORPHA:1110
Schwartz-Jampel Syndrome
Wrist flexion contracture, Micrognathia, Elbow dislocation, Pectus excavatum, Everted lower lip v... ORPHA:800
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
3P25.3 Microdeletion Syndrome
Sacral dimple, Patent ductus arteriosus, Abnormality of thalamus morphology, Ventricular septal d... ORPHA:435638
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Conductive hearing impairment, Anotia, Joint contracture of the hand, Microg... OMIM:608257
Basilar Impression, Primary
Craniofacial asymmetry, Abnormal cervical myelogram, Platybasia, Kyphoscoliosis, Short neck OMIM:109500
Poland Syndrome
Short ribs, Dextrocardia, Rib fusion, Sprengel anomaly, Hemivertebrae OMIM:173800
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot, Encephalocele ORPHA:217
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Turricephaly, Kyphosis, Short stature, Coronal craniosyno... OMIM:616294
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Dental malocclusion, Microretrognathia, Down-sloping shoulders, Scapular winging,... OMIM:615560
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Pectus excavatum, Scoliosis, Cerebral cavern... OMIM:619910
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, High palate, Kyphosis, Micrognathia, Short neck, Scoliosis, Low-set ears OMIM:611890
Congenital Disorder Of Glycosylation, Type Iik
Short stature, Midface retrusion, Kyphoscoliosis, Growth delay, Amelogenesis imperfecta, Malar fl... OMIM:614727
Pseudotrisomy 13 Syndrome
Cleft upper lip, Encephalocele, Ventricular septal defect, Hydrocephalus, Anal atresia, Median cl... OMIM:264480
Cach Syndrome
Cerebellar vermis atrophy, Lateral ventricle dilatation, Optic atrophy, T2 hypointense thalamus, ... ORPHA:135
Catel-Manzke Syndrome
Ventricular septal defect, Short stature, Oral synechia, Atrial septal defect, Cleft palate, Glos... ORPHA:1388
Trisomy 9P
Sacral dimple, Brachycephaly, Non-midline cleft lip, Macrotia, Abnormal pupil morphology, Kyphosi... ORPHA:236
Takenouchi-Kosaki Syndrome
Dental malocclusion, Abnormal sternum morphology, Sensorineural hearing impairment, Long philtrum... OMIM:616737
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Mi... OMIM:277720
Fryns Syndrome
Thoracic hypoplasia, Pulmonary hypoplasia, Short neck, Hypoplasia of the optic tract, Cleft palat... OMIM:229850
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, High palate, Sprengel anomaly, Scoliosis, Abnormal rib morphology, Low-set... ORPHA:2180
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Short stature, Coarse facial features, Craniofacial hyperostosis, ... ORPHA:1513
Myhre Syndrome
Pericardial effusion, Midface retrusion, Short neck, Cleft palate, Hearing impairment, Vertebral ... OMIM:139210
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Short stature, Selective tooth agenesis, Micrognathia, Hypodontia, Bifid uvu... ORPHA:2959
Pelvis-Shoulder Dysplasia
Bell-shaped thorax, Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocepha... ORPHA:2839
Turnpenny-Fry Syndrome
Brachycephaly, Conductive hearing impairment, Plagiocephaly, Microdontia, Pectus excavatum, Hypop... OMIM:618371
Pfeiffer Syndrome
Mandibular prognathia, High palate, Brachyturricephaly, Humeroradial synostosis, Coronal craniosy... OMIM:101600
Three M Syndrome 1
Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Scapular winging, Postnatal ... OMIM:273750
3Mc Syndrome 2
Cleft upper lip, Skull asymmetry, High palate, Limited elbow movement, Caudal appendage, Prominen... OMIM:265050
Autosomal Recessive Stickler Syndrome
Flat face, Irregular vertebral endplates, Sensorineural hearing impairment, Genu valgum, Short st... ORPHA:250984
Cardiofaciocutaneous Syndrome 1
Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Hearing impairment, Post... OMIM:115150
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Dental malocclusion, Thick upper lip vermilion, Perimembranous ventricular septal d... ORPHA:363444
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Kyphosis, Vascular ring, Thick corpus callosum, Hydrocephalus, Atrial ... OMIM:603387
Nablus Mask-Like Facial Syndrome
Retrognathia, Small earlobe, High palate, Long philtrum, Joint contracture of the hand, Frontal b... OMIM:608156
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Dextrocardia, Re... OMIM:615444
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... OMIM:616898
Ehlers-Danlos Syndrome, Classic Type, 1
Narrow maxilla, Joint dislocation, Short stature, Mitral valve prolapse, Lop ear, Recurrent sinus... OMIM:130000
Severe Oculo-Renal-Cerebellar Syndrome
Macrotia, Mandibular prognathia, Short stature, Wide mouth, Malar prominence, Large earlobe, Narr... ORPHA:2715
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Short stature, Interru... ORPHA:250989
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Micrognathia, Hip dislocation, Iris coloboma, Abnormal sternal oss... OMIM:194190
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Dental malocclusion, Microdontia, Hemifacial hypoplasia, Oligod... OMIM:618727
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Oligodontia, Anodontia, Pectus excavatum, Frontal bossing, Everted lower... ORPHA:276630
Saethre-Chotzen Syndrome
Brachycephaly, Delayed cranial suture closure, Skull asymmetry, Plagiocephaly, Buphthalmos, Cleft... OMIM:101400
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Sensorineural hearing impairment, Rhizomelia, Micrognathia, Developmental cataract, Fr... OMIM:215100
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, High palate, Deep philtrum, Abnormal facial shape, Micrognathia, Thin upper ... ORPHA:329178
Alg3-Cdg
Subcortical cerebral atrophy, High palate, Abnormal uvula morphology, Abnormal cerebral morpholog... ORPHA:79321
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:606763
7Q11.23 Microduplication Syndrome
Brachycephaly, Short lingual frenulum, Micrognathia, Round face, Pectus excavatum, Short neck, He... ORPHA:96121
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Thoracic hypoplasia, Lateral ventricle dilatation, Recurren... ORPHA:397715
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Chiari malformation, Porencephalic cyst, Atrial septal defect, Microcep... ORPHA:254351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Kyphosis, Short stature, Micrognathia, Synostosis of carpal bones, M... ORPHA:3191
Hamamy Syndrome
Brachycephaly, Enamel hypoplasia, Dental malocclusion, Neck pterygia, Sensorineural hearing impai... OMIM:611174
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, Hyperlordosis, Dolichocephaly, Triangular face, Severe short stature, Scoliosis, In... OMIM:617352
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thal... OMIM:617542
Congenital Tracheomalacia
Patent ductus arteriosus, Gastroesophageal reflux, Pneumothorax, Ventricular septal defect, Bronc... ORPHA:95430
Catel-Manzke Syndrome
Micrognathia, Bifid uvula, Pectus excavatum, Short neck, Cleft palate, Glossoptosis, Postnatal gr... OMIM:616145
Meacham Syndrome
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... ORPHA:3097
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Micrognathia, Butterfly vertebrae, Hip d... ORPHA:958
Cerebrofacioarticular Syndrome
Irregular dentition, Conductive hearing impairment, Short stature, Microtia, Micrognathia, Caudal... ORPHA:314679
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Retrognathia, Dental malocclusion, Phakodonesis, High palate, Bifid uvula, Anterior synechiae of ... OMIM:601552
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation, Hyd... OMIM:225790
Cole-Carpenter Syndrome
Turricephaly, Kyphosis, Delayed eruption of teeth, Short stature, Micrognathia, Midface retrusion... ORPHA:2050
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal cardiac septum morphology, Delayed eruptio... ORPHA:2484
Osteogenesis Imperfecta, Type Xx
Retrognathia, Brachycephaly, Mandibular prognathia, Plagiocephaly, Narrow palate, High palate, Cr... OMIM:618644
22Q11.2 Deletion Syndrome
Meningocele, Hypoplasia of the thymus, Truncus arteriosus, Optic atrophy, Abnormal thorax morphol... ORPHA:567
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Brachycephaly, Turricephaly, Short stature, Microtia, Micrognathia... ORPHA:2145
Metatropic Dysplasia
Camptodactyly of finger, Kyphosis, Narrow chest, Long thorax, Severe short stature, Abnormal inte... ORPHA:2635
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Optic atrophy, Severe short stature, Focal T2 hyperintense thalamic lesion,... OMIM:619057
Charge Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Optic atrophy, Anterior hypopituitarism... ORPHA:138
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Caudal Regression Syndrome
Chiari malformation, Arrhinencephaly, Missing ribs, Anal atresia, Pulmonary hypoplasia, Hypoplast... ORPHA:3027
Achondrogenesis Type 1B
Flat face, Short thorax, Long philtrum, Narrow chest, Micrognathia, Frontal bossing, Disproportio... ORPHA:93298
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Delayed cranial suture closure, Conductive hearing impairment, Delayed eruption of... ORPHA:2780
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Delayed closure of the anterior fontanelle, Scaphocephaly, Short s... OMIM:614886
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Microcephaly, ... ORPHA:63862
Cooper-Jabs Syndrome
Brachycephaly, Camptodactyly of finger, Conductive hearing impairment, Ventricular septal defect,... ORPHA:1488
Atkin-Flaitz Syndrome
Genu valgum, Kyphosis, Short stature, Coarse facial features, Exaggerated median tongue furrow, P... OMIM:300431
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... ORPHA:289
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow palate, Ventricular septal defect, Chiari malfo... ORPHA:3380
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Natal tooth, Short stature, Absent p... OMIM:269300
Zttk Syndrome
Bifid uvula, Midface retrusion, Cervical ribs, Thin vermilion border, Ventricular septal defect, ... OMIM:617140
Goldberg-Shprintzen Syndrome
Megalocornea, Ventricular septal defect, Corneal erosion, Oligodontia, Short philtrum, Hypoplasia... OMIM:609460
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... OMIM:271530
Pfeiffer Syndrome
Hyperlordosis, Flat face, Mandibular prognathia, High palate, Turricephaly, Short stature, Synost... ORPHA:710
Stickler Syndrome, Type I
Conductive hearing impairment, Micrognathia, Bifid uvula, Midface retrusion, Pectus excavatum, Be... OMIM:108300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Vertebral segmentation def... ORPHA:1120
Craniosynostosis And Dental Anomalies
Brachycephaly, Stapes ankylosis, Conductive hearing impairment, Delayed eruption of teeth, Midfac... OMIM:614188
Kyphoscoliotic Ehlers-Danlos Syndrome
Shoulder dislocation, Conductive hearing impairment, Micrognathia, Hip dislocation, Pectus excava... ORPHA:536545
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, High palate, Cerebral cortical atrophy, Cerebellar hypoplasia, Simpl... OMIM:619072
Split Lower Lip
Narrow maxilla, Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition OMIM:183400
Congenital Myopathy 13
Brachycephaly, Conductive hearing impairment, High palate, Short stature, Micrognathia, Midface r... OMIM:255995
Femoral-Facial Syndrome
Long philtrum, Short stature, Microtia, Vertebral segmentation defect, Micrognathia, Radioulnar s... ORPHA:1988
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, High palate, Abnormality of the elbow, Kyphosis, Rhizomelia, Short statu... ORPHA:3098
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Short stature, Cerebella... OMIM:300712
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Ventricular septal defect, Pulmonary artery atresia, Short ... OMIM:612946
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Coarctation of aorta, Hypoplast... ORPHA:2876
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Macrotia, Patellar hypoplasia, Micrognathia, Scoliosis, Protruding ear OMIM:251240
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Bile duct proliferation, Cleft p... OMIM:603194
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Kyphosis OMIM:611225
Oculoskeletodental Syndrome
Hyperlordosis, Abnormality of thalamus morphology, Short stature, Thoracic kyphosis, Scoliosis, F... ORPHA:557003
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Brachyturricephaly, Delay... OMIM:613849
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Ovoid vertebral bodies, Disproportionate short-trunk short stature, Hearing impai... OMIM:253010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Plagiocephaly, Thoracic hypoplasia, Micrognathia, Pectus excavatum, Hypertroph... ORPHA:96334
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Severe short stature, Short neck, Scoliosis OMIM:168400
Myofibrillar Myopathy 10
Knee flexion contracture, Mandibular prognathia, Kyphosis, Elbow flexion contracture, Left ventri... OMIM:619040
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... ORPHA:1457
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Short stature, Micrognathia, Short neck, Low-set, posteriorly rotated e... ORPHA:1486
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1