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Gene: Zic3 MGI:106676

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... 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
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspon... OMIM:601216
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Short stature, Micrognathia, Pectus exc... ORPHA:2471
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Corneal dystrophy, Abnormal o... ORPHA:2673
Lujan-Fryns Syndrome
Narrow face, Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, P... ORPHA:776
Primary Condylar Hyperplasia
Abnormality of the temporomandibular joint, Macrodontia, Abnormal mandible condylar process morph... ORPHA:477781
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Round face, Posteriorly rotated ears, Dental crowding, Micro... OMIM:614669
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Narrow face, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Pectus... OMIM:300676
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... OMIM:614575
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Narrow face, Brachycephaly, Abnormal form of the vertebr... ORPHA:1327
Spinocerebellar Ataxia 6
Cerebellar atrophy, Ataxia, Vertigo, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia, Ab... OMIM:183086
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Hemifacial at... OMIM:141300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of t... OMIM:156510
Maxillonasal Dysplasia, Binder Type
Large earlobe, Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion OMIM:155050
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To... ORPHA:1248
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Coarse facial features, Cataract, Corneal opaci... ORPHA:61
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Kyphoscoliosis, Anteverted ears, Dental malocclusion, Macrotia OMIM:615541
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right... OMIM:618300
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Narrow face, Short stature, Hypoplasia of the maxilla, Brachycephaly, Macr... ORPHA:93950
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft pala... ORPHA:90653
20P12.3 Microdeletion Syndrome
Short stature, Thickened helices, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Micr... ORPHA:261295
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Narrow face, Short stature, Hypoplasia of the maxilla, Cupped ear, Short p... ORPHA:93945
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Cataract, Short stature, Dental malocclusion, Widely spaced teeth, Malar flatte... OMIM:616108
Three M Syndrome 2
Delayed eruption of teeth, Frontal bossing, Scapular winging, Lumbar hyperlordosis, Short stature... OMIM:612921
Atelosteogenesis, Type Iii
Frontal bossing, Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Short neck, Hypopla... OMIM:108721
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Dextrocardia, Abnormality of the philtrum, Micrognathia... ORPHA:2863
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Round face, Short stature, Genu rec... ORPHA:915
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Short stature, Micrognathia, Short neck, Diastema, Dental malocclusion, Abnorma... ORPHA:436245
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Round face, Posteriorly rotated ears, Dental crowding, Micro... OMIM:602483
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Acce... ORPHA:79113
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Short stature, Mi... ORPHA:1908
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Diabetic Embryopathy
Ventricular septal defect, Microcephaly, Abnormality of the pancreas, Hydrocephalus, Abnormal sac... ORPHA:1926
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Rhombencephalosynapsis, Mic... ORPHA:280195
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Frontal bossing, Short stature, Hypoplasia of the maxilla, Carious tee... ORPHA:50814
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Midface retrusion, Smooth ph... OMIM:618737
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cereb... ORPHA:504476
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... OMIM:619142
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Short stature, Abnormal dental enamel morphology, Short neck... ORPHA:1798
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature, Midface retrusion, Abnormality of the dentition ORPHA:2776
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Short neck, Microcephaly, Aplas... ORPHA:2570
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Hypoplasia of the maxilla, Cubitus valgus, Sensorineural hearing impairment, Genu ... OMIM:608154
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Dental crowding, Trigonocephaly, Micrognathia, Dental maloc... OMIM:610883
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Se... OMIM:109120
Mulibrey Nanism
Frontal bossing, Triangular face, Short stature, Corneal dystrophy, Dental crowding, Cardiomegaly... OMIM:253250
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha... ORPHA:207
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Intellectual Developmental Disorder, X-Linked 58
Narrow face, Dental malocclusion, Short philtrum, Long face OMIM:300210
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Craniofacial-Deafness-Hand Syndrome
Narrow face, Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Se... ORPHA:1529
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Harrod Syndrome
Narrow face, Cataract, Kyphosis, Dental malocclusion, Protruding ear, Abnormal shoulder morpholog... ORPHA:2115
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr... ORPHA:763
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Frontonasal Dysplasia 1
Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basa... OMIM:136760
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... ORPHA:1759
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... ORPHA:3079
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Short thorax, Multiple pterygia, Micrognathia OMIM:601809
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha... ORPHA:93262
Larsen-Like Syndrome
Joint dislocation, Frontal bossing, Short stature, Kyphoscoliosis, Dental malocclusion, Brachycep... OMIM:608545
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Posteriorly rotated ears, Short stature, Dental crowd... OMIM:617877
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Dental malocclusion, ... OMIM:619719
Distal Deletion 13Q
Encephalocele, Short stature, Microcephaly, Anencephaly, Optic atrophy, Abnormal form of the vert... ORPHA:1590
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Vertigo... ORPHA:101110
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear, High palate ORPHA:85279
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Dental malocclusion, High palate, Mild short stature, Long face OMIM:618292
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Brachycephaly, Microcornea, High palate, Atr... OMIM:201000
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Rubinstein-Taybi Syndrome 2
Posteriorly rotated ears, Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... ORPHA:192
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Frontal bossing, Wide cranial sutures, Bicuspid aortic valve, Scaphocep... OMIM:619149
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Hypoplasia of the premaxilla, ... ORPHA:1106
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Pectus excavatum, Gingival ove... OMIM:614753
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... OMIM:314390
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Cataract, Short stature, Dental... OMIM:257850
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... OMIM:619702
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Nance-Horan Syndrome
Narrow face, Diastema, Developmental cataract, Microcornea, Screwdriver-shaped incisors, Mulberry... OMIM:302350
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Carpal ... OMIM:166300
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis... OMIM:610829
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... OMIM:123500
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Short neck, Micrognathia, Kyphosis, High palate, Low-... OMIM:618393
Otodental Syndrome
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Long f... ORPHA:2791
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Micrognathia, Facial asymmetry, Patellar dislocation, Low-set ears, I... ORPHA:96183
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Cata... OMIM:277600
Short-Rib Thoracic Dysplasia 12
Short neck, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Neonatal death... OMIM:269860
Kagami-Ogata Syndrome
Frontal bossing, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypopla... OMIM:608149
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Torus palatinus,... OMIM:144750
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Clef... ORPHA:1724
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Stillbirth, Abnormal cardiac s... ORPHA:294975
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Cerebellar cortical atrophy, Abnormal ve... ORPHA:247234
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Coarse facial features, Posteri... ORPHA:439822
Noonan Syndrome 4
Atrial septal defect, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Ventricular... OMIM:610733
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
Vacterl/Vater Association
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormality of the pancreas, Ab... ORPHA:887
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Short stature, Cataract, Micr... OMIM:212720
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... OMIM:619657
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... ORPHA:2790
Seckel Syndrome 1
11 pairs of ribs, Abnormal pinna morphology, Dental crowding, Proportionate short stature, Microg... OMIM:210600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Frontal bossing, Cataract, Ventricular septal defect, Rhizomelia, C... ORPHA:93267
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism, Crowded maxillary incisors ORPHA:397973
Lowry-Maclean Syndrome
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... ORPHA:2409
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Cataract, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Wide... OMIM:608227
Meier-Gorlin Syndrome 4
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, T... OMIM:613804
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... ORPHA:3426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Dental malocclusio... OMIM:608940
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Scapular winging, Short stature, Micrognathi... OMIM:190350
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Growth delay, E... ORPHA:782
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Iris coloboma, Shor... ORPHA:193
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Short st... OMIM:607812
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Spina bifida occulta, Iris coloboma, Aplasia/Hypoplasia inv... ORPHA:2369
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Holoprosencephaly 7
Flat occiput, Parietal bossing, Median cleft palate, Iris coloboma, Hypoplasia of the premaxilla,... OMIM:610828
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Conductive heari... ORPHA:794
8Q22.1 Microdeletion Syndrome
Abnormal pinna morphology, Underfolded helix, Craniosynostosis, Short neck, Hypoplasia of the max... ORPHA:178303
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Pugilistic facies, Hyperplasia ... OMIM:300280
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the pyramidal tract, Hypoplasia of the brainstem, Holoprosencephaly, Atrial septal ... OMIM:253800
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Micrognathia, Hypoplasia of the maxilla,... OMIM:216550
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Hypoplasia of the maxilla, Hip dislocation, Protruding ear, Pectus carin... ORPHA:481152
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Patent foramen ovale, Primar... ORPHA:89844
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Dextrocardia
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Hydrocephalus, Abnormal lung lobati... ORPHA:1666
Ayme-Gripp Syndrome
Mandibular prognathia, Brachycephaly, Short stature, Microtia, Low-set ears, Narrow mouth, Cranio... OMIM:601088
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Pectus carinatum... OMIM:182212
Marden-Walker Syndrome
Dextrocardia, Short neck, Micrognathia, Kyphosis, Postnatal growth retardation, High, narrow pala... OMIM:248700
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Cataract, Camptodactyly o... ORPHA:391474
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus OMIM:601355
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal heart morphology, Microcornea, Short p... OMIM:601499
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... ORPHA:560
22Q11.2 Duplication Syndrome
Ventricular septal defect, Microcephaly, Cleft palate, Growth delay, Hypoplastic left heart, Tran... ORPHA:1727
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Frontal bossing, Short stature, Camptodactyly of finger, Kyphoscoliosi... OMIM:612350
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial asymmetry, Hypoplasia of the maxilla, Brachycephaly, High palate, Scoliosis, Macrotia, Lon... OMIM:218000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Acrootoocular Syndrome
Delayed eruption of teeth, Short stature, Kyphoscoliosis, Grayish enamel, Micrognathia, Pectus ex... ORPHA:2980
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Brachycephaly, High palate, Thickened helices, Broad ribs... OMIM:608328
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Malformation of the hepatic duc... OMIM:614175
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu... OMIM:265380
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt... OMIM:241310
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Oro... ORPHA:2166
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Shprintzen-Goldberg Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi... ORPHA:2462
Ck Syndrome
Narrow face, Posteriorly rotated ears, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Hi... OMIM:300831
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Sensorineural hearing impairm... ORPHA:261197
Fetal Trimethadione Syndrome
Ventricular septal defect, Microcephaly, High palate, Transposition of the great arteries, Scolio... ORPHA:1913
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Short stature, Tarsal synostosis, Abnormali... ORPHA:1307
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of the cochlea, Wide mouth, P... ORPHA:251061
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Turriceph... OMIM:203550
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Short stature, Flat occiput, Kyphoscoliosis, High, narrow palate, Atlantoaxial abnormal... ORPHA:3433
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... ORPHA:1354
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cle... ORPHA:77300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Hamartoma of tongue, Short neck, Hydrocephalus, ... OMIM:616546
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Ab... OMIM:265900
Van Maldergem Syndrome 1
Irregular dentition, Sacral dimple, Tented upper lip vermilion, Wide cranial sutures, Micrognathi... OMIM:601390
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Long face, Cataract, Micrognathia, Hypoplasia of the maxilla, Malar flatte... OMIM:620157
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... OMIM:613686
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... ORPHA:261243
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Protruding ear, Short phi... ORPHA:85317
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Scapular winging, Short stature, Short mandibular rami, Dental crowding... OMIM:170390
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Cowden Syndrome 5
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... OMIM:615108
Keipert Syndrome
Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Hypoplasia of the maxilla, Se... ORPHA:2662
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... OMIM:613805
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... ORPHA:228396
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Short stature, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the elbo... ORPHA:3268
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormal cardi... ORPHA:2412
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion, Long face OMIM:608931
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, H... ORPHA:3145
Aarskog-Scott Syndrome
Round face, Short stature, Short neck, Hypoplasia of the maxilla, Hypoplasia of the odontoid proc... OMIM:305400
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia, Short thorax, Disproport... ORPHA:1801
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Cerebellar hypoplasia... ORPHA:3240
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Persistenc... ORPHA:37553
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Micrognathia, Pectus excavatum, Dental malocclusion, High pala... OMIM:617258
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Coarse facial features, Ventricular septal defect, Dextrocardia, Downtu... OMIM:618067
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Pulmonary hypoplasia,... OMIM:236500
Frank-Ter Haar Syndrome
Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defe... OMIM:249420
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal... OMIM:234100
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ... ORPHA:950
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, C... ORPHA:2399
Muenke Syndrome
Capitate-hamate fusion, Sensorineural hearing impairment, Dental malocclusion, Brachycephaly, Pla... OMIM:602849
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... ORPHA:245
8P Inverted Duplication/Deletion Syndrome
Round face, Dextrocardia, Micrognathia, Short neck, Pectus excavatum, High, narrow palate, Abnorm... ORPHA:96092
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,... OMIM:600920
Constricting Bands, Congenital
Encephalocele, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Scoliosis, Ectopia co... OMIM:217100
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Mohr Syndrome
Median cleft lip, Short stature, Wormian bones, Accessory oral frenulum, Micrognathia, Hypoplasia... OMIM:252100
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Gorlin-Chaudhry-Moss Syndrome
Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Brachycepha... ORPHA:2095
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Microcephaly, Pyloric stenosis, Patent ductus arteriosus, Anencepha... OMIM:619148
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decreased calvarial oss... OMIM:259440
Jackson-Weiss Syndrome
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio... ORPHA:1540
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, W... OMIM:259600
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Cowden Syndrome 6
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... OMIM:615109
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... OMIM:220210
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Molar tooth sign on MRI, Agenesi... OMIM:249000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Narrow face, Frontal bossing, Ventricular septal defect, Dental crowdin... OMIM:309520
Spondyloepiphyseal Dysplasia, Stanescu Type
Short stature, Kyphoscoliosis, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bo... OMIM:616583
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Cataract, Short stature, Hyperlordosis, Micrognathia, Brachyce... ORPHA:1387
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cataract, Short stature, Micrognathia, Abnormality of the dentition, Sensorineural hearing impair... ORPHA:85321
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Conjunctival hyperemia OMIM:167730
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... OMIM:615761
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Short neck, Microgna... ORPHA:1703
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... OMIM:619797
Grant Syndrome
Large face, Frontal bossing, Joint dislocation, Short stature, Micrognathia, Open bite, Abnormal ... ORPHA:2097
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... OMIM:157980
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Conductive hea... ORPHA:861
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Dextrocardia, Thoracolumbar scoliosis, Micrognathia, Spina bif... ORPHA:2437
Heterotaxy, Visceral, 2, Autosomal
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Zimmermann-Laband Syndrome
Cataract, Micrognathia, Short neck, Supernumerary tooth, Sensorineural hearing impairment, Gingiv... ORPHA:3473
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Kyphoscoliosis... OMIM:614815
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Velocardiofacial Syndrome
Ventricular septal defect, Short stature, Cryptorchidism, Velopharyngeal insufficiency, Submucous... OMIM:192430
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Short stature, Micrognathia, Carious teeth, Craniosynost... ORPHA:96097
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Short stature, Abnormal dental enamel morphology... ORPHA:582
Cleft Velum
Short face, Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Conductiv... ORPHA:99772
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Malar prominence, Hyperl... ORPHA:2522
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Cleft palate, Low-set ears, ... OMIM:614261
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Downtur... OMIM:615546
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... OMIM:600001
Distal Xq28 Microduplication Syndrome
Short stature, Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower li... ORPHA:293939
Microhydranencephaly
Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... OMIM:605013
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Exaggerated cupid's bow, Den... OMIM:619293
Cri-Du-Chat Syndrome
Microretrognathia, Long face, Narrow face, Cataract, Abnormal pinna morphology, Round face, Facia... OMIM:123450
Cerebellofaciodental Syndrome
Cataract, Ventricular septal defect, Short stature, Short neck, Dental malocclusion, Mitral valve... OMIM:616202
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lum... OMIM:253000
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Corneal dystrophy, Camptodactyly of finger, Dolichocephaly, Hypoplasia of ... ORPHA:1101
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Hypoplasia o... ORPHA:87
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... ORPHA:2255
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Severe short stature, Catara... ORPHA:2588
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Neonatal death, Atrial septal defect, Pulmonary artery atresia, Si... OMIM:601186
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Blue irides, B... OMIM:105830
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Geroderma Osteodysplasticum
Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Kyphoscoliosis, Hypopla... OMIM:231070
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Cupped ear... OMIM:300867
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Hemivertebrae, Brachycephaly, High palate, N... OMIM:213980
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Kyphosis, Wide mouth, Ev... ORPHA:2429
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia,... OMIM:616462
8P23.1 Microdeletion Syndrome
Short stature, Short neck, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Gro... ORPHA:251071
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Genu recurvatum, Campto... ORPHA:137834
Recombinant Chromosome 8 Syndrome
Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Gingival overgrow... OMIM:179613
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Achard Syndrome
Broad skull, Brachycephaly, Micrognathia OMIM:100700
Usher Syndrome
Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Apl... ORPHA:886
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... OMIM:224690
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Short Syndrome
Delayed eruption of teeth, Frontal bossing, Rieger anomaly, Cataract, Micrognathia, Sensorineural... OMIM:269880
Mosaic Trisomy 9
Micrognathia, Short neck, Hemivertebrae, High palate, Biparietal narrowing, Endocardial fibroelas... ORPHA:99776
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Int... OMIM:265000
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Short stature, Anomalous origin of left coronary artery from the pulmonar... ORPHA:2326
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short stature, Short neck, Thick l... ORPHA:2563
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, High, narrow palate, Cereb... OMIM:616920
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... ORPHA:2345
Cerebrocostomandibular Syndrome
Cerebral calcification, Ventricular septal defect, Short stature, Spina bifida, Microcephaly, Kyp... ORPHA:1393
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... ORPHA:97360
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Micro... ORPHA:48431
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Round face, Deep philtrum, Everted lower lip vermilion, Long philtr... OMIM:137550
Sclerosteosis 1
Mandibular prognathia, Large face, Frontal bossing, Sclerotic scapulae, Broad clavicles, Dental m... OMIM:269500
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Long philtrum ORPHA:2598
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Dental malocclusion, Elbow flexion contracture, K... ORPHA:2920
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Frontal bossing, Flexion contracture of finger, Corneal opacity, Micro... OMIM:601812
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Brachycephaly, Growth delay, Microcornea, High palate, Narrow mouth, Ret... ORPHA:2528
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow face, Flat occiput, Dental crowding, Short neck, Micrognathia, High palate, Short philtrum... ORPHA:251028
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Square face, Postnatal growth retardation, Thick lower lip vermilion, Brac... OMIM:309545
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Short stature, Microgna... OMIM:613803
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Short stature, Micrognathia, Hypoplasia of the m... OMIM:300534
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Pectus excavatum, Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth... ORPHA:166024
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Brachycephaly, Pectus carin... OMIM:615419
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow, Intestinal m... OMIM:618316
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Severe short stature, Micrognathia, Carious teeth, Kyphosis, O... ORPHA:2617
Friedreich Ataxia
Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Dystonia, Intention tremor,... ORPHA:95
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Co... OMIM:300373
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cl... OMIM:106260
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Ataxia, Action tremor, Abnormal cerebellum morphology, Brady... ORPHA:98762
Acromesomelic Dysplasia, Maroteaux Type
Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature,... ORPHA:40
Coffin-Siris Syndrome 6
Atrial septal defect, Frontal bossing, Coarse facial features, Posteriorly rotated ears, Short st... OMIM:617808
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Protruding... OMIM:612474
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,... ORPHA:1452
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... ORPHA:2616
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Abnormality of th... ORPHA:210110
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Kyphosis, Scoliosis, Protruding ear OMIM:300861
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Lumbar hyper... ORPHA:2839
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Joint dislocation, Camptodactyly... ORPHA:628
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Micrognathia, Kyphosis, Narrow mouth, Abnormal heart morphology, Joint contracture... ORPHA:352490
Lateral Meningocele Syndrome
Narrow face, Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the... ORPHA:2789
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Micrognathia, Kyphosis, Deep philtrum, Narrow mouth, Brachycephaly, Wide mouth, Um... OMIM:615834
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Brachycephaly, Do... ORPHA:1299
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, ... OMIM:234250
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Short stature, Kyphosis, Pectus carinatum, Delayed ossificati... OMIM:618392
Marden-Walker Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal anat... ORPHA:2461
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Genu recurvatum, Situs inversus totalis, Kyphosis, Mitral valve prolapse, ... OMIM:609008
Cowden Syndrome 1
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Furrowed tongue, H... OMIM:158350
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ... ORPHA:828
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Hypoplastic vertebral bodies, Narrow chest,... OMIM:215140
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Moyamoya phenomenon, Dilated ca... OMIM:300845
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, Proportionate short stature, ... OMIM:227330
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Cerebral white matter atrophy, Short stature, ... ORPHA:356961
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophag... ORPHA:1780
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Catarac... ORPHA:444072
Renpenning Syndrome
Mandibular prognathia, Narrow face, Severe short stature, Cataract, Macrodontia, Pectus excavatum... ORPHA:3242
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli... ORPHA:300570
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Frontal bossing, Short stature, Micrognathia, Short neck, Kyphosis, Aplasi... ORPHA:3082
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... OMIM:225790
3P25.3 Microdeletion Syndrome
Sacral dimple, Cerebral white matter atrophy, Ventricular septal defect, High, narrow palate, Pat... ORPHA:435638
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Short stature, Left atrial enlargement, Dental crowding,... OMIM:614008
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Partial anomalo... OMIM:617478
Schwartz-Jampel Syndrome
Micrognathia, Short neck, Pectus carinatum, Microcornea, High palate, Wrist flexion contracture, ... ORPHA:800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrod... ORPHA:2916
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Short neck, Downturned corners of mouth, Patent foramen ov... OMIM:616894
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... OMIM:112350
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Triangular face, Wormian bones, Protrusio acetabuli, Micrognathia, Kyphosis, Thi... OMIM:259420
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Long face, Abnormal oral mucosa morphology, Camptodactyly of f... ORPHA:1968
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Limited elbow movement, Protruding ear, Limitation of knee mobility, High palate, H... ORPHA:319171
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Megalocornea, Bifid... OMIM:211380
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing impairment, Pre... OMIM:102500
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Carious te... OMIM:615560
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... OMIM:608257
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root aneurysm, Transpos... OMIM:619910
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Short stature, Micrognathia,... ORPHA:1131
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Microcephaly, Esophageal atresia, Abnorma... ORPHA:3380
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Carious teeth, Genu v... ORPHA:1110
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral whit... ORPHA:363717
Schisis Association
Encephalocele, Spina bifida, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, ... ORPHA:63862
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Abnormal cervical myelogram, Platybasia, Craniofacial asymmetry OMIM:109500
Poland Syndrome
Dextrocardia, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Bile duct prolifer... OMIM:603194
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... ORPHA:96129
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Sensorineural hearing impairment, Dental malo... OMIM:616737
Congenital Disorder Of Glycosylation, Type Iik
Posteriorly rotated ears, Short stature, Kyphoscoliosis, Growth delay, Low-set ears, Malar flatte... OMIM:614727
Cole-Carpenter Syndrome 2
Microretrognathia, Frontal bossing, Turricephaly, Triangular face, Short stature, Wide cranial su... OMIM:616294
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Micrognathia, Kyphosis, High palate, Scoliosis, Low-set ears, Retrognathia OMIM:611890
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Trismus, Whistling appear... OMIM:277720
Cach Syndrome
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Atrophy/Degeneration affecting the bra... ORPHA:135
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum... ORPHA:250989
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin lower lip v... ORPHA:363444
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Hemivertebrae, Abnormal rib morphology,... ORPHA:2180
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Frontal bossing, Coarse facial features, Short stature, Abnormal rib m... ORPHA:1513
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Cataract, Short stature, Selective tooth agenesis, Micrognathia, Band keratop... ORPHA:2959
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Porencephalic cyst, Chiari malformation, Atrial septal de... ORPHA:254351
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Hemifacial hypoplasia, Persistence of primary teeth, Conical tooth, Dental malocclusion... OMIM:618727
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... OMIM:139210
Pfeiffer Syndrome
Mandibular prognathia, Cloverleaf skull, Dental crowding, Hypoplasia of the maxilla, Humeroradial... OMIM:101600
Catel-Manzke Syndrome
Ventricular septal defect, Short stature, Cleft palate, Glossoptosis, Atrial septal defect, Oral ... ORPHA:1388
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... ORPHA:236
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Short neck... OMIM:608156
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, Downturned corners of mo... OMIM:618371
Autosomal Recessive Stickler Syndrome
Cataract, Short stature, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgu... ORPHA:250984
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Facial asymmetry, Ectopia lentis, Pectus excavatum, Cubitus valgus, Denta... OMIM:601552
Cardiofaciocutaneous Syndrome 1
Micrognathia, Short neck, Deep philtrum, Pectus carinatum, High palate, Atrial septal defect, Sho... OMIM:115150
3Mc Syndrome 2
Prominence of the premaxilla, Hearing impairment, Cleft upper lip, Postnatal growth retardation, ... OMIM:265050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Megalencephaly, Kyphosis, Hydrocephalus, Thick cor... OMIM:603387
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Narrow face, Cataract, Short stature, Malar prominence, Wide mouth, Large ... ORPHA:2715
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Scoliosi... ORPHA:329178
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Spina bifida oc... OMIM:273750
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Frontal bossing, Short stature, Pectus excavatum, Kyphosis, Pectus carinatum, Oligodontia, Everte... ORPHA:276630
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal optic disc morphology, Gastroesop... ORPHA:397715
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Short stature, Ectopia lentis, Pectus excavatum, Hyperextensibility of the kne... OMIM:130000
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Short stature, Prominent crus of helix, Parietal forami... OMIM:101400
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Brac... OMIM:618644
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Alg3-Cdg
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Microcephaly, Hypoplasi... ORPHA:79321
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Rhizomelic Chondrodysplasia Punctata, Type 1
Frontal bossing, Severe short stature, Rhizomelia, Kyphoscoliosis, Micrognathia, Sensorineural he... OMIM:215100
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar... OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Brachycephaly, Short philtrum, H... ORPHA:96121
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, Sp... ORPHA:2780
Cerebrofacioarticular Syndrome
Irregular dentition, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormal heart morph... ORPHA:314679
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short stature, Short neck, Micrognathia, Kyphosis, Membranous ... ORPHA:3191
Mulchandani-Bhoj-Conlin Syndrome
Severe short stature, Posteriorly rotated ears, Hyperlordosis, Scoliosis, Dolichocephaly, Intraut... OMIM:617352
Hamamy Syndrome
Thin upper lip vermilion, Down-sloping shoulders, Craniosynostosis, Micrognathia, Pectus excavatu... OMIM:611174
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Short stature, Cam... ORPHA:1488
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High palate, Bifid u... OMIM:616145
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Narrow face, Hypoplastic scapula... ORPHA:958
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Optic atrophy, Cerebral atrophy, Growth delay, Focal T2 hyperintense thalam... OMIM:619057
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Short stature, Delayed cra... ORPHA:2484
Cole-Carpenter Syndrome
Delayed eruption of teeth, Frontal bossing, Turricephaly, Short stature, Abnormal dental enamel m... ORPHA:2050
Charge Syndrome
Aqueductal stenosis, Hemivertebrae, Gastroesophageal reflux, Holoprosencephaly, Aplasia/Hypoplasi... ORPHA:138
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Short stature, Craniosynostosis, Micrognathia, Abnormal rib morphology, Brachycepha... ORPHA:2145
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Round face, Short stature, Dental crowding, Growt... OMIM:620370
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Wormian bones, Short stature, Dental crowding, Carious teeth,... OMIM:269300
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Scaphoce... OMIM:614886
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,... ORPHA:2635
Achondrogenesis Type 1B
Frontal bossing, Severe short stature, Short neck, Micrognathia, Short thorax, Abnormal rib morph... ORPHA:93298
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, High palate, Scoliosis OMIM:611225
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Hypoplastic scapulae, Rhizomel... OMIM:166250
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal rib morphology, Abnormal ... ORPHA:1120
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ... OMIM:617542
Pfeiffer Syndrome
Mandibular prognathia, Turricephaly, Short stature, Hyperlordosis, Short neck, Hypoplasia of the ... ORPHA:710
Zttk Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palat... OMIM:617140
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Narrow chest, Microdontia, Atrial septal defect... ORPHA:289
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... OMIM:614188
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Scoliosis,... OMIM:108300
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, H... OMIM:619072
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Short neck, Hypoplasia of the maxilla, Corneal erosion, Oligodontia, S... OMIM:609460
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormali... ORPHA:3098
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Microcornea, K... ORPHA:536545
Femoral-Facial Syndrome
Thin upper lip vermilion, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib m... ORPHA:1988
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Abnormal rib morphology, Ab... ORPHA:2876
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Disproportionate shor... OMIM:271530
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Ventricular septal defect, Short stature, Microcephaly, ... OMIM:300712
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... OMIM:619040
Oculoskeletodental Syndrome
Short stature, Hyperlordosis, Dysplastic corpus callosum, Stroke, Thoracic kyphosis, Scoliosis, F... ORPHA:557003
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie... OMIM:619995
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Hyperlordosis, Hypoplasia of the... OMIM:253010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short... ORPHA:96334
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Midface retrusion, Short stature, Micrognathia, Pectus carinatum, Prog... OMIM:613849
Ververi-Brady Syndrome
Short stature, Microcephaly, High palate, Transposition of the great arteries, Scoliosis, Intraut... OMIM:617982
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Brachycephaly, Pectus carinatum, Bifid uvula, Syno... OMIM:101200
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Short neck, Primary microcephaly, Patent ductus arterios... OMIM:256520
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... OMIM:130060
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Short stature, Short neck, Micrognathia, Abnormality of the el... ORPHA:1486
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Hig... OMIM:612946
Codas Syndrome
Delayed eruption of teeth, Short stature, Hypoplasia of the odontoid process, Broad skull, Crypto... OMIM:600373
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Tongue fascicu... OMIM:253300
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Microceph... ORPHA:564
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo... OMIM:613680
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... ORPHA:467166
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Dextrocardia, Sprengel anoma... OMIM:618929
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Eng-Strom Syndrome
Short stature, Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology, S... ORPHA:1937
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Coarse facial features, Genu recurvatum, Kypho... OMIM:300602
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... OMIM:612284
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Turricephaly, Severe short stature, Abnormal dental enamel mor... ORPHA:1005
Rapp-Hodgkin Syndrome
Short stature, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velophar... OMIM:129400
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Glossoptosis, Thorac... OMIM:602535
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Dextrocardia, Abnormality of the dentition, Sensorineur... ORPHA:2315
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... ORPHA:3304
Flynn-Aird Syndrome
Carious teeth, Progressive sensorineural hearing impairment, Cataract, Kyphoscoliosis OMIM:136300
Cockayne Syndrome Type 2
Mandibular prognathia, Long face, Delayed eruption of primary teeth, Kyphosis, Developmental cata... ORPHA:90322
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries, Short neck OMIM:616789
Microphthalmia, Lenz Type
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Catar... ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality ... OMIM:601076
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Abnormal heart mor... ORPHA:254525
Monosomy 18P
Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Brachyc... ORPHA:1598
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Craniofacial ost... OMIM:122860
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Pos... OMIM:614541
Winchester Syndrome
Arthropathy, Coarse facial features, Corneal opacity, Kyphosis, Gingival overgrowth, Carpal osteo... OMIM:277950
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Cataract, Abnormal rib morphology, Downturned corners of mouth, Intrauterin... ORPHA:2643
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck ORPHA:2744
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hearing impairment... ORPHA:1883
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... OMIM:617751
Microphthalmia, Syndromic 2
Narrow face, Anteverted ears, Microcornea, Oligodontia, Fused teeth, Atrial septal defect, Iris c... OMIM:300166
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Abnormal heart morphology, Abnormal cere... ORPHA:79264
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Patent ductus arteriosus, Everted lower lip vermilion, ... OMIM:249670
Anencephaly 2
Anencephaly, Median cleft palate OMIM:619452
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Scoliosis ORPHA:816
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atrioventric... OMIM:613792
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Kyphoscoliosis, Abnormal mandible condylar process morpholo... ORPHA:2976
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long face, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Prominent protru... ORPHA:480907
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Kyphosis, Cleft palate, Abnormal heart morphol... ORPHA:404440
Hydrolethalus
Absent septum pellucidum, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, ... ORPHA:2189
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Protruding ... ORPHA:261144
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Flat face OMIM:122880
Mirage Syndrome
Short stature, Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus, Esophageal stricture, H... OMIM:617053
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Bifid uvula... OMIM:616580
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral calcification, Cerebral hemorrhage, Diffuse alveolar hemorr... ORPHA:464321
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Rib fusion, Cleft p... ORPHA:50
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... OMIM:615524
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, A... ORPHA:2645
Fanconi Anemia, Complementation Group S
Coarse facial features, Macrodontia, Short stature, Dental malocclusion, Narrow palate, Thick upp... OMIM:617883
Wieacker-Wolff Syndrome
Short stature, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Hip dislocation, High palate, N... OMIM:314580
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... OMIM:613759
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Pectus excavatum, Dental malocclusion, Narrow ... OMIM:618975
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Brachycephaly, Abno... ORPHA:666
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal ... ORPHA:1166
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Severe short stature, Missing ribs, Short neck, Hyperlordosis, ... ORPHA:1797
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Camptodactyly of finger, Cranio... ORPHA:83
3C Syndrome
Short neck, High, narrow palate, Hemivertebrae, Abnormal tricuspid valve morphology, Gastroesopha... ORPHA:7
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Abnormal thorax morphology, Abnormal heart morphology,... ORPHA:1708
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short stature, Short nec... ORPHA:2311
Acrofacial Dysostosis, Catania Type
Microretrognathia, Low-set, posteriorly rotated ears, Short stature, Abnormality of the dentition... ORPHA:1786
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract, Short stature, Congenital bilateral hip dislocation ORPHA:85288
Fibrochondrogenesis 2
Frontal bossing, Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Malar ... OMIM:614524
Alagille Syndrome
Keratoconus, Frontal bossing, Round face, Coarse facial features, Ventricular septal defect, Corn... ORPHA:52
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Posteriorly rotated ears, Short stature, Short neck, Kyphosis... OMIM:301041
Codas Syndrome
Delayed eruption of teeth, Cataract, Ventricular septal defect, Abnormal dental enamel morphology... ORPHA:1458
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... OMIM:618619
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Mic... OMIM:258850
Lateral Meningocele Syndrome
Bicuspid aortic valve, Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing... OMIM:130720
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Genu ... OMIM:223800
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septa... ORPHA:2044
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Ever... ORPHA:261120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Hyd... ORPHA:163979
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Recurrent respiratory infections, Hepatic steatosis,... ORPHA:17
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... OMIM:614424
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone, Short stature ORPHA:2835
Mosaic Trisomy 8
Long face, Frontal bossing, Abnormal pinna morphology, Short stature, Corneal opacity, Micrognath... ORPHA:96061
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip dislocation, Elbow flexion contracture, ... ORPHA:75840
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Orofacial cleft ORPHA:220493
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... ORPHA:2306
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Postnata... ORPHA:487796
Trisomy 13
High, narrow palate, Narrow chest, Atrial septal defect, Iris coloboma, Abnormal rib morphology, ... ORPHA:3378
Distal Duplication 6P
Frontal bossing, Sacral dimple, Cataract, Short stature, Short neck, Micrognathia, Aplasia/Hypopl... ORPHA:1745
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Frontal bossing, Short stature, Micrognathia, Kyphosis, Sensorineural hearing impai... ORPHA:2479
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro... OMIM:613668
Sonoda Syndrome
Ventricular septal defect, Short stature, Narrow mouth OMIM:270460
Chromosome 5Q12 Deletion Syndrome
Frontal bossing, Sacral dimple, Coarse facial features, Posteriorly rotated ears, Ventricular sep... OMIM:615668
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Pectus carinatum, Knee flexion co... OMIM:121050
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Cataract, Short stature, Short neck, Pectus excavatum, Cleft ... OMIM:618571
Coffin-Lowry Syndrome
Mandibular prognathia, Protruding ear, Pectus carinatum, High palate, Widely spaced teeth, Short ... OMIM:303600
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Short stature, Limited elbow movement, Short neck, Postnatal growth ret... OMIM:300590
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Sh... OMIM:614294
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Frontal bossing, Sacral dimple, Micrognathia, Pectus excavatum, Kyphosis, Umbilical hernia OMIM:618272
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... OMIM:619534
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Abnormal globus pallidus morphology, Abnormal caudate nucleus morph... ORPHA:397725
Faciocardiomelic Syndrome
Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Narrow chest, Long... OMIM:612731
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cubitus valgus, Protruding ear, Genu valgum, Hypoplasia of the zygomatic b... ORPHA:1778
Distal Triplication 15Q
Corneal dystrophy, Craniosynostosis, Micrognathia, Kyphosis, Sensorineural hearing impairment, Cu... ORPHA:314588
Acalvaria
Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly ORPHA:945
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Short thorax, Patent ductus arteriosus, Ap... ORPHA:93274
Toluene Embryopathy
Short stature, Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic b... ORPHA:1920
Pycnodysostosis
Frontal bossing, Persistent open anterior fontanelle, Short stature, Delayed eruption of primary ... OMIM:265800
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Short stature, Pectus excavatum, Patent ductus arteriosus, Lateral ven... OMIM:618330
Aicardi Syndrome
Prominence of the premaxilla, Cataract, Block vertebrae, Spina bifida, Missing ribs, Postnatal gr... OMIM:304050
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne... OMIM:261540
Noonan Syndrome 1
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... OMIM:163950
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa... OMIM:216360
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Micrognathia, Dolichocephaly, Dental malocclusion, Prot... OMIM:606232
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Short stature, Short neck, Pectus excavatum... ORPHA:52055
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Hypoplastic scapulae, Short stature, Short neck, Hypoplasia of the odontoid ... OMIM:607326
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect ORPHA:1931
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Dental crowding, Carious teeth, Kyphos... OMIM:617602
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, Increased ver... OMIM:616817
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Seckel Syndrome 8
Short stature, Kyphoscoliosis, Micrognathia OMIM:615807
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Abnormal heart morphology OMIM:600252
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration... OMIM:236680
Spondyloenchondrodysplasia
Delayed eruption of teeth, Short stature, Kyphosis, Dental malocclusion, Disproportionate short-t... ORPHA:1855
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Vertebra... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Vertebra... ORPHA:352665
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... ORPHA:477817
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Developmental cataract, Growth d... OMIM:610756
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, ... ORPHA:306542
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Micrognathia, Secundum atrial septal defect, Pectus carinatum, High palate, Macrotia, Hyperplasia... OMIM:620194
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Facial as... OMIM:617061
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Hyper... ORPHA:3253
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short stature, Cryptorchidism, Wide mouth, H... OMIM:618846
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... OMIM:119600
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrain morpho... ORPHA:314621
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Glossoptosis, Barrel-shaped chest, A... ORPHA:94068
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia OMIM:614326
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Micrognathia, Kyphosis, Pectus excav... ORPHA:536516
Digeorge Syndrome
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Gastroeso... OMIM:188400
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micrognathia, Short neck, Deep philtrum, Pectus ca... OMIM:255800
Achondrogenesis Type 1A
Multiple rib fractures, Frontal bossing, Severe short stature, Short neck, Micrognathia, Short th... ORPHA:93299
Myopathy, Centronuclear, X-Linked
Narrow face, Dental malocclusion, High palate, Dolichocephaly, Long face OMIM:310400
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Koolen-De Vries Syndrome
Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd... ORPHA:96169
Crisponi Syndrome
Large face, Camptodactyly of finger, Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth... ORPHA:1545
Intellectual Developmental Disorder, Autosomal Dominant 21
Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion borde... OMIM:615502
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, 11 pairs of ribs, Agenesis of cerebellar ve... OMIM:615287
Nemaline Myopathy 9
Ventricular septal defect, High palate, Cleft palate OMIM:615731
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Mandibular prognathia, High-frequency sensorineural hearing impairment, Frontal bossing, Postnata... ORPHA:2324
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Microcephaly, A... OMIM:164280
Leigh Syndrome
Gastrointestinal dysmotility, Encephalomalacia, Neutropenia, Focal T2 hyperintense basal ganglia ... ORPHA:506
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, T2 hypointense thalamus, Cerebral atrophy, Vascular granul... ORPHA:1947
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Triangular face, Short stature, Dental crowding, Kyphoscoliosis, Hypoplasi... OMIM:617402
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Cleft palate, Holoprosencephaly,... OMIM:202650
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Stomatitis, Dextrocardia, Short stature, Patent ductus arteriosus, Trac... OMIM:277380
Cenani-Lenz Syndrome
Frontal bossing, Cataract, Abnormal dental enamel morphology, Elbow dislocation, High, narrow pal... ORPHA:3258
Desbuquois Dysplasia 1
Joint dislocation, Short neck, Osteoarthritis, Narrow chest, Genu varum, Microretrognathia, Hyper... OMIM:251450
Meckel Syndrome, Type 5
Occipital encephalocele, Bile duct proliferation, Anencephaly, Cleft palate OMIM:611561
Flynn-Aird Syndrome
Cataract, Carious teeth, Kyphosis, Scoliosis, Progressive sensorineural hearing impairment ORPHA:2047
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Short stature, Genu recurvatum, Uplifted earlobe, Kyphosis, Brachycephaly,... ORPHA:364028
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Microg... OMIM:616897
Carpenter Syndrome 2
Short neck, High, narrow palate, Brachycephaly, Protruding ear, Pectus carinatum, Knee flexion co... OMIM:614976
Ablepharon Macrostomia Syndrome
Corneal opacity, Camptodactyly of finger, Hypoplasia of the maxilla, Corneal erosion, Growth dela... ORPHA:920
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Short stature, Kyphoscoliosis, Micrognathia, Camptodactyly of finger, H... OMIM:610758
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Borjeson-Forssman-Lehmann Syndrome
Coarse facial features, Short stature, Kyphosis, Scoliosis, Delayed puberty, Macrotia, Thickened ... OMIM:301900
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia, Short stature ORPHA:391646
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Ast... OMIM:609029
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Short stature, Rhizomelia, Micrognathia, Thin ribs, Wide mouth, Platyspondyly, S... ORPHA:163966
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... ORPHA:2769
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe... OMIM:619306
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi... OMIM:616276
Oculofaciocardiodental Syndrome
Narrow face, Microcornea, Oligodontia, Fused teeth, Iris coloboma, Abnormal cardiac septum morpho... ORPHA:2712
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Abnormal heart morph... ORPHA:401935
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, E... OMIM:192350
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... OMIM:224300
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Atria... OMIM:180849
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Hearing impairment, ... ORPHA:49042
Cherubism
Jaw swelling, Round face, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodon... OMIM:118400
Hypohidrotic Ectodermal Dysplasia
Frontal bossing, Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia ... ORPHA:238468
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Brachyceph... ORPHA:1790
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abno... ORPHA:263463
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... ORPHA:2515
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Gastroe... OMIM:249270
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Mucolipidosis Iii Gamma
Coarse facial features, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Gen... OMIM:252605
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation de... OMIM:312870
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Severe short stature, Posteriorly rotated ears, Cataract, Anisospondyly,... OMIM:224410
Schaaf-Yang Syndrome
Mandibular prognathia, Frontal bossing, Coarse facial features, Short stature, Abnormality of the... OMIM:615547
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Hydrocephalus, Short thorax, Patent ductus arteriosus, Kyph... ORPHA:2655
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pectus excav... ORPHA:2970
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Postnatal growth retardation, High palate, Short philtrum, Scoliosis, Intrauterine ... ORPHA:254531
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... OMIM:616652
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Dyskeratosis Congenita
Cataract, Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, ... ORPHA:1775
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... ORPHA:2215
Li-Campeau Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Gastrointestinal dysmotility,... OMIM:619189
Martin-Probst Syndrome
Short stature, Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental ... OMIM:300519
Monosomy 18Q
Absence of the pulmonary valve, Short stature, Kyphoscoliosis, Microcephaly, Pectus excavatum, Se... ORPHA:1600
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Prominent occiput,... OMIM:619122
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Short stature, Microcephaly, Esophageal atresia, Patent duct... ORPHA:391641
Urban-Rogers-Meyer Syndrome
Short stature, Abnormality of the philtrum, Camptodactyly of finger, Short neck, Micrognathia, Ky... ORPHA:3409
Cousin Syndrome
Hypoplastic scapulae, Long clavicles, Rhizomelia, Short neck, Hydrocephalus, Disproportionate sho... OMIM:260660
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Cataract, Ovoid vertebral bodies, Short neck, Micrognathia, Abnormality of the e... ORPHA:163649
Mucopolysaccharidosis Type 6
Coarse facial features, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short... ORPHA:583
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Low-set ears, Narrow mouth, Microg... OMIM:612776
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Ventricular septal defect, Tented upper lip vermilion, Uplifted earlobe, Kyphosis, Clef... OMIM:616449
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft pal... OMIM:619184
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Thoracic scoliosis, Peripheral axonal neu... ORPHA:254930
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Pectus carinatum, Bifid uvula, Barrel-shaped chest, Lumbar hy... OMIM:183900
Craniofacial Microsomia 1
Occipital encephalocele, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hemivert... OMIM:164210
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Recurre... ORPHA:500159
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Abnormal pinna morphology, Delayed eruption of prima... OMIM:133540
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Long philtrum, Spina bifida, Mitral valve prolapse OMIM:211960
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Atrial septal defect, Hepatomegaly, Patent ductus arteriosus... OMIM:614576
Crisponi/Cold-Induced Sweating Syndrome 1
Large face, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Short neck, Keratitis, Elbow fl... OMIM:272430
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... OMIM:180500
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anenceph... ORPHA:63259
Otopalatodigital Syndrome Type 2
Micrognathia, Glossoptosis, Oligodontia, Narrow chest, Abnormal vertebral segmentation and fusion... ORPHA:90652
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cryp... ORPHA:2059
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Coarse facial features, Short stature, Hyperopic astigmatism, Craniosynost... OMIM:252600
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long face, Thin upper lip vermilion, Round face, Short stature, Thoracolumbar scoliosis, Macrodon... OMIM:618443
Restrictive Dermopathy
Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Widely p... ORPHA:1662
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Kyphosis, Pectus carinatum, Tongue fasciculations, Narrow mouth OMIM:620007
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... OMIM:619717
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Short neck, Brachycephaly, Short stature, Thoracolumbar kyphoscoliosis, Di... OMIM:212066
Holoprosencephaly 2
Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, A... OMIM:157170
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, Cleft lip, Dental... OMIM:603457
Kleefstra Syndrome 2
Kyphosis, Growth delay, Plagiocephaly, Everted lower lip vermilion, Scoliosis, Midface retrusion,... OMIM:617768
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Microgn... OMIM:114300
Shashi-Pena Syndrome
Long face, Thin upper lip vermilion, Posteriorly rotated ears, Kyphosis, Cupped ear, Low-set ears... OMIM:617190
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short neck, Cleft upper lip, Cuppe... OMIM:263650
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... OMIM:619111
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Long face, Pulmo... ORPHA:284984
Trichorhinophalangeal Syndrome Type 1
Frontal bossing, Short stature, Camptodactyly of finger, Hyperlordosis, Micrognathia, Abnormality... ORPHA:77258
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Hemivertebr... OMIM:214800
16Q24.3 Microdeletion Syndrome
Long face, Frontal bossing, Ventricular septal defect, Micrognathia, Kyphosis, Dilated cardiomyop... ORPHA:261250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... OMIM:600987
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... OMIM:612561
Genitopalatocardiac Syndrome
Micrognathia, Kyphosis, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Abnorma... ORPHA:2075
Osteogenesis Imperfecta, Type Xi
Triangular face, Short stature, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Vertebral wed... OMIM:610968
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Midface retrusion, Bicuspid aortic valve, Short stature, Short neck, Po... OMIM:243310
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Micrognathia, Missing ribs, Abnormal rib morp... ORPHA:1834
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel... ORPHA:85199
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Cataract, Abnormal pinna morphology, Short stature, Delay... OMIM:216400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal facial shape, Long face ORPHA:3044
Triploidy
Intestinal malrotation, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mou... ORPHA:3376
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Holt-Oram Syndrome
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... ORPHA:392
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... OMIM:618193
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Abnormal pinna morphology, Micrognathia, Kyphosis, Hip... OMIM:618291
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Antecubital pterygium, Conotruncal d... ORPHA:40366
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Osteogenesis Imperfecta, Type Xiii
Triangular face, Short stature, Kyphoscoliosis, Protruding ear, Pectus carinatum, Enlarged thorax... OMIM:614856
Emanuel Syndrome
High palate, Gastroesophageal reflux, Atrial septal defect, Agenesis of corpus callosum, Bifid uv... ORPHA:96170
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ... ORPHA:955
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb OMIM:618646
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Basal ganglia calcification, Cerebellar calcifications, Thalamic calcific... OMIM:615483
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Coarse facial features, Abnormal pinna morphology, Short stature, Kyphosis... OMIM:300354
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Hearing impairment OMIM:617087
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Orofaciodigital Syndrome Vi
11 pairs of ribs, Cerebellar vermis hypoplasia, Short stature, Hamartoma of tongue, Porencephalic... OMIM:277170
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Truncus a... OMIM:611867
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Hip sublu... OMIM:268305
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, ... OMIM:301043
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Frontal bossing, Cataract, Short stature, Down-sloping shoulders, Microg... OMIM:616200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Short stature, Ventricular septal defect, Postnat... OMIM:620210
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis, Thin upper lip vermilion OMIM:609384
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Coarse facial features, Severe short stature, Enlarged joints, Thoracolumbar sco... OMIM:313420
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Multiple rib fractures, Wormian bones, Short stature, Rhizomelia, Beaded ribs,... OMIM:616229
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Dolichocephaly, Kyphosis, Bell-shaped thorax, High palate, Scoliosis, Low-set ears ORPHA:178148
Arthrogryposis, Distal, Type 5
Keratoconus, Short stature, Limited wrist extension, Pectus excavatum, Kyphosis, Protruding ear, ... OMIM:108145
Nance-Horan Syndrome
Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Protruding ea... ORPHA:627
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Micrognathia, Post... ORPHA:494344
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Short stature, Cryptorchidism, Megarectum, Hypodontia, Pulmonic stenos... OMIM:301056
Fibrochondrogenesis 1
Short neck, Megalocornea, Patent foramen ovale, Widely patent sagittal suture, Posterior vertebra... OMIM:228520
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature, Microcephaly ORPHA:2435
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Decreased ... OMIM:618265
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth ORPHA:3469
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification OMIM:618824
Fountain Syndrome
Craniofacial hyperostosis, Round face, Coarse facial features, Short stature, Spina bifida, Pectu... ORPHA:3219
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Micro Syndrome
Low-set, posteriorly rotated ears, Cataract, Short stature, Micrognathia, Kyphosis, Microcornea, ... ORPHA:2510
Metatropic Dysplasia
Relatively short spine, Severe short stature, Enlarged joints, Kyphoscoliosis, Clavicular pseudar... OMIM:156530
Tetrasomy 9P
Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p... ORPHA:3310
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Sutural cataract, Scoliosis OMIM:201470
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Abnormal intervertebral disk morphology, Micrognathi... ORPHA:2062
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Atrial septal defect, Conduc... OMIM:117650
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal pinna morphology, Short stature, Hyperlordosis, Abnormal rib ... ORPHA:3068
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Sensorineural hearing impairment, Hip dislocation,... OMIM:616756
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Patent du... ORPHA:290
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Short stature, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epi... OMIM:617088
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... ORPHA:1296
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Coarctation of aorta, Subcort... ORPHA:2396
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pectus excava... ORPHA:329224
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Short stature, Microcephaly, Hypoplasia of the corpus... OMIM:300887
15Q14 Microdeletion Syndrome
Long face, Ventricular septal defect, Short stature, Abnormality of the dentition, Kyphosis, Clef... ORPHA:261190
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Micrognathia, Short neck, Protruding ear, High palate, Atrial septal ... OMIM:609625
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Short neck, Esophageal atresia, Patent ductus arterio... OMIM:300514
Bethlem Myopathy 2
Kyphosis, Scapular winging, Hip dislocation, Scoliosis OMIM:616471
Trisomy 20P
Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, D... ORPHA:261318
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Cerebral infarct, Optic atrophy, Focal T2 hyperintense thalamic lesion, Se... ORPHA:254881
Joubert Syndrome 9
Encephalocele, Hepatic fibrosis, Molar tooth sign on MRI, Scoliosis OMIM:612285
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis OMIM:300718
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Hepatomegaly, Rhizomelia, Short neck, Patent ductus arteriosus,... ORPHA:1842
Joubert Syndrome 36
Molar tooth sign on MRI, Pectus carinatum OMIM:618763
Warburg Micro Syndrome 3
Cataract, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Brachycephaly, Narrow palat... OMIM:614222
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Atrial septal defec... ORPHA:521308
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormality of the dentition, Kyphosis, Pectus carinatum, Scoliosis, Dolichocephaly ORPHA:1548
Alazami Syndrome
Postnatal growth retardation, Wide mouth, Short philtrum, Widely spaced teeth, Scoliosis, Low-set... ORPHA:319671
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Short stature, Cardiomegaly, Hypoplasia of ... OMIM:182250
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Short neck, Pectus excav... ORPHA:77301
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal ... OMIM:618494
Typical Nemaline Myopathy
Narrow face, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Spinal rigidity, Pectus excavatum... ORPHA:171436
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Thin corpus callosum, Lateral ventricle dil... OMIM:608629
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... ORPHA:1461
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defe... OMIM:614846
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Patent ductus arteriosus, Dysplasti... OMIM:612863
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Postnatal growth retardation, Short stature, Triangular face OMIM:619489
Bronchogenic Cyst
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... ORPHA:2357
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Hemivertebrae, Brachycephaly, Protruding ear, Downturned cor... OMIM:156200
Tyshchenko Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Narrow palate, Cleft palate, High ... OMIM:615102
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux OMIM:619881
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Thin clavicles, Postnatal growth retardation, Thin ribs, Growth delay, Intrauterin... ORPHA:93324
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... OMIM:617744
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal parietal bone morphology, Short stature, Abnormal occipita... ORPHA:249
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... ORPHA:251076
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Lateral cla... OMIM:615630
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Everted lower lip vermilion, Gastroesophageal reflux, Lo... ORPHA:228399
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Short philtrum,... ORPHA:397695
Verheij Syndrome
Branchial cyst, Vertebral fusion, Ventricular septal defect, Short stature, Optic nerve hypoplasi... OMIM:615583
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stat... OMIM:115470
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Frontal bossing, Di... OMIM:200610
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Shor... OMIM:617022
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Short stature, Scoliosis, Hip dislocation OMIM:300434
Gm1-Gangliosidosis, Type Iii
Coarse facial features, Short stature, Kyphosis, Hypoplastic acetabulae, Platyspondyly, Scoliosis... OMIM:230650
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th... ORPHA:444013
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Parietal boss... OMIM:109400
Fadd-Related Immunodeficiency
Ventricular septal defect, Cerebral atrophy, Hepatic fibrosis, Decreased liver function, Pulmonar... ORPHA:306550
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... OMIM:619194
Hurler-Scheie Syndrome
Short stature, Corneal opacity, Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of t... OMIM:607015
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly, Mitral valve prolapse, Cherry red spo... ORPHA:309155
Coccidioidomycosis
Abnormal sperm morphology, Broad skull, Hydrocephalus, Abnormality of the vertebral column ORPHA:228123
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Mild pos... ORPHA:168549
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Abnormal rib morphology, ... ORPHA:2772
Even-Plus Syndrome
Severe short stature, Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft v... OMIM:616854
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Coarse facial features, Kyphoscoliosis, Cardiomegaly, Protruding tongue, A... ORPHA:324410
Primrose Syndrome
Hypoplasia of the maxilla, Brachycephaly, Knee flexion contracture, Downturned corners of mouth, ... OMIM:259050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Atrial septal... ORPHA:353281
Mmep Syndrome
Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft ORPHA:3434
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Dandy-Walker malformation, Rhizomelia, Hamartoma of tongue, Patent ductus arterios... OMIM:616300
Neurooculorenal Syndrome
Subglottic stenosis, Iris atrophy, Mixed hearing impairment, Dextrocardia, Micrognathia, Postnata... OMIM:620305
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductu... OMIM:606003
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Li... OMIM:300106
Sialidosis Type 2
Coarse facial features, Short stature, Corneal opacity, Kyphosis, Short thorax, Pectus carinatum,... ORPHA:87876
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Sec... OMIM:619951
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil... ORPHA:500150
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Micrognathia, Knee dislocation, Shoulder dislocation, High... ORPHA:536532
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Silver-Russell Syndrome 3
Frontal bossing, Short stature, Postnatal growth retardation, Antecubital pterygium, Low-set ears... OMIM:616489
Hypomelanosis Of Ito
Coarse facial features, Cataract, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, ... OMIM:300337
Joubert Syndrome 7
Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, Scoliosis, Molar tooth sign on M... OMIM:611560
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Aplasia/Hypoplasia of the earlo... ORPHA:1555
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:609053
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Missing ribs, Micrognathia, Abnormal rib morphology, Oro... ORPHA:3301
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... ORPHA:60015
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lumbar ver... OMIM:253220
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Pectus c... OMIM:619472
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop... OMIM:613724
Distal Deletion 15Q
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Short stature, Abnormality of th... ORPHA:1596
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification, Dysphagia OMIM:618317
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Short stature, Cleft palate, Narrow mouth ORPHA:93946
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Distal Deletion 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment ORPHA:1620
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Orofacial cleft, Vertebral segmentation defect, Abnormal sternum... ORPHA:2990
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Atelis Syndrome 2
Frontal bossing, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Supr... OMIM:620185
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Cleft palate, Protruding ear, Pulmo... OMIM:619123
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Triangular face, Short stature, Rhizomelia, Micrognat... OMIM:613848
White Forelock With Malformations
Atrial septal defect, Deep philtrum, Spina bifida occulta, Abnormal palate morphology ORPHA:2475
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Temple-Baraitser Syndrome
Wide mouth, Downturned corners of mouth, Thick vermilion border, Gastroesophageal reflux, Pulmoni... OMIM:611816
Ogden Syndrome
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Coarse facial features, Ventricu... ORPHA:276432
Localized Scleroderma
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... ORPHA:90289
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Facial asymmetry, Short neck, Postnatal growth retardation, Brachycephaly, Thin ve... OMIM:614800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Fraser Syndrome 1
Encephalocele, Subglottic stenosis, Laryngeal stenosis, Abnormal pinna morphology, Corneal opacit... OMIM:219000
Cdkl5-Deficiency Disorder
Kyphosis, Deep philtrum, Growth delay, Thick vermilion border, Everted lower lip vermilion, Scoli... ORPHA:505652
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Irregular acetabular roof, Coarse facial features, Thickened aortic ... OMIM:619698
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Hypoplasi... OMIM:619909
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... OMIM:601357
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Neutrophilia, Ab... ORPHA:79139
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Scoliosis, Narrow mout... OMIM:615381
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Williams Syndrome
Narrow face, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Abnormal form of the vertebral bo... ORPHA:904
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic val... OMIM:617660
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hepatomegaly, Ventricular septal defect,... OMIM:616651
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Short stature, Small abnormally formed scap... ORPHA:140
Chromosome 2P16.1-P15 Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Short stature, Kyphoscoliosis, Pectus excavat... OMIM:612513
Down Syndrome
Aganglionic megacolon, Ventricular septal defect, Short stature, Protruding tongue, Complete atri... OMIM:190685
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum ORPHA:94066
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coarse facial features, Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplas... OMIM:300232
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, D... OMIM:166220
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar glio... ORPHA:79243
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Zechi-Ceide Syndrome
Cleft lip, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, Oligodontia, Thi... ORPHA:217017
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... OMIM:613795
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morphology, Corneal opac... ORPHA:2323
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Thin ribs, Hypoplastic spleen, Ankyloglossia OMIM:602361
Noonan Syndrome 11
Short stature, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:618499
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary ... ORPHA:75389
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Microcephaly, Situs inv... ORPHA:991
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment, Severe short stature, Carious teeth, Platyspondyly, Scoliosis, Thickene... OMIM:126550
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Short stature, Thick lower lip vermilion, Wide mouth, Short philtrum, A... OMIM:616938
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... OMIM:143095
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, High palate, Short stature ORPHA:1035
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Growth delay, Short stature ORPHA:52056
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short stature, Micrognathia, Carious teeth, Postnatal growth retardation, Retrognathia, Growth de... OMIM:613026
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia, Focal T2 hyperintense thalamic lesion OMIM:619046
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor... ORPHA:1532
Cog1-Cdg
Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation defect, High p... ORPHA:263508
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, High palate, Short ph... OMIM:609944
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay OMIM:300804
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... ORPHA:93941
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Micrognathia, Postnatal growth retardation, Cleft palate, High palate, Short philt... ORPHA:96184
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroeso... ORPHA:567
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Craniosynostosis, Ectopia lentis, Pectus excavatum, Kyphosis, High, narrow pala... OMIM:616914
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Cleft upper lip, Cleft palate, Thin vermilion border, S... OMIM:608572
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Lobulated tongue, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... OMIM:613717
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hearing impairment OMIM:618237
Cockayne Syndrome
Lentiglobus, Abnormal dental morphology, Agenesis of permanent teeth, Abnormal cornea morphology,... ORPHA:191
Sialidosis Type 1
Frontal bossing, Coarse facial features, Cataract, Short stature, Corneal opacity, Kyphosis, Sens... ORPHA:812
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Ventricular se... OMIM:615948
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Microcephaly, Patent ductus arteriosus, High ... OMIM:618142
Hydranencephaly
Abnormal corpus striatum morphology, Optic nerve hypoplasia, Abnormal internal carotid artery mor... ORPHA:2177
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... ORPHA:220497
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Downturned c... OMIM:615009
Galloway-Mowat Syndrome 7
Ventricular septal defect, Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft l... OMIM:618348
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Ventricular septal defect, Short neck, Pectus excavatum, Hydrocephalus... OMIM:612582
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Knee flexion contra... OMIM:615290
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Short neck, Atrial septal defect, Bifid uv... OMIM:601808
4Q21 Microdeletion Syndrome
Frontal bossing, Short neck, Abnormality of the dentition, Kyphosis, Growth delay, Downturned cor... ORPHA:238750
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cardiofaciocutaneous Syndrome
Short neck, High palate, Biparietal narrowing, Atrial septal defect, Thickened helices, Long face... ORPHA:1340
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Cleft... OMIM:619895
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Scoliosis, Delayed puberty, Microdont... OMIM:619718
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Micrognathia, Vertebral arch anomaly, High palate, Thin calvarium, Worm... ORPHA:85184
Congenital Myopathy 22A, Classic
Frontal bossing, Thoracic scoliosis, Scapular winging, Dental crowding, Hip contracture, Spinal r... OMIM:620351
Zimmermann-Laband Syndrome 2
Coarse facial features, Short stature, Short neck, Kyphosis, Deep philtrum, Sensorineural hearing... OMIM:616455
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology ORPHA:64754
Gm1 Gangliosidosis
Mandibular prognathia, Frontal bossing, Coarse facial features, Ventricular septal defect, Short ... ORPHA:354
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Coarse facial features, Severe short stature, Abnormal heart valve mor... OMIM:309900
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Low-set ears, Dolichocephaly... OMIM:615433
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... OMIM:620184
Abruzzo-Erickson Syndrome
Atrial septal defect, Cleft palate, Short stature, Abnormal palate morphology ORPHA:921
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Frontal bossing, Turricephaly, Plagiocep... OMIM:613603
Fg Syndrome Type 1
Sacral dimple, Short stature, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrot... ORPHA:93932
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Brachycephaly, Wide... OMIM:608776
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Sensorineural hearing im... OMIM:603116
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Narrow mouth, Brach... ORPHA:261349
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Abnormal pinna morphology, Short stature, Kyphoscoliosis, Short neck, Pect... OMIM:309583
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Pneumon... ORPHA:68
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp... OMIM:305100
2Q31.1 Microdeletion Syndrome
Narrow face, Short neck, Micrognathia, Deep philtrum, Downturned corners of mouth, Vertebral segm... ORPHA:251014
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... OMIM:244460
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Wolf-Hirschhorn Syndrome
Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, S... ORPHA:280
Microphthalmia With Limb Anomalies
Frontal bossing, Sacral dimple, Posteriorly rotated ears, Cleft upper lip, Postnatal growth retar... OMIM:206920
Leopard Syndrome 1
Mandibular prognathia, Limited elbow movement, Short neck, Protruding ear, Pectus carinatum, Spin... OMIM:151100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ... ORPHA:2759
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Sever... OMIM:230500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Cataract ORPHA:1875
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Decreased response to growth hormone stimulation test, Ascending ao... OMIM:619503
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Subglottic stenosis, Thoracic kyphosis, Lumbar interpedicular narrowing, G... OMIM:271510
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus art... ORPHA:77298
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Saul-Wilson Syndrome
Cataract, Short stature, Micrognathia, Pectus excavatum, Hypoplasia of the odontoid process, Sens... OMIM:618150
Spondyloperipheral Dysplasia
Barrel-shaped chest, Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening... OMIM:271700
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal putamen morphology, Abnormal brainstem morpholo... ORPHA:88619
15Q24 Microdeletion Syndrome
Long face, Short stature, Facial asymmetry, Abnormality of the dentition, Postnatal growth retard... ORPHA:94065
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Genu valgum, Downturned co... ORPHA:2983
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Pectus excavatum, Sensorineural hearing impairment, High palat... OMIM:620237
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria OMIM:617757
Mccune-Albright Syndrome
Hearing impairment, Dental malocclusion, Abnormal facial skeleton morphology, Scoliosis, Facial a... ORPHA:562
Poland Syndrome
Encephalocele, Dextrocardia, Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosi... ORPHA:2911
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Micrognathia, Pectus excavatum, Postnatal growth retardation, Conical... OMIM:263750
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, High p... OMIM:620369
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Neuroferritinopathy
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... ORPHA:157846
Al-Gazali-Bakalinova Syndrome
Short neck, Pectus excavatum, Pectus carinatum, Hypoplasia of the corpus callosum, Molar tooth si... OMIM:607131
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Cerebral calcification, Intestinal malrotation, Aqueductal stenosi... ORPHA:3035
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Absent o... ORPHA:66637
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... OMIM:259450
De Barsy Syndrome
Recurrent sinopulmonary infections, Cerebellar vermis hypoplasia, Ventricular septal defect, Shor... ORPHA:2962
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Short stature, Absent septum pellucidum, Hyperlordos... OMIM:618870
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Round face, Coarse facial features, Short neck, Pectus excavatum, Anterior scalloping of vertebra... OMIM:611717
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Thick lowe... OMIM:618950
Mucopolysaccharidosis, Type Vi
Pectus carinatum, Broad ribs, Anterior wedging of L1, Lumbar hyperlordosis, Short stature, Anteri... OMIM:253200
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Hearing impairment ORPHA:101075
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Hydrocephal... OMIM:218350
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased ner... ORPHA:485421
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Zimmermann-Laband Syndrome 3
Coarse facial features, Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bi... OMIM:618658
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protruding ear, Thick... OMIM:300966
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Microcephaly, Scoliosis, Atrial septal defect, Periventricular leukoma... ORPHA:357225
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Posteriorly rotated ears, Short stature, Postnatal growth retardation,... OMIM:620113
Renpenning Syndrome 1
Mandibular prognathia, Narrow face, Micrognathia, Brachycephaly, Protruding ear, High palate, Sho... OMIM:309500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Abnormal cortical gyration, Patent ductus arteriosus, Axonal loss, ... OMIM:616867
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Localized hypoplasia of denta... ORPHA:73223
Noonan Syndrome 8
Ventricular septal defect, Short stature, Short neck, Patent ductus arteriosus, Pleural effusion,... OMIM:615355
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Multiple joint dislocation, Pectus carinatum, Microcornea, High palate, Microdontia... ORPHA:536467
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Atrial ... OMIM:615582
Frontoocular Syndrome
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect OMIM:605321
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasi... OMIM:604292
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Short stature, Cerebellar vermis hypoplasia, High palate, Hyp... OMIM:619185
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downturned corners of mouth, A... OMIM:618652
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Intrauterine growth ... ORPHA:1506
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Narrow face, Dental crowding, Brachycephaly, Pectus carinatum, High palate... ORPHA:3063
New-Onset Refractory Status Epilepticus
Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Abnormal thalamic MRI signal inten... ORPHA:363558
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Cataract, Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Pos... OMIM:302960
Kagami-Ogata Syndrome
Pursed lips, Frontal bossing, Kyphoscoliosis, Short neck, Micrognathia, Postnatal growth retardat... ORPHA:254519
Tay-Sachs Disease
Cerebellar atrophy, Hypointensity of cerebral white matter on MRI, Optic atrophy, Abnormal thalam... ORPHA:845
Mend Syndrome
Microretrognathia, Sacral dimple, Cataract, Posteriorly rotated ears, Short stature, Micrognathia... OMIM:300960
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... ORPHA:464738
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Short neck, Microcephaly, Anencephaly, Growth delay, High palate, ... ORPHA:96176
Filippi Syndrome
Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Thin vermilion border, S... OMIM:272440
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Patent ductus arteriosus, Cerebral atrophy, Coarctation of aorta, Bell-shaped t... OMIM:614857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Intestinal malrotation, Hamartoma of ton... OMIM:263520
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Microce... OMIM:617397
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Dental malocclusion, Short stature OMIM:259730
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Thickened ribs, Splenomegaly, Recurrent upper respiratory tract infections, Ovoid t... OMIM:252900
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-l... OMIM:185070
Hurler Syndrome
Abnormal clavicle morphology, Recurrent respiratory infections, Hepatomegaly, Abnormal heart valv... ORPHA:93473
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Microtia, Widely sp... ORPHA:2728
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Recur... OMIM:613193
Rauch-Steindl Syndrome
Attached earlobe, Sacral dimple, Short stature, Micrognathia, Prominent crus of helix, Postnatal ... OMIM:619695
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hepatomegaly, Cerebellar vermis hypoplasia, Optic atrophy, Pect... OMIM:619383
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Abnormal dental enamel morphology, Pectus excavatum, Cleft palate, Hypoplasia of... ORPHA:1812
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Autosomal Recessive Spastic Paraplegia Type 53
Pectus carinatum, Kyphosis, Hearing impairment ORPHA:319199
Focal Dermal Hypoplasia
Congenital hip dislocation, Oligodontia, Spina bifida occulta, Iris coloboma, Short stature, Clef... OMIM:305600
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Micrognathia, Thin ribs, Biconcave vertebral bodies, Wormian bones,... OMIM:617952
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... ORPHA:255182
Joubert Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:213300
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Deep philtrum, Paten... ORPHA:163956
Floating-Harbor Syndrome
11 pairs of ribs, Atrial septal defect, Thin upper lip vermilion, Prominent metopic ridge, Poster... OMIM:136140
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Aplasia/Hypoplasia of the cerebellum, Kyphoscoliosis, Hypoplasia ... ORPHA:397709
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... ORPHA:371428
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Accessory oral f... ORPHA:434179
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Mandibular prognathia, Hip contracture, Coarse facial features, Short stature, Kyphosis, Elbow fl... OMIM:618493
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Short stature, Downt... OMIM:617360
17Q12 Microduplication Syndrome
Atrial septal defect, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects,... OMIM:620070
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Abnor... ORPHA:2308
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Hydrocephalus, Patent ductus arteriosus, Kyphosis, Aplasia/... ORPHA:1860
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Abnormal optic disc morphology, Thoracic k... ORPHA:508498
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Short stature, Postnatal growth retardation, Broad secondary alveolar ... ORPHA:3369
Chondrodysplasia Punctata, Autosomal Dominant
Frontal bossing, Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal grow... OMIM:118650
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta OMIM:140850
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Cryptorchidism, Tetralogy of Fallot, Anal atresia ORPHA:1381
Caudal Duplication
Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebr... ORPHA:1756
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Short stature, Dental crowding, Micrognathia, Postnatal growth... ORPHA:813
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard palate, Recu... OMIM:619314
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ... OMIM:235510
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... ORPHA:284169
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Cataract, Kyphosis, Sensorineural hearing impairment, Orofac... ORPHA:79107
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Situs inversus totalis, Narrow mouth, Mandibular aplasia, Micr... ORPHA:990
Noonan Syndrome 14
Scapular winging, Coarse facial features, Posteriorly rotated ears, Short stature, Short neck, Pe... OMIM:619745
Fibrochondrogenesis
Round face, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Narrow mout... ORPHA:2021
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... OMIM:122600
Jeune Syndrome
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Aplasia/Hypop... ORPHA:474
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Bicuspid aortic valve, Mild postnatal growth retardation, Micrognathia, De... OMIM:150230
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thora... OMIM:619636
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Pectus excavatum, Complete atrioventricular canal defect, Kyphosis... ORPHA:476126
Kyphomelic Dysplasia
Anterior rib cupping, Micrognathia, Lateral clavicle hook, Cleft upper lip, Disproportionate shor... OMIM:211350
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Short neck, Pectus carinatum, Leukopenia, Macrovesicular hepatic steatosi... OMIM:617303
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of the... OMIM:612394
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Ventricular septal def... OMIM:615673
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Gastrointestinal inf... ORPHA:397
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Round face, Kyphosis, Thin ribs, Platyspondyly, Decreased calvarial ossifica... OMIM:610915
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Tetralogy of Fallot, Cleft palate, Acute leukemia, ... ORPHA:3474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gastrointestinal dysmotility, Vertebral segmentation defect, High palate, ... ORPHA:453499
Sandhoff Disease
Kyphosis, Hearing impairment ORPHA:796
Perlman Syndrome
Distal ileal atresia, Pancreatic islet-cell hyperplasia, Interrupted aortic arch, Volvulus, Agene... OMIM:267000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxa... ORPHA:93360
Pallister-Hall Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:146510
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... OMIM:220500
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... OMIM:618205
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Facial asymmetry, Short neck, Sensorineural hearing impairment, Abnorma... OMIM:118100
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Sho... OMIM:609654
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, I... OMIM:610443
Acute Disseminated Encephalomyelitis
Viral hepatitis, Hypointensity of cerebral white matter on MRI, Abnormal brainstem MRI signal int... ORPHA:83597
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypopl... ORPHA:2318
Fetal Alcohol Syndrome
Thin upper lip vermilion, Short stature, Non-midline cleft lip, Cleft palate, Atrial septal defec... ORPHA:1915
Mirror Movements 3
Situs inversus totalis OMIM:616059
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Hearing impairment ORPHA:101078
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Short stature, Optic nerve hypoplasia, Short neck, Pectus excavatum, P... OMIM:617506
Opitz Gbbb Syndrome
Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ovale, Agenesis ... ORPHA:2745
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short stature, Paten... ORPHA:457193
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Spontaneous hemolytic ... ORPHA:168577
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Frontal bossing, Posteriorly rotated ears, Hyperlordosis, Kyphosis, High p... OMIM:617011
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Tarp Syndrome
Meckel diverticulum, Cerebellar vermis hypoplasia, Pectus excavatum, Hepatic failure, Subdural he... OMIM:311900
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Vertebral fusion, Scapular winging, ... OMIM:272460
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Coarse facial features, Cataract, Short stature, Hyperlordosis, Kyphosis, Sensorineural hearing i... ORPHA:3085
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Ruvalcaba Syndrome
Short stature, Dental crowding, Kyphosis, Narrow chest, Scoliosis, Delayed puberty, Limited elbow... OMIM:180870
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductu... ORPHA:90308
Myopathy, Centronuclear, 2
Scapular winging, Hyperlordosis, Kyphosis, High palate, Scoliosis, Intrauterine growth retardatio... OMIM:255200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Pulmonic stenosi... OMIM:618223
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cerebral calcification, Microcephaly, Splenomegaly, ... OMIM:251290
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, ... OMIM:206900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Megaloblastic anemia, Optic atrophy, Stroke, Atrial sep... ORPHA:49827
Radio-Renal Syndrome
Severe short stature, Short neck, Micrognathia, High, narrow palate, Abnormality of the elbow, Ab... ORPHA:3015
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Short neck, Abnormal lung lobati... ORPHA:508488
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Abnor... ORPHA:1300
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Abnormal facial shape, Dolichocephaly OMIM:618512
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Ventricular septal defect, Short stature, Micrognathia, Cleft palate, G... OMIM:613309
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Posteriorly rotated ears, Short stature, Micrognathia, Short neck, Postnatal growth ret... OMIM:257300
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Broad alveolar ridges, Short stature OMIM:314320
Distal Deletion 10Q
Scapular winging, Lumbar hyperlordosis, Short stature, Microcephaly, Pectus excavatum, Postnatal ... ORPHA:96148
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Short stature, Short neck, Micr... OMIM:617452
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Short stature, Short neck, Cleft upper lip, Hemivertebrae, Rib... ORPHA:1394
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he... OMIM:268310
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Recurrent respiratory infections, Short stature, Bronchiectasis OMIM:612650
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Eiken Syndrome
Short stature, Persistence of primary teeth, Thick lower lip vermilion, Flat acetabular roof, Eru... OMIM:600002
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Mola... OMIM:615665
Al Kaissi Syndrome
Thin upper lip vermilion, Macrodontia, Short stature, Postnatal growth retardation, High, narrow ... OMIM:617694
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Postnatal growth retardatio... OMIM:300963
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short stature OMIM:113301
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Proportionate short stature, Patent ductus arteriosus, Aortic root aneurysm, Chia... ORPHA:404443
Blomstrand Lethal Chondrodysplasia
Natal tooth, Cataract, Rhizomelia, Aplastic clavicle, Micrognathia, Broad clavicles, Protruding t... ORPHA:50945
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Pulmonic stenosis, Scolio... OMIM:615279
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Abnormal facial shape, Abno... ORPHA:508533
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Microdontia, Hypoplasia of the maxilla, Cariou... OMIM:129900
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal pinna morphology, Symblepharon, Short neck, Abnormal rib morphology, Retrognathia, Spina... ORPHA:488434
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ... OMIM:614874
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Abnormal heart morphology, Wide mouth, Thin vermilion border, Abnormal tricu... ORPHA:485405
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Kyphosis, High, narrow palate, Shoulder dislocation, Scoliosis, Umbilical hernia ORPHA:2181
Mend Syndrome
Sacral dimple, Cataract, Short stature, Abnormal auditory evoked potentials, Micrognathia, Asymme... ORPHA:401973
Restrictive Dermopathy 2
Microretrognathia, Intrauterine growth retardation, Hypoplastic facial bones, Short clavicles OMIM:619793
Ramon Syndrome
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Axenfel... OMIM:266270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Short neck, Irregular vertebral endplates, High palate, Flar... OMIM:271640
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Short stature, Clef... ORPHA:261236
Orofaciodigital Syndrome V
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... OMIM:174300
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Long face, Cataract, Delayed eruption... ORPHA:90321
Fraser Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Subglottic stenosis, Laryngeal stenosis, Dental... ORPHA:2052
Marfan Syndrome
Narrow face, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus c... ORPHA:558
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal... ORPHA:261330
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypo... OMIM:613001
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... ORPHA:513456
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malformation, Encephalomalacia, ... OMIM:615879
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly, Hypoplasia ... OMIM:618325
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Missing ribs, Dolic... OMIM:200980
Cartilage-Hair Hypoplasia
Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Neutropenia, H... ORPHA:175
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Insulin-Like Growth Factor I Deficiency
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Intr... OMIM:608747
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... OMIM:618506
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short stature, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vert... OMIM:618395
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Ventricular septal defect, Short stature, Microcephaly, Esopha... OMIM:301030
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Optic disc colo... OMIM:608091
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly... OMIM:619980
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... OMIM:612530
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern, Growth delay, Abnormal ce... ORPHA:411493
Noonan Syndrome 7
Short stature, Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Growth delay, Impair... OMIM:613706
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Secondary microcephaly, Cerebellar hy... OMIM:613730
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Abnormal thalamic MRI signal intensity, Ab... ORPHA:70595
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Cryptorchidism, Growth delay, High palate, Short philtrum, Tetralogy o... ORPHA:3306
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... OMIM:610168
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:614114
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Gastroesophageal reflux, Long philtrum ORPHA:466926
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Warsaw Breakage Syndrome
Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Intrauterine gr... OMIM:613398
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Growth delay, Pulmonary h... ORPHA:139466
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Anterio... OMIM:617159
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Gastroesophageal reflux, Left superior vena c... OMIM:611961
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Frontal bossing, Narrow joint spaces of the elbow, Dental crowding, Delayed closure of the anteri... ORPHA:96182
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Short thorax, Abnormal rib mo... ORPHA:261344
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Abnormality of the dentition, Recurrent pneumonia, Bronchiectas... OMIM:618282
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Craniosynostosis, Short neck, External ear malfo... ORPHA:254346
Monosomy 9P
Trigonocephaly, Micrognathia, Short neck, Narrow mouth, Abnormality of the dentition, Abnormal ri... ORPHA:261112
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Tented upper lip vermilion, Bicuspid aortic valve, Exaggerated cupid's bow, Dilation of Virchow-R... OMIM:619720
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short stature, Hip subluxation, Kyphosis, Bilateral camptodactyly, Prot... OMIM:619557
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Abnorma... ORPHA:293843
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Midface retrusion, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Coarse facial ... OMIM:151210
Meningioma
Back pain, Enlarged pituitary gland, Papilledema, Facial palsy, Cerebral hemorrhage, Reduced circ... ORPHA:2495
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Abnormal heart morphology, Downturned corners of mouth,... ORPHA:369891
Monosomy 22Q13.3
Sacral dimple, Dental crowding, Dental malocclusion, Umbilical hernia, Dolichocephaly, Malar flat... ORPHA:48652
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Severe short stature, Ventricular septal defect, Short stature, Narrow ... OMIM:270450
Achondroplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hearing impairment, Hip joint hypermobility, K... ORPHA:15
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Williams-Beuren Syndrome
Bicuspid aortic valve, Microdontia, Atrial septal defect, Short stature, Blue irides, Pulmonic st... OMIM:194050
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Holoprosencephaly
Short neck, Abnormality of the spleen, Abnormal form of the vertebral bodies, Gastroesophageal re... ORPHA:2162
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Exaggerated cupid's bow, Pectus excavatum, Postnatal growth retard... ORPHA:254528
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, Pectus excavatum, High pal... OMIM:614437
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... ORPHA:199302
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Short... OMIM:617925
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology,... ORPHA:163961
Bohring-Opitz Syndrome
Bilateral cleft palate, Sacral dimple, Ventricular septal defect, Intestinal malrotation, Short s... OMIM:605039
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Short stature, Hamartoma of tongue, Cleft palate, Abnormal heart mo... ORPHA:2754
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Cerebral calcification, Short neck, Pectus carinatum, Leukopenia, Thoracic kyphosis, Atrial septa... ORPHA:505248
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... ORPHA:141127
Toriello-Carey Syndrome
Abnormal pinna morphology, Short stature, Micrognathia, Short neck, Postnatal growth retardation,... ORPHA:3338
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Frontal bossing, Posteriorly rotated ears, Bicuspid aortic valve, Short stature, Short neck, Pect... OMIM:613563
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia OMIM:119580
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Pectus carinatum, Thoracic kyphosis, Genu varum, Cervical platysp... ORPHA:93314
Branchiooculofacial Syndrome
Micrognathia, Short neck, Conductive hearing impairment, Hypoplastic superior helix, Iris colobom... OMIM:113620
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect,... ORPHA:2538
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... OMIM:618354
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short stature, Short neck, Pectus excavatum, ... OMIM:300472
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Patent foramen ovale OMIM:617182
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Abnormal pupil morphology, De... ORPHA:534
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Kyphosis, Ankle clonus, Scoliosis, Hearing impairment OMIM:614409
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Delayed closure of ... OMIM:225410
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vert... ORPHA:73230
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Coarse facial features, Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Kypho... OMIM:617527
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Post... OMIM:610198
Aymé-Gripp Syndrome
Brachycephaly, Oligodontia, Megalocornea, Prominent metopic ridge, Short stature, Pericardial eff... ORPHA:1272
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disp... OMIM:608681
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Ruvalcaba Syndrome
Dental crowding, Kyphosis, Narrow mouth, Abnormality of the elbow, Pectus carinatum, Thin vermili... ORPHA:3121
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Patellar hypoplasia, Pe... OMIM:114290
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Hearing impair... ORPHA:2578
Recombinant 8 Syndrome
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Patent ductus arteriosu... ORPHA:96167
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Pectus carinatum, Broad ribs, Rhizomelia, Hypoplasia of the... ORPHA:239
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum ORPHA:1295
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Patent ductus arteriosus, Cle... OMIM:244300
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung age... OMIM:611812
Wrinkly Skin Syndrome
Congenital hip dislocation, High palate, Microdontia, Microretrognathia, Scapular winging, Short ... OMIM:278250
Noonan Syndrome 10
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Patent ductus arteriosus,... OMIM:616564
Anophthalmia Plus Syndrome
Cleft palate, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate ORPHA:1104
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Short... OMIM:605275
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic val... ORPHA:459061
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Sacral dimple, Ventricular septal defect, Short stature, Short neck, Microcephaly, Aplasia/Hypopl... ORPHA:505237
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Hypoplastic scapulae, Anterior concavity of ... OMIM:309350
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Panacinar emphysema, Bronchiectasis, Gastric varix, Chronic bronchitis OMIM:613490
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervica... OMIM:214300
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cataract, Underfolded helix, S... OMIM:268400
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Arthrogryposis And Ectodermal Dysplasia
Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Brachycephaly,... OMIM:601701
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar verm... OMIM:243910
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:252920
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal pinna morphology, Prominent occiput, High palate, Hypoplasia of the zygomatic bone, Low-... ORPHA:556955
Aceruloplasminemia
Refractory anemia, Abnormal dentate nucleus morphology, Abnormal pancreas morphology, Abnormal th... ORPHA:48818
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Delayed eruption of permanent teeth, Narrow mouth, Atrial septal defect, Microdontia, Open mouth OMIM:619356
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Neutro... OMIM:105650
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum, Atrophy/Degeneratio... OMIM:616277
Tarp Syndrome
Extramedullary hematopoiesis, Pectus excavatum, Optic atrophy, Abnormal corpus callosum morpholog... ORPHA:2886
Prolidase Deficiency
Micrognathia, Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal facial shape... ORPHA:742
Hurler Syndrome
Short neck, Endocardial fibroelastosis, Microdontia, Short stature, Hypoplasia of the odontoid pr... OMIM:607014
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, Coarct... ORPHA:2008
Femoral-Facial Syndrome
Limited elbow movement, Micrognathia, Hemivertebrae, Abnormal facial shape, Dysplastic sacrum, Sh... OMIM:134780
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Short statur... ORPHA:289157
Intellectual Disability-Strabismus Syndrome
Short stature, Decreased response to growth hormone stimulation test, Short neck, Microcephaly, P... ORPHA:363528
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, Barrett eso... ORPHA:1199
X-Linked Hypophosphatemia
Frontal bossing, Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral... ORPHA:89936
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Panhypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Gas... OMIM:614961
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect, Narrow m... OMIM:245552
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Growth delay, Short stature ORPHA:1667
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Microcephaly, Pulmona... OMIM:300998
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Kyphosis, Sensorineural hearing impairment, Hip disl... ORPHA:464282
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Recurrent upper respiratory tr... ORPHA:3078
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Ever... OMIM:620075
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Micrognathia, Kyphosis, Sensorineu... ORPHA:521426
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi... ORPHA:2167
Aase-Smith Syndrome I
Open mouth, Hydrocephalus, Ventricular septal defect, Cleft palate OMIM:147800
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect OMIM:616816
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Splenomegaly, Recurrent upper respiratory tract inf... OMIM:252930
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Microcephaly, Cerebral atrophy, Chiari type I malformation, Gastroesop... OMIM:617635
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Microlissencep... OMIM:210710
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, High palate, Thin ribs ORPHA:456328
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Leukemia, Poly... OMIM:602501
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Short stature, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormal... ORPHA:1052
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Growth delay, Short stature OMIM:620211
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, High, narrow palate, Short stature, Scoliosis OMIM:618124
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:616481
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... OMIM:243150
Baralle-Macken Syndrome
Kyphosis, Cataract, High, narrow palate OMIM:619255
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, M... OMIM:169400
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Short neck, Bell-shaped thorax, Disproportionate... ORPHA:1425
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate OMIM:243440
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... ORPHA:79500
Cat-Eye Syndrome
Short stature, Abnormal rib morphology, Intrauterine growth retardation, Iris coloboma, Hearing i... ORPHA:195
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Corneal opacity, Postnatal growth retardation, Hip dislocation, Protruding ear, D... OMIM:616603
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic scapulae, Long clavicles, Distal symphalangism, Postnatal growth retardation, Thin cl... OMIM:210720
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short stature, Hyperlordosis, Mitral valve prolapse, Pectus carinatum, Gastroesophageal reflux, H... OMIM:300986
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, ... OMIM:270400
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95512
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Short philtrum... OMIM:619143
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Poorly ossified vertebrae, ... OMIM:619135
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Lateral clavicle hook, Abnormal shoulder morphology, Atrial septal ... OMIM:274000
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Larsen Syndrome
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Short stature, Pectus excavatum, ... OMIM:150250
Juberg-Hayward Syndrome
Severe short stature, Abnormality of the elbow, Abnormal rib morphology, Orofacial cleft, Radioul... ORPHA:2319
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pectus carinatum, P... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pectus carinatum, P... ORPHA:363958
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
X-Linked Intellectual Disability, Cabezas Type
Short stature, Down-sloping shoulders, Camptodactyly of finger, Short neck, Open bite, Kyphosis, ... ORPHA:85293
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thick upper lip vermilion OMIM:611087
Aspergillosis
Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, H... ORPHA:1163
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Aortic root aneurysm, Scoliosis, A... OMIM:301039
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium, Triangular face ORPHA:2771
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Short stature, Microcephaly, Gastroesophageal reflux, Hypoplastic left hea... OMIM:619721
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterine growth r... ORPHA:60041
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub... ORPHA:457279
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Pe... OMIM:618161
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Short stature, Non-midline cleft lip, Cle... ORPHA:1770
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnormalit... ORPHA:2907
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Dysphagia, Cardiomyopathy, High palate, ... OMIM:616866
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Cleft palate,... OMIM:612562
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Short stature, Patent ductus arteriosus, Cleft ... ORPHA:2473
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypertrophic cardiomyopathy, Scoliosis OMIM:618234
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... OMIM:613808
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Optic atrophy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum,... ORPHA:79279
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Aplastic clavicle... ORPHA:2658
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Pectus excavatum, Pylo... OMIM:147791
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyphoscoliosis, K... ORPHA:457359
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Abnormality of the vertebral colum... OMIM:276950
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Short neck, Micrognathia, Post... ORPHA:1655
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp... OMIM:300000
Fryns Syndrome
Ectopic pancreatic tissue, Short neck, Atrial septal defect, Broad ribs, Agenesis of corpus callo... OMIM:229850
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Short stature, Accessory oral frenulum, Hypoplasia of teeth, Restrictive cardiomyopathy, Patent f... ORPHA:88630
Smith-Lemli-Opitz Syndrome
Sclerocornea, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Biparietal narrowi... ORPHA:818
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Weaver Syndrome
Mandibular prognathia, Round face, Flat occiput, Kyphosis, Retrognathia, Joint contracture of the... OMIM:277590
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Short stature,... OMIM:145420
Mosaic Trisomy 1
Hepatic agenesis, Thoracic scoliosis, Cerebellar vermis hypoplasia, Ventricular septal defect, Cl... ORPHA:1692
Al-Raqad Syndrome
Atrial septal defect, Thin upper lip vermilion, Narrow mouth OMIM:616459
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... OMIM:613610
Joubert Syndrome 8
Occipital encephalocele, Optic disc pallor, Hepatomegaly, Prolonged neonatal jaundice, Molar toot... OMIM:612291
Pseudoachondroplasia
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Spatulate ribs, Hypoplasia o... OMIM:177170
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Mitral valve prolapse, High palate, Narrow mouth, Patent foramen ovale, Long phi... OMIM:615539
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Frontal bossing, Short stature, Micrognathia, Broad clavicles, Abnormality... OMIM:151050
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Corneal ulcerat... OMIM:153400
Adams-Oliver Syndrome 6
Ventricular septal defect, Esophageal varix, Truncus arteriosus OMIM:616589
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, High ... OMIM:619542
Srd5A3-Cdg
Cataract, Kyphosis, Abnormal sacrum morphology, Oligodontia, Abnormal facial shape, Hearing impai... ORPHA:324737
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Cleft palate, Hypoplastic... ORPHA:2347
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Patent ductus arteriosus, Rectal... ORPHA:79076
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel... OMIM:193500
Fanconi Anemia, Complementation Group F
Sacral dimple, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, M... OMIM:603467
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, C... OMIM:620024
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation ORPHA:2143
Focal Dermal Hypoplasia
Acute hepatic failure, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia... ORPHA:2092
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... ORPHA:206448
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Narrow chest, Shor... OMIM:617746
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Abnormal rib morphology, Abnor... ORPHA:2519
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Scoliosis, Abnormal facial shape ORPHA:79327
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Patent ductus ... ORPHA:1517
Fucosidosis
Coarse facial features, Corneal opacity, Cardiomegaly, Abnormality of the dentition, Kyphosis, Br... ORPHA:349
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Achondrogenesis, Type Ia
Barrel-shaped chest, Turricephaly, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short n... OMIM:200600
Microform Holoprosencephaly
Tented upper lip vermilion, Short stature, Cleft palate, Orofacial cleft, Short philtrum, Holopro... ORPHA:280200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Coarse facial features, Cardiomegaly, Pectus excavatum, Dolichocephaly, Thin ribs, Lumbar hemiver... ORPHA:2463
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... ORPHA:2328
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Dental crowding, Micrognathia, Kyphosis, Plagiocephaly, High palate, Thick vermi... OMIM:619005
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Cerebral atrophy, Anemia, Gastroesophageal reflux, ... OMIM:230900
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Microcephaly, Patent ductus arte... ORPHA:452
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Short stature, Cataract, Pectus excava... ORPHA:3042
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Abnormal calcification of t... OMIM:271665
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Short neck, Secondary ... OMIM:620073
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Thick ... OMIM:618027
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Atrial septal defect, Intrau... OMIM:620327
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Microcephaly, Patent duc... ORPHA:2637
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Dysphagi... OMIM:207950
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, Widely spaced... ORPHA:309282
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
11 pairs of ribs, Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Short neck, Hyd... OMIM:245600
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Dental crowding, Cryptorchidism, Pierre-Robin sequence, Cleft palate, ... OMIM:617201
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... ORPHA:894
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Cleft palate, Growth delay, Thick vermilion... ORPHA:447980
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... OMIM:244400
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Open mouth, Tented upper lip vermilion, Wide mouth ORPHA:500533
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral en... OMIM:187760
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Patent foramen ovale, Smooth philtrum, Long philtrum OMIM:618821
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Protruding ear, High palate, Atrial septal defect, Abnormal dental pulp ... ORPHA:363700
Kbg Syndrome
Vertebral fusion, Round face, Tented upper lip vermilion, Posteriorly rotated ears, Short stature... OMIM:148050
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu... OMIM:600460
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Wide m... OMIM:617450
Peroxisome Biogenesis Disorder 5A (Zellweger)
High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary ... OMIM:614866
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Microcephaly, Postnatal growth retardation, Patent duc... ORPHA:1465
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly OMIM:617767
Amish Lethal Microcephaly
Hepatomegaly, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Optic ... ORPHA:99742
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Hearing impairment ORPHA:99014
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Short stature, Wide mouth, Long philtrum, Atrial septal defect,... ORPHA:1292
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... OMIM:620183
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:220386
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis, Hearing impairment OMIM:610743
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93924
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral seg... ORPHA:1836
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase ... OMIM:608779
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Smooth tongue, Pursed lips, ... OMIM:601559
Dominant Beta-Thalassemia
Frontal bossing, Malar prominence, Abnormality of the dentition, Dilated cardiomyopathy, Genu val... ORPHA:231226
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Round face, Wide cranial sutures, Short stature, Rhizomelia, Protrusio ac... OMIM:610682
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Short stat... OMIM:300707
Kleefstra Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera... ORPHA:261494
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left ... OMIM:619562
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P... ORPHA:93351
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibr... OMIM:610688
Coach Syndrome 3
Molar tooth sign on MRI, Portal fibrosis, Anemia OMIM:619113
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ch... ORPHA:2331
Frontofacionasal Dysplasia
Cataract, Cleft upper lip, Brachycephaly, Orofacial cleft, Microcornea, Bifid uvula, Midface retr... OMIM:229400
Coffin-Siris Syndrome 1
Conical tooth, Brachycephaly, Short philtrum, High palate, Microdontia, Atrial septal defect, Spi... OMIM:135900
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, ... OMIM:619179
Ullrich Congenital Muscular Dystrophy 1
Round face, Spinal rigidity, Kyphosis, Hip dislocation, Protruding ear, Increased laxity of ankle... OMIM:254090
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se... OMIM:117550
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Short stature, Spina bif... ORPHA:84
Osteogenesis Imperfecta, Type Xv
Schizencephaly, Short stature, Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar hypop... OMIM:615220
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Secundum atrial septal defect, Postnatal growth retardation, High palat... OMIM:620242
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Patent ductus arteriosu... OMIM:158170
Jaberi-Elahi Syndrome
Cataract, Kyphosis, Pectus carinatum, Protruding ear, Scoliosis, Low-set ears, Triangular mouth OMIM:617988
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Abnormal form of the vertebral bodies, A... ORPHA:581
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Short stature, Esophageal atresia, Deep philtrum, Cleft palate, Atrial... OMIM:610536
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pectus carinatum, Leukopenia, High palate, Hypoplasia of the thymu... OMIM:612541
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Flat occiput, Brachycephaly, Exencephaly ORPHA:2211
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Witteveen-Kolk Syndrome
Narrow face, Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, Short philtrum, H... OMIM:613406
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth, Short ribs, Narrow chest OMIM:215045
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
Zaki Syndrome
Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Microcephal... OMIM:619648
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... OMIM:300967
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Patent ductus arteriosus, High palate, Atrial septal defect, Intrauterine growth r... OMIM:618005
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Arthrogryposis, Distal, Type 4
Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Scoliosis, Hypop... OMIM:609128
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Microcephaly, Hep... OMIM:208085
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Posteriorly rotated ears, Proboscis, Craniosynostosis, Postnatal ... OMIM:605627
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphosc... ORPHA:230851
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Short stature, Microcephaly, Splenomegaly, Patent ductus arterio... ORPHA:251066
Stankiewicz-Isidor Syndrome
Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, Pineal cyst, Abnormal optic d... OMIM:617516
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Downturned corners o... ORPHA:96147
Mgat2-Cdg
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Ventricular septal defect, Dental cr... ORPHA:79329
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Sacral dimple, Short stature, Abnormal cortical gyration, Paten... OMIM:300968
Proteus Syndrome
Open mouth, Venous malformation OMIM:176920
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Proportionate short stature, Patent d... ORPHA:488618
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Cerebral white matter hypoplasia, High, narrow palate, Cleft palate, Chi... ORPHA:436003
3Mc Syndrome 1
Ventricular septal defect, Dental crowding, Cleft upper lip, Postnatal growth retardation, Cleft ... OMIM:257920
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2234
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent... OMIM:610759
Ulbright-Hodes Syndrome
Abnormal pinna morphology, Short neck, Micrognathia, Postnatal growth retardation, Narrow mouth, ... ORPHA:3404
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Absent brainstem auditory responses, Cardiomegaly, Optic atroph... ORPHA:79330
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Facial palsy, Fused cervical ver... OMIM:607323
White-Sutton Syndrome
Short stature, Optic nerve hypoplasia, Short neck, Microcephaly, Patent ductus arteriosus, Cleft ... OMIM:616364
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Pectus carinatum OMIM:614898
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Growth dela... OMIM:619121
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Postnatal growth retardation, Large placenta, Abnormal heart morpholog... ORPHA:254534
Alzahrani-Kuwahara Syndrome
Frontal bossing, Cataract, Posteriorly rotated ears, Ventricular septal defect, Coronary sinus en... OMIM:619268
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, High palate, Gastroesophageal reflux, Atrial septa... OMIM:607872
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Partial agenesis of the c... OMIM:619480
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, High palate, Hypoplasia of the zygo... ORPHA:989
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Wi... OMIM:614207
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Postnatal growth retardation, P... OMIM:605130
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Conductive... OMIM:218600
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Narrow chest, Atrial septal defect, Conduct... OMIM:304120
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Cleft palate, Anterior... OMIM:309801
Ravine Syndrome
Abnormal auditory evoked potentials, Abnormal brainstem morphology, Abnormal basal ganglia morpho... ORPHA:99852
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydr... OMIM:619512
Dysosteosclerosis
Cerebral calcification, Ventricular septal defect, Short stature, Optic atrophy, Hypoplastic vert... ORPHA:1782
Adams-Oliver Syndrome 5
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Umbilical hernia, Patent foramen o... OMIM:616028
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Nephrotic Syndrome, Type 11
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... OMIM:616730
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... ORPHA:217093
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondy... OMIM:113500
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bodies, Sho... OMIM:244450
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Micrognathia, Postnatal growth retardation, Abnormal ear... ORPHA:96191
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Tented upper lip vermilion ORPHA:896
Noonan Syndrome 13
Mitral valve prolapse, Wide mouth, High palate, Widely spaced teeth, Gastroesophageal reflux, Lon... OMIM:619087
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Short stature, Complete atrioventricular canal defect, ... OMIM:617063
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Short stature, Microcephaly, Simplif... OMIM:616777
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:614034
Noonan Syndrome 9
Short stature, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Growth delay, Prominent occiput, Microtia, Hypoplasia of the zy... OMIM:618500
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Butterfly vertebral arch, Hepatic failu... OMIM:118450
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, High palate, Atrial septal def... OMIM:268300
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Chops Syndrome
Ventricular septal defect, Short stature, Microcephaly, High, narrow palate, Patent ductus arteri... OMIM:616368
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, ... OMIM:617895
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... OMIM:614833
Isolated Exencephaly
Low-set ears, Abnormal calvaria morphology, Abnormal facial skeleton morphology, Hypoplasia of th... ORPHA:563612
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Widely spaced teeth, Abnormal facial shape, Iris coloboma, Short stature, Cleft s... ORPHA:268261
17Q23.1Q23.2 Microdeletion Syndrome
Short stature, Patent ductus arteriosus, Gastroesophageal reflux, Widely spaced teeth, Narrow mou... ORPHA:261279
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ventricular septal defect, Microcephaly, Pectus excavatum, Kyphosis, Patent du... ORPHA:464311
Noonan Syndrome 5
Short stature, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hyper... OMIM:611553
Char Syndrome
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... ORPHA:46627
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Ventricular septal defect, Growth delay, Hypothalamic hamartoma, Thin c... OMIM:619908
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... OMIM:615219
Keutel Syndrome
Recurrent respiratory infections, Short stature, Ventricular septal defect, Pulmonary artery sten... ORPHA:85202
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di... ORPHA:85194
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphan... OMIM:235255
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, Growth delay, High palate, Widely spaced t... OMIM:619762
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... ORPHA:98855
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatic steatosis, Hepatomegaly, Ventricular septal d... OMIM:619418
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hemi... ORPHA:3412
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Hypoplastic right heart, Kyphoscoliosis, Hip dislocation, Retrognathia, Protruding ear,... OMIM:617403
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Intestinal malrotation, Recurren... ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase, Microcephaly OMIM:615160
Beta-Thalassemia Major
Frontal bossing, Malar prominence, Abnormality of the dentition, Dilated cardiomyopathy, Genu val... ORPHA:231214
Roberts Syndrome
Cataract, Craniosynostosis, Short neck, External ear malformation, Micrognathia, Postnatal growth... ORPHA:3103
Orofaciodigital Syndrome Type 1
Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Mi... ORPHA:2750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Frontal bossing, Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, ... OMIM:618019
Alg9-Cdg
Cerebellar atrophy, Hepatomegaly, Villous atrophy, Ventricular septal defect, Rhizomelia, Short n... ORPHA:79328
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Cleft palate, Gastroesophag... OMIM:617164
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter... OMIM:100300
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... ORPHA:98863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Patent ductus arteriosus, Cleft palate, Thin vermilion border, High palate, Gastro... OMIM:614080
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... OMIM:617168
Orofaciodigital Syndrome I
Porencephalic cyst, Lobulated tongue, High palate, Hepatic fibrosis, Agenesis of corpus callosum,... OMIM:311200
Spondylodysplastic Ehlers-Danlos Syndrome
Pectus carinatum, Atrial septal defect, Abnormal vertebral morphology, Agenesis of pineal gland, ... ORPHA:536471
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate ORPHA:2003
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Absent septum pellucidum, Short neck, Microcephaly, Microvesicular hepatic steatosi... OMIM:300868
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, S... OMIM:602782
Cockayne Syndrome Type 3
Cataract, Mild postnatal growth retardation, Carious teeth, Kyphosis, Microcornea, Cardiomyopathy... ORPHA:90324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Craniofacial osteosclerosis, Pect... OMIM:618476
Camurati-Engelmann Disease
Delayed eruption of teeth, Frontal bossing, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial ... ORPHA:1328
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... ORPHA:1900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Brachycephaly, High palate, Short... OMIM:619244
Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Scapular winging, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Dilated ... ORPHA:98853
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Lathosterolosis
Abnormal thoracic spine morphology, Hepatomegaly, Cerebral calcification, Microcephaly, Intrahepa... ORPHA:46059
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... ORPHA:217085
Mucolipidosis Type Ii
Knee flexion contracture, Narrow chest, Conductive hearing impairment, Patent foramen ovale, Prom... ORPHA:576
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Recurrent upper respiratory... OMIM:614963
Megalencephaly
Atrial septal defect ORPHA:2477
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... ORPHA:2671
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Meningocele, Hypoplasia of the olfactory bulb, Retr... ORPHA:1827
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Corneal opacity, Missing ribs, External ear malformation, Calvarial s... ORPHA:1647
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Short philtru... ORPHA:798
Ring Chromosome 7 Syndrome
Mandibular prognathia, Short stature, Prominent crus of helix, Situs inversus totalis, Narrow mou... ORPHA:1449
Hypophosphatasia
Short stature, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology, Narrow chest ORPHA:436
Weill-Marchesani Syndrome
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly, Patent duct... OMIM:618454
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Pectus excavatum, Hydrocephalus, Hypopla... ORPHA:457284
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Dilated cardiomyopathy, Left ventricular noncompaction, Secondar... OMIM:619167
Costello Syndrome
Barrel-shaped chest, Ventricular septal defect, Short stature, Short neck, Pyloric stenosis, Hydr... OMIM:218040
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Hepatomegaly, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short stat... OMIM:252940
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short stature, Elevated c... OMIM:614921
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Pectus excavatum, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, High ... OMIM:618162
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... OMIM:619575
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Abnormality of the d... ORPHA:3071
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis OMIM:606612
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia, Short stature, Micro... ORPHA:464306
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Filippi Syndrome
Severe short stature, Ventricular septal defect, Short stature, Cryptorchidism, Growth delay, Thi... ORPHA:3255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Thin ribs, Platyspondyly, Intrauterin... OMIM:300863
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Pneumonia, Facial palsy, Respiratory tract infection, ... ORPHA:79138
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... ORPHA:231160
Osteopetrosis With Renal Tubular Acidosis
Thickened calvaria, Short stature, Persistence of primary teeth, Micrognathia, Pectus excavatum, ... ORPHA:2785
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, High pal... ORPHA:2720
Lymphatic Malformation 6
Short stature, Pectus excavatum, Splenomegaly, Pleural effusion, Varicose veins, Gastroesophageal... OMIM:616843
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Scoliosis OMIM:618484
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Short stature, Abnormal midbrain morphology, Decreased response to... ORPHA:293987
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent p... OMIM:613177
Peters Plus Syndrome
Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Microcornea, Widely spaced tee... ORPHA:709
Trisomy 8Q
Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... ORPHA:1752
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Short neck, Pectus exc... ORPHA:373
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Short stature, Short neck, Secundum atrial septal defect, Microceph... OMIM:615802
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Kyphosis, Scoliosis OMIM:617435
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Wide mouth, Growth delay, Median... OMIM:619758
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Proportionate short stature, Microcepha... OMIM:613457
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus,... OMIM:612289
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Pallister-Hall Syndrome
Abnormal lung lobation, Hemivertebrae, Gonadotropin deficiency, Holoprosencephaly, Atrial septal ... ORPHA:672
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small pituitary gland, Narrow ... OMIM:619479
Fetal Akinesia Deformation Sequence 1
Hip contracture, Posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Hig... OMIM:208150
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, C... OMIM:610253
Yunis-Varon Syndrome
Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea,... OMIM:216340
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity OMIM:615084
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs OMIM:152800
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Mitral valve calcification, Short stature, Micrognathia, Pectus excavatum, Postn... OMIM:619127
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Pr... ORPHA:529808
Wrinkly Skin Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Short stature, Kyphoscoliosis, Delayed clo... ORPHA:2834
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Pectus excavatum, Pat... OMIM:609942
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Short neck, Brachycephaly, Downturned corners of mou... OMIM:264090
Marinesco-Sjogren Syndrome
Short stature, Kyphosis, Developmental cataract, Scoliosis, Cubitus valgus OMIM:248800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Hyperlordosis OMIM:615156
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short stature, Microcephaly, Recurre... ORPHA:209905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Pectus excavatum, High, narrow palate, Patent ductus arteriosus, Abnormal lun... ORPHA:369837
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, ... OMIM:615633
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Hartsfield Syndrome
Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft palate, Grow... OMIM:615465
Kabuki Syndrome 1
High palate, Atrial septal defect, Recurrent aspiration pneumonia, Abnormal vertebral morphology,... OMIM:147920
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... ORPHA:98755
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Gastroesophageal reflux, Atrial septal defect, Recurrent... ORPHA:280633
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... OMIM:617300
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short neck, Microvesicular he... OMIM:300855
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:2481
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Fanconi Anemia, Complementation Group Q
Short stature, Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Growth delay OMIM:615272
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short... OMIM:620076
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Ventricular septal defect, Prot... OMIM:214100
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Partial anomalous pulmonary... OMIM:301044
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Acromegaly
Mandibular prognathia, Broad jaw, Frontal bossing, Coarse facial features, Abnormality of the den... ORPHA:963
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Hepatic steatosis, ... ORPHA:1606
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... OMIM:113000
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Inc... ORPHA:268810
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pne... OMIM:607143
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Ventricular septal defect, Short stature, Short neck, Micr... OMIM:178110
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Dysphagia, Facial diplegia, Thoracic kyphosis, Gastroesop... ORPHA:70
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal cerebral vascular morphology, Microcephaly, Cleft palate, Holoprosencephaly, Abnormality... ORPHA:2165
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Frontal bossing, Coarse facial features, Abnormality of the den... ORPHA:314769
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platelet ... OMIM:222470
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Microcephaly, Cleft palate, High palate, Cerebellar hypoplasia, Scolios... OMIM:616038
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly... ORPHA:667
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow palate, Dyspha... OMIM:619312
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Macroglossia, Scoliosis OMIM:607155
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Develop... ORPHA:93325
Diamond-Blackfan Anemia 4
Atrial septal defect, Growth delay, Short stature OMIM:612527
Alstrom Syndrome
Short stature, Abnormality of the dentition, Kyphosis, Dilated cardiomyopathy, Gingivitis, Hypero... OMIM:203800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Cupped ribs, Degeneration of anterior hor... ORPHA:1145
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Celiac disease, Dysplastic corpus callosum, Rib ... ORPHA:544488
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Short stature, Microce... OMIM:619869
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Micrognathia, Postnatal growth retardation, Contracture of the distal interphalan... ORPHA:83617
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Cerebellar vermis hypoplasia, Short stature, Mic... OMIM:616975
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, High pal... ORPHA:124
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... OMIM:277900
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Op... OMIM:620025
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Myocarditis, Disproportionate short stature, Abnormal rib morphology... ORPHA:93317
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Pectus excavatum, Splenomegaly, Patent duc... OMIM:618268
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate... OMIM:619103
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Thin vermilion border, Smooth philtrum OMIM:618109
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Craniosynostosis, Kyphosis, Co... OMIM:618050
Vici Syndrome
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,... OMIM:242840
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Peripheral axonal neuropathy, Hype... ORPHA:2822
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Short stature, Reduced cerebral white matter volume, High, narr... OMIM:618076
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Cholelithiasis, Pericardial effusion, Normochromic anemia... OMIM:618775
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... ORPHA:26793
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportiona... OMIM:616482
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Wide mouth, Growth d... ORPHA:217346
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Hyperlordosis, Thoracic platy... ORPHA:457395
Ramos-Arroyo Syndrome
Severe short stature, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,... ORPHA:1051
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Pulmonic stenosis, Umbilical her... OMIM:618914
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... ORPHA:93311
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Short stature, Microcephaly, Submucous cleft hard palate, Cerebral atrophy, A... OMIM:618891
Pyknoachondrogenesis
Craniofacial hyperostosis, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Abnormality ... ORPHA:3003
Prader-Willi Syndrome
Thin upper lip vermilion, Short stature, Dolichocephaly, Carious teeth, Kyphosis, Genu valgum, Do... OMIM:176270
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Partial agenesis of the corpus callosum, Aplas... OMIM:222448
Khan-Khan-Katsanis Syndrome
Sacral dimple, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Shor... OMIM:618460
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Malabsorption, Microcephaly, Pyloric sten... ORPHA:912
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Short neck, High, narrow palate, Gastrointestinal inflammation, Enlarged t... ORPHA:881
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular ca... OMIM:620066
C Syndrome
Fused sternal ossification centers, Hepatomegaly, Ventricular septal defect, Short stature, Micro... OMIM:211750
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Patent ductus arteriosus, Undulate ribs, Splenic cyst, Thin ribs, St... OMIM:618188
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Abnormal mitral va... ORPHA:1969
Rabson-Mendenhall Syndrome
Ventricular septal defect, Dental crowding, Short stature, Abnormality of the dentition, Gingival... ORPHA:769
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity ORPHA:352447
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Cryptorchidism, Short stature, Abnormal stomach morphology ORPHA:281090
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary... ORPHA:54595
Aspartylglucosaminuria
Coarse facial features, Cataract, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick low... OMIM:208400
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Kyphosis, Knee flexion contracture, Dolichocephaly, Absent uvula OMIM:619708
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Kyphoscoliosis, High, narrow palate, Pa... ORPHA:466791
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Woods Syndrome
Thin vermilion border, Ventricular septal defect OMIM:615236
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, Gastr... OMIM:619229
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Turricephaly, Spina bifida, Short neck, Microcephaly, Hydrocephalus, Brachycephaly... OMIM:613776
Atypical Rett Syndrome
Growth delay, Kyphosis, Scoliosis ORPHA:3095
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short stature, Pancreatic fibrosis, Lateral clavicle hook, Thoracic dy... OMIM:615503
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... ORPHA:391487
Genitopatellar Syndrome
Delayed eruption of teeth, Short stature, Gastroesophageal reflux, Pulmonary hypoplasia, Long phi... ORPHA:85201
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Port... OMIM:620005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Bifid ... ORPHA:268249
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Pectus carinatum ORPHA:500180
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricula... OMIM:608670
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... OMIM:309000
Trichothiodystrophy
Periventricular leukomalacia, Ventricular septal defect, Cerebral dysmyelination, Microcephaly, R... ORPHA:33364
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,... OMIM:609616
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Large basal gan... ORPHA:261537
Kindler Epidermolysis Bullosa
Laryngeal stenosis, Turricephaly, Corneal opacity, Abnormal dental enamel morphology, Premature l... ORPHA:2908
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... OMIM:619476
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... OMIM:613404
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Short stature, Muscular ventricular septal defect, Hypoplastic aortic ... OMIM:157800
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Coarse facial features, Long clavicles, Wormian bones, Short neck, Postn... OMIM:269150
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Short stature, Spina bifida, Pectus ex... OMIM:161200
Restrictive Dermopathy 1
Kyphoscoliosis, Thin clavicles, Patent ductus arteriosus, Submucous cleft hard palate, Hydropic p... OMIM:275210
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Meningocele, Short stature ORPHA:2031
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum OMIM:618665
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Cataract, Ventricular septal defect, Corneal opacity, Probosci... ORPHA:141099
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Scoliosis, Low-set ears, Abnormal facial shape, Midface retrusion ORPHA:420794
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... OMIM:203500
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Short stature, Cryptorchidism, Abnormal vena cava morphology, Intraute... ORPHA:166035
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia, Growth delay, Short stature ORPHA:93947
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Large basal gan... ORPHA:261552
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening ORPHA:96190
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... OMIM:607330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Deep philtrum, Pierre-Robin se... OMIM:617137
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Abnormality of the gastrointestinal tract ORPHA:33276
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Iris atrophy, Cataract, Ventricular septal defect, Short stature, Kyphoscoli... OMIM:259770
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... ORPHA:251038
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Short stature, Kyphosis, Xerostomia, Gastroesophageal reflux, S... ORPHA:398069
Pseudoaminopterin Syndrome
Short stature, Pectus excavatum, Asplenia, Hydrocephalus, Sacrococcygeal pilonidal abnormality, P... ORPHA:221120
Occipital Horn Syndrome
Narrow face, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, Ca... OMIM:304150
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short stature, Kyphosis, Sensorineural hearing impairment, Premature loss of... OMIM:239000
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate... ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Short ... OMIM:122470
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Kyphosis, Coarse facial features, Widely spaced teeth OMIM:300942
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Increased overbite OMIM:618504
Proteus Syndrome
Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of the wrist, Long face... ORPHA:744
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the scapulae, Cardiomegaly, High, narrow palate, Glossoptosis, Atrial septa... ORPHA:3472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Short stature, Absent septum... ORPHA:438213
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Short stature OMIM:619115
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Brachycephaly, Narrow chest, Conductive hearing impairment, Abnormal facial ... ORPHA:95699
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... ORPHA:227990
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Short stature, Microcephaly, Aqueductal stenosi... OMIM:154400
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Scoliosis, Atrial septal defect, Primary microce... ORPHA:457351
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroceph... ORPHA:261337
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Short stature, Pectus e... OMIM:235730
21Q22.11Q22.12 Microdeletion Syndrome
Thin upper lip vermilion, Dental crowding, Short stature, Postnatal growth retardation, Thick low... ORPHA:261323
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Thoracic scoliosis, Short stature, Aplasia of t... OMIM:620186
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Secundum atrial septal defec... OMIM:609069
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation OMIM:219730
Foix-Alajouanine Syndrome
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation ORPHA:79093
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... ORPHA:227982
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Megalencephaly, Lipomyelome... OMIM:601707
Pelizaeus-Merzbacher Disease
Kyphosis, Short stature, Scoliosis, Hearing impairment ORPHA:702
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation... OMIM:615873
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Pierre-Robin sequence, Thick lo... OMIM:617557
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Microdontia, Patent ductus arteriosus, Hypodontia OMIM:602482
Holt-Oram Syndrome
Thoracic scoliosis, Ventricular septal defect, Pectus excavatum, Secundum atrial septal defect, P... OMIM:142900
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Optic atr... OMIM:612301
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scapular winging, Scoliosis, Hyperlordosis OMIM:181405
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Pneumothorax, Clef... OMIM:601776
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Pancreatic cysts, Abnormality of the pancreas, Abnor... ORPHA:1318
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, ... OMIM:234050
Teebi-Shaltout Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Cleft palate, Wide mouth, Oligodon... OMIM:272950
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, High, narrow palate, Mitral valve prolapse, Abnormal sternum morphology, High palate, S... OMIM:177850
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestina... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Severe short stature, Ventricular septal defect, Patent ductus ... ORPHA:3047
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Neurofibroma, ... OMIM:162200
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Pontine Tegmental Cap Dysplasia
Pontine tegmental cap, Facial palsy, Rib fusion, Hemivertebrae, Scoliosis, Dysphagia, Hypoplasia ... OMIM:614688
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P... ORPHA:2260
Spondyloocular Syndrome
Duodenal ulcer, Short stature, Mitral valve prolapse, Shield chest, Pectus carinatum, Platyspondy... OMIM:605822
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Thin upper lip vermilion, Wide mouth OMIM:608688
Phocomelia, Schinzel Type
High, narrow palate, Meningocele, Disproportionate short stature, Tracheoesophageal fistula, Clef... ORPHA:2879
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... ORPHA:488632
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Oval face, Narrow mouth ORPHA:261222
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Long philtrum OMIM:207410
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Kyphosis, Protruding ear, Scoliosis, Midface retrusion OMIM:613454
Sillence Syndrome
Back pain, Oval face, Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morpholo... ORPHA:3168
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Microcephaly... OMIM:616268
Oculoectodermal Syndrome
Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Pineal cys... OMIM:600268
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Cerebellar vermis hypoplasia, Ventricular septal defect, Dandy-Walker malformation OMIM:616901
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Elevat... OMIM:619525
Monosomy 13Q34
Hepatic steatosis, Microcephaly, Hematochezia, Growth delay, Pulmonic stenosis, Common atrium, Ag... ORPHA:96168
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle... OMIM:613091
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Kyphosis, Sensorineural hearing impairment, Ankle clonus, Tongue fasciculations, ... OMIM:211530
Laubry-Pezzi Syndrome
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... ORPHA:99094
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Bdv Syndrome
Atrial septal defect, Delayed puberty OMIM:619326
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Kyphosis, Brachycephaly, Plagiocephaly, Scoliosis, Abnormal facial shape, Hearing ... ORPHA:500055
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Growth delay, High palate, Ho... OMIM:613884
Distal Deletion 12Q
Short stature, Kyphoscoliosis, Short neck, Microcephaly, Esophageal atresia, Patent ductus arteri... ORPHA:96149
Atypical Werner Syndrome
Narrow face, Short stature, Micrognathia, Aortic valve calcification, Abnormal thorax morphology,... ORPHA:79474
Ulnar-Mammary Syndrome
Ventricular septal defect, Short stature, Pyloric stenosis, Cryptorchidism, Ectopic anus, Hypodon... ORPHA:3138
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, High palate, Aplasia/Hypoplasia of the... ORPHA:480880
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofac... ORPHA:1519
Classic Homocystinuria
Cataract, Dental crowding, Ectopia lentis, Pectus excavatum, Kyphosis, Pectus carinatum, Genu val... ORPHA:394
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High p... OMIM:309800
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology, Dysgenesi... ORPHA:8
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Gaucher Disease Type 1
Pericardial effusion, Kyphosis, Osteoarthritis, Growth delay, Gingival bleeding, Delayed puberty,... ORPHA:77259
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Cerebral calcification, Ventricular septal defect, Optic atrophy, C... ORPHA:2710
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Frontal bossing, Severe short stature, Corneal opacity, Abnormal dental enamel morphology, Campto... ORPHA:2273
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior border of scapula, Myo... OMIM:250220
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cerebral white matter atrophy, Short stature, Short neck, Secundum atrial septal defect, Lymphang... ORPHA:99646
Rett Syndrome
Kyphosis, Short stature, Scoliosis, Abnormality of the dentition OMIM:312750
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Disproportionate short-limb short stat... OMIM:166210
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Pulmonary fibrosis, Flaring o... OMIM:612852
Fibular Hemimelia
Thrombocytopenia, Thoracoabdominal wall defect, Spina bifida, Abnormal heart morphology ORPHA:93323
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Optic disc pallor, Absent septum pellucidum, Microce... OMIM:267750
Lymphatic Malformation 13
Patent ductus arteriosus, Neonatal death, Long philtrum, Atrial septal defect, Patent foramen ova... OMIM:620244
Distal Deletion 6P
Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atria... ORPHA:96125
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:444077
X Small Rings
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Growth delay, Aortic ... ORPHA:96201
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Cataract, Scoliosis ORPHA:88628
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Short stature, Cleft hard p... OMIM:300990
Severe Congenital Nemaline Myopathy
Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Pulmonary hypoplasia, Dysph... ORPHA:171430
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Ventricular septal defect, Microcephaly, Dilatation of the ventricular cavity, Pul... ORPHA:459070
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Arterial s... ORPHA:565
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Microcephaly, Pectus excavatum, Secundum atrial septal defect, High, narrow... ORPHA:1439
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones OMIM:617821
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Short stature, ... OMIM:619841
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Open bite, Hydrocephalus, Bronchogenic cyst ORPHA:2969
Ablepharon-Macrostomia Syndrome
Microtia, third degree, Microtia, first degree, Short upper lip, Wide mouth, Hypoplasia of the zy... OMIM:200110
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Townes-Brocks Syndrome
Rectoperineal fistula, Short stature, Abnormal pulmonary valve morphology, Patent ductus arterios... ORPHA:857
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... ORPHA:1071
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick vermilion border, Gastro... OMIM:300896
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Cleft palate, C... ORPHA:363611
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Short stature, Short neck, Abnormal sternum morphology, High palate, P... OMIM:607721
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Short stature, Facial palsy, Microcephaly, Pectus excavatum, Celia... OMIM:619325
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Sotos Syndrome
Narrow face, No permanent dentition, Atrial septal defect, Conductive hearing impairment, Abnorma... ORPHA:821
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia ORPHA:93929
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Short stature, Pancreatic fibrosis, L... OMIM:208500
Omodysplasia 1
Ventricular septal defect, Rhizomelia, Short neck, Pulmonary artery stenosis, Disproportionate sh... OMIM:258315
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect, Microcephaly, Postnatal growth retardation, Short neck OMIM:610832
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Short stature, Microcephaly, Recurrent upper respiratory tract infections,... OMIM:308205
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Kyphosis, Scoliosis OMIM:609541
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, High, narrow palate, Protruding ear, Abnormal curvature of the ... OMIM:619475
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Growth delay, High palate, Gastroesophageal reflux, Intrauterine growt... OMIM:614653
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Short stature, Microcephaly, Thrombocytopenia, Reticuloc... OMIM:227645
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Ventricular septal defect, Short neck, Pectus excavatum, Cervical C5/C6 vertebrae ... OMIM:613458
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrophy, ... OMIM:610505
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Short stature, Elev... OMIM:243800
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, High palate, Thin ribs OMIM:300219
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis OMIM:240300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Hamartoma of tongue OMIM:617563
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, Ab... OMIM:182210
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short neck, Pectus excavatum, Microcephaly, Undulate ribs, High palate, Total anomalous pulmonary... OMIM:609945
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period... ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, High palate, Long ear, Broad ribs, Elbow ankylosis, ... OMIM:276820
Congenital Disorder Of Glycosylation, Type Ia
Thin upper lip vermilion, Pericarditis, Pericardial effusion, Kyphosis, Cardiomyopathy, Macrotia OMIM:212065
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Microcephaly, Malrotation of small bowel, Anteriorly pl... OMIM:606170
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Hy... ORPHA:402075
Phakomatosis Pigmentokeratotica
Scoliosis, Pheochromocytoma, Spina bifida ORPHA:2874
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Short stature, Erythroid hypoplasia, Reticulocytope... OMIM:612528
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia... ORPHA:370997
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Short stature, Pylo... ORPHA:199
Postencephalitic Parkinsonism
Kyphosis, Open mouth, Camptocormia ORPHA:97349
3Q29 Microdeletion Syndrome
Macrocephaly, Microcephaly, Six lumbar vertebrae ORPHA:65286
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Short stature, Ventricular septal defect, Microcephaly, Optic atrophy, Ventric... OMIM:614947
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Microcephaly, Arteria lusoria, Anteriorly placed anus, High palate, Scoliosis, Hypoplasia of the ... OMIM:618653
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short stature, Short neck, Pectus excavatum, Secundum atria... OMIM:601321
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short stature, Optic neuropathy, Increased intervertebral space, Optic... OMIM:619727
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Scoliosis ORPHA:88644
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Pectus excavatum, Kyphosis, High, narrow palate, Thick lower lip vermilion, High p... OMIM:162300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Gastroesophageal reflux, Hemiballismus, Scoliosis, Atrial septal defect ORPHA:522077
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Xylt1-Cdg
Hepatomegaly, Short stature, Microcephaly, Cleft palate, Growth delay, Short clavicles, Broad ribs ORPHA:370930
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... ORPHA:49
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Bronchiectasis, Long philtrum, Emphysema, Peripheral pulmonary artery ... OMIM:123700
Diphallia
Abnormality of the gastrointestinal tract, Duplicated colon, Rectoperineal fistula, Abnormal hear... ORPHA:227
Cowden Syndrome
Cataract, Short stature, Pectus excavatum, Kyphosis, Furrowed tongue, Macroglossia, High palate, ... ORPHA:201
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... ORPHA:97214
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insufficiency, Abnormali... ORPHA:285
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal... OMIM:107480
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hyperlordosis, Cleft palate, Hepatosplenomegaly, Broad ribs, Cholecystitis, Umbilic... OMIM:301066
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Flat occiput, Kyphosis, Growth delay, Delayed pub... ORPHA:2232
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Peripheral axonal neuropathy, Thin ribs ORPHA:169189
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Intestinal malrotation, Myelomeningocele, Hydrocephalus,... OMIM:258040
Alexander Disease
Large face, Frontal bossing, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis ORPHA:58
17Q11 Microdeletion Syndrome
Short stature, Kyphosis, Abnormal heart morphology, Lisch nodules, Abnormality of the sphenoid si... ORPHA:97685
Occipital Horn Syndrome
Down-sloping shoulders, Aplastic clavicle, Pectus excavatum, Kyphosis, High, narrow palate, Hip d... ORPHA:198
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short stature, Narrow mouth OMIM:620072
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Round face OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Round face OMIM:610475
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse wh... ORPHA:1934
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Thick vermilion b... OMIM:617107
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal h... ORPHA:322
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Thick vermilion border, Short stature OMIM:250410
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Microcephaly, Optic atrophy, Chylothorax, Leukemia, Atrial septal defect, P... ORPHA:2526
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... ORPHA:83454
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Dispr... OMIM:607778
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... OMIM:250420
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Abnormality of the dentition, Oral-pharyngeal dysphagia, Eso... ORPHA:506358
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Venous malformation OMIM:613089
Pallister-Killian Syndrome
Short neck, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Rhizomelia, Mesomelic/rhiz... OMIM:601803
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Subdural hemorrhage, Thin ribs OMIM:615368
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Livedoid Vasculopathy
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke ORPHA:542643
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Short stature, Carious teeth, Patent ductus arteriosus, Downturned cor... OMIM:619522
Hand-Foot-Genital Syndrome
Sacral dimple, Ventricular septal defect ORPHA:2438
Bardet-Biedl Syndrome 20
Atrial septal defect, Papilledema, Pancreatitis, Elevated hepatic transaminase OMIM:619471
Keutel Syndrome
Cerebral calcification, Ventricular septal defect, Recurrent bronchitis, Costal cartilage calcifi... OMIM:245150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Micr... OMIM:620330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis ORPHA:85167
Neurofibromatosis Type 1
Cataract, Short stature, Corneal opacity, Kyphosis, Genu varum, Genu valgum, Lisch nodules, Scoli... ORPHA:636
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Round face OMIM:610489
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale, Colpocephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypo... ORPHA:477993
Clapo Syndrome
Varicose veins, Capillary malformation of the lip, Venous malformation ORPHA:168984
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia OMIM:601374
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Patent foramen ovale OMIM:225250
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Neoplasm of the gallbladder, Intussusception, Abnormal stomach morp... ORPHA:512
Norrie Disease
Microcephaly, Venous insufficiency, Optic atrophy, Scoliosis, Delayed puberty, Aplasia/Hypoplasia... ORPHA:649
Neuroocular Syndrome
Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Ankylogloss... OMIM:619539
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Dysphagia, Diffuse c... ORPHA:93256
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Kyphoscoliosis, Recurrent pneumonia, Thin ribs, Platyspondyly, Progr... OMIM:225400
Ulnar-Mammary Syndrome
Anal stenosis, Hypoplastic scapulae, Ventricular septal defect, Ectopic posterior pituitary, Ante... OMIM:181450
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Short stature, Bicuspid aortic valve, Microcephaly, Secundum atrial septal defect, Postnatal grow... OMIM:613355
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Alström Syndrome
Abnormality of dental color, Thoracic scoliosis, Short stature, Cataract, Round face, Delayed men... ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Astigmatism, Scoliosis OMIM:619482
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis ORPHA:171629
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zic3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zic3.

No publications found that use IMPC mice or data for Zic3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zic3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zic3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Zic3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zic3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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