Gene Summary

Name:
ceramide transporter 1
Synonyms:
GPBP,  Col4a3bp,  ceramide transport protein,  2810404O15Rik,  9230101K08Rik,  Cert

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Cert1tm1a(KOMP)Wtsi HET Early adult 4.32×10-06
preweaning lethality, incomplete penetrance Cert1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 89 images

Human diseases caused by Cert1 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 Cert1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 34
Anteverted nares, 2-3 toe syndactyly, Hearing impairment, Oligohydramnios, Short foot OMIM:616351

The table below shows human diseases predicted to be associated to Cert1 by phenotypic similarity.

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Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Verheij Syndrome
Short nose, Joint hypermobility, Anteverted nares, Scoliosis, Hemivertebrae, Coloboma, Truncus ar... OMIM:615583
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spondylolisthesis, Sandal gap, Pectus excavatum, Pulmonic stenosis, Delayed skeletal maturation, ... OMIM:617877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Joint stiffness, Short distal phalanx of finger, ... ORPHA:2516
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Sacral dimple, Short thorax, Anomalous origin of left coronary artery from... OMIM:618845
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, P... ORPHA:401935
Sandestig-Stefanova Syndrome
Rocker bottom foot, Convex nasal ridge, Perimembranous ventricular septal defect, Muscular ventri... OMIM:618804
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Low-se... OMIM:179613
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Premature bi... OMIM:609029
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Coloboma, Hemivertebrae, Low-set ears, Missing ribs, Pulmonic stenosis, ... OMIM:220210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Bicuspid aortic valve, Overlapping toe, Short 5th finger, Hip disl... ORPHA:508498
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Astigmatism, Abnormal foot morphology, Scoliosis, Low-s... OMIM:618205
Emanuel Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Breech presentation, Severe hearing impairment, ... ORPHA:96170
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, A... OMIM:214800
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pectus excavatum, Overlapping toe, Long toe, Anteverted nares, Scoliosis, Patent foramen ovale, P... OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Short distal phalanx of finger, Ventricular septal defect, U... OMIM:601355
Distal 22Q11.2 Microdeletion Syndrome
Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Hyperlordosis, Arachno... ORPHA:261330
Phaver Syndrome
Abnormal form of the vertebral bodies, Myelomeningocele, Joint stiffness, Broad thumb, Intrauteri... ORPHA:2876
Stankiewicz-Isidor Syndrome
Sacral dimple, 2-3 toe syndactyly, Truncus arteriosus, Low-set ears, Hearing impairment, Microgna... OMIM:617516
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Prelingual sensorineural hearing impairment, Small placenta, Clinod... ORPHA:73272
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte... ORPHA:185
Greenberg Dysplasia
Disproportionate short-limb short stature, Short ribs, Short long bone, Decreased skull ossificat... OMIM:215140
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Proportionate short stature, Abnormal umbilical cor... ORPHA:439167
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Hypoplastic nasal tip, Delayed skeletal maturation, Congenital s... OMIM:157800
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Premature birth, Shor... OMIM:134780
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral... OMIM:142900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Aplasia/hypoplasia ... ORPHA:198
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Chromosome 9P Deletion Syndrome
Clinodactyly of the 5th toe, Sandal gap, Heart murmur, Long toe, Perimembranous ventricular septa... OMIM:158170
Chromosome 22Q11.2 Deletion Syndrome, Distal
Short stature, Truncus arteriosus, Intrauterine growth retardation, Underdeveloped nasal alae OMIM:611867
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Congenital Disorder Of Glycosylation, Type Ih
Decreased fetal movement, Perimembranous ventricular septal defect, Low-set ears, Camptodactyly, ... OMIM:608104
Sotos Syndrome
Accelerated skeletal maturation, Decreased fetal movement, Joint hypermobility, Long foot, Muscul... OMIM:117550
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talip... OMIM:119800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi... ORPHA:371428
Mosaic Trisomy 16
Abnormality of the nose, Atrial septal defect, Large placenta, Single umbilical artery, Ventricul... ORPHA:1708
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, Spina bifida o... OMIM:619227
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Hallux valgus, Truncus arte... ORPHA:2008
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb... OMIM:156530
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Aarskog-Scott Syndrome
Abnormal pinna morphology, Pectus excavatum, Umbilical hernia, Joint hypermobility, Low-set, post... ORPHA:915
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Joint stiffness, Broad thumb, Absent thumb, Abnormal clavicle morphol... ORPHA:392
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Childhood onset sensorineural hearing impairment, Clinodactyly of t... ORPHA:251061
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Low-s... OMIM:600987
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Pectus carinatum, Corneal opacity, Short met... OMIM:150250
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia... OMIM:312150
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Decreased fetal movement, Intrauterine growth ret... OMIM:256520
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Kbg Syndrome
Finger clinodactyly, Anteverted nares, Scoliosis, Thoracic kyphosis, Bilateral conductive hearing... ORPHA:2332
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Tachycardia, Truncus arteriosus, Pulmonary artery atres... ORPHA:3426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Kyphosis,... OMIM:301040
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac... OMIM:208150
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Breech presentation, Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short... OMIM:210710
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia... OMIM:253290
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Restrictive Dermopathy
Thoracic kyphoscoliosis, Decreased skull ossification, Structural foot deformity, Aplasia/Hypopla... ORPHA:1662
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Absent middle phalanx of the 3rd toe, Aplasia of the... OMIM:615297
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricul... OMIM:620070
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Corneal opacity, Pulmonic stenosis, Intrauterine growth retardation, Craniosy... OMIM:301056
Lateral Meningocele Syndrome
Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, Joi... OMIM:130720
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Low hang... ORPHA:363444
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Facial diplegia, Cochlear malformation, Pectus excavatum, P... ORPHA:96148
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Intrauterine... OMIM:620135
Kniest Dysplasia
Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Dumbbell-shaped long bone, ... ORPHA:485
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Delayed skeletal... OMIM:618164
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Pectus excavatum, Abnormal heart morphology, Cer... ORPHA:508488
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Protruding ear, Recurrent otitis media, Hypoplastic nasal tip, Clubbing of fingers, 2-3 toe synda... ORPHA:3304
Eng-Strom Syndrome
Arthritis, Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, In... ORPHA:1937
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Nuclear pulverulent cataract, Sutural cataract, Sensorineural hearing impairment, Prominent finge... OMIM:612474
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Megalocornea, Broad nasal tip, Umbilical hernia, Atrial septa... OMIM:618354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ... ORPHA:96334
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Low-set ears, Micrognathia, Double outlet... OMIM:231060
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Foot oligodactyly, Syndactyly, ... OMIM:616589
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Frank-Ter Haar Syndrome
Kyphoscoliosis, Developmental glaucoma, Broad clavicles, Short long bone, Pectus excavatum, Kypho... OMIM:249420
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Premature b... OMIM:108720
Koolen-De Vries Syndrome
Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Pulmonic stenosis, Bicus... OMIM:610443
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Abnormal pinna morphology, Abnormal heart morphology, Bicuspid aortic valve, Joint hy... ORPHA:477817
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Low-se... ORPHA:397590
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect... OMIM:618870
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Polyhydramnios, Diastasis recti, Coat hanger sign o... ORPHA:254534
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Small earlob... ORPHA:93315
Alg12-Cdg
Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Sensorineural hearing impair... ORPHA:79324
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Congestive heart failure, Cardio... ORPHA:1457
Desbuquois Syndrome
Disproportionate short-limb short stature, Accelerated skeletal maturation, Severe short stature,... ORPHA:1425
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... ORPHA:66637
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Long nasal bridge, Hearing impairment, Micrognathia, Absent p... OMIM:620071
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Atrioventricular canal defect, Abnorm... ORPHA:1120
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis... OMIM:201000
Ogden Syndrome
Left atrial enlargement, Sandal gap, Bifid nasal tip, Pectus excavatum, Premature ventricular con... OMIM:300855
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... OMIM:214300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Otopalatodigital Syndrome Type 2
Developmental glaucoma, Abnormal pinna morphology, Myelomeningocele, Hypoplastic frontal sinuses,... ORPHA:90652
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Disproportionate short-limb short stature, Pectus carinatum, Flat a... OMIM:609052
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ... ORPHA:3320
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Low-set, posteriorly rotated ears,... ORPHA:1488
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
22Q11.2 Deletion Syndrome
Chronic otitis media, Corneal neovascularization, Gastrointestinal hemorrhage, Abnormal aortic ar... ORPHA:567
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ... ORPHA:79345
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran... ORPHA:3384
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo... OMIM:601559
Omodysplasia 1
Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni... OMIM:258315
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Large placenta, Polyhydramnios, Long toe, Anteverted nares, Promine... ORPHA:254528
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Lo... OMIM:618223
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Mitral valve prolapse, Umbilical hernia, ... OMIM:618000
Noonan Syndrome
Sensorineural hearing impairment, Pectus carinatum, Enlarged thorax, Pectus excavatum, Delayed sk... ORPHA:648
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni... ORPHA:2311
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Low back pain, Sup... OMIM:122600
Charge Syndrome
Delayed puberty, Abnormal pinna morphology, Microtia, Anosmia, Umbilical hernia, Intrauterine gro... ORPHA:138
Bent Bone Dysplasia Syndrome 2
Hypoplastic iliac wing, Short ribs, Femoral bowing, Short lower limbs, Intrauterine growth retard... OMIM:620076
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hypertension, Aort... OMIM:139210
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v... OMIM:620203
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Double ou... OMIM:617912
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
16P13.11 Microduplication Syndrome
Pes planus, Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Coarctation of... ORPHA:261243
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Heart Defects, Congenital, And Other Congenital Anomalies
Cervical ribs, Single umbilical artery, Perimembranous ventricular septal defect, Transposition o... OMIM:600001
Cardiomyopathy, Dilated, 1S
Single umbilical artery, Perimembranous ventricular septal defect, Congestive heart failure, Redu... OMIM:613426
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Hearing impairment, Mi... OMIM:618651
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-set ears, ... OMIM:617478
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu... ORPHA:370010
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
Ring Chromosome 21 Syndrome
Scoliosis, Short stature, Abnormal heart morphology, Thoracic hemivertebrae, Syndactyly, Fused th... ORPHA:1445
Sifrim-Hitz-Weiss Syndrome
Astigmatism, Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Low-set ears, Short... OMIM:617159
Apert Syndrome
Convex nasal ridge, Corneal erosion, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Sensorin... ORPHA:87
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Low-set ears, Short stature, Brachydactyly, Adducted thumb OMIM:620062
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,... OMIM:607323
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segment... ORPHA:1797
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Cardiac rhabdomyoma, Abnormal sternum morphology, Short ribs, Polydactyly, Short ... OMIM:109400
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... ORPHA:1826
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right ... OMIM:306955
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Cardiomyopathy, Low-set ears, Nemaline bodies, Short stature, Th... OMIM:616549
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla... OMIM:200700
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Perimembranous ventricular septal defect, Adducted thumb, Congestive heart failure, W... OMIM:608779
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Achondrogenesis Type 1B
Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Anteverted nares, Abnorm... ORPHA:93298
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Vertebral segmentation defect, Abn... ORPHA:1166
Acro-Renal-Ocular Syndrome
Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Cataract, To... ORPHA:959
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Scoliosis, Vertebral segmentation defect, Microtia, Low-s... ORPHA:1988
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Recurrent sinusitis, Decreased fetal movement, Joint hypermobility, Craniosynos... OMIM:213980
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Hyperlordosis, Shor... OMIM:272460
Fetal Trimethadione Syndrome
Short nose, Transposition of the great arteries, Scoliosis, Abnormal helix morphology, Low-set ea... ORPHA:1913
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh... OMIM:228520
Frontonasal Dysplasia 1
Short columella, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Coloboma, Bifid ... OMIM:136760
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Cardi... OMIM:616897
Mullegama-Klein-Martinez Syndrome
Polydactyly, Absent stapes, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sens... OMIM:301022
Alagille Syndrome
Delayed puberty, Long nose, Abnormal form of the vertebral bodies, Hypertension, Delayed skeletal... ORPHA:52
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Facial palsy, Kyphosis, EM... OMIM:606612
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Nemaline b... OMIM:606842
Wrinkly Skin Syndrome
Deep plantar creases, Pectus excavatum, Kyphosis, Umbilical hernia, Intrauterine growth retardati... OMIM:278250
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal pinna morphology, Enlarged... ORPHA:251071
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypoplasia of the radius, Polyhydramnios, Rhizomelia, Sandal gap, Wide nose,... OMIM:607143
Diabetic Embryopathy
Single umbilical artery, Transposition of the great arteries, Low-set, posteriorly rotated ears, ... ORPHA:1926
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Single umbilical artery, Low-set, posteriorly rotated ears, Disproportionate short-limb short sta... ORPHA:2772
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Koolen-De Vries Syndrome
Protruding ear, Abnormal cardiac septum morphology, Scoliosis, Vertebral segmentation defect, Thi... ORPHA:96169
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Sensorineural hearing impairment, Coloboma, He... OMIM:206900
Down Syndrome
Sandal gap, Hypoplastic iliac wing, Microtia, Abnormal fetal nasal bone visualization, Joint hype... OMIM:190685
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Osteopenia, Pulmonary insufficiency, Partial anosmia, Congestive heart failure, ... ORPHA:2326
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Yuan-Harel-Lupski Syndrome
Talipes valgus, Clinodactyly of the 5th finger, Sandal gap, Wide nose, Aortic root aneurysm, Hear... OMIM:616652
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Flared ... OMIM:215045
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Situs inversus totalis, Truncus arteriosus, Femoral bowing, Hypertrophic cardiomyopat... OMIM:615415
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Pulmonic stenosis, Abnormal h... ORPHA:97360
Microphthalmia, Syndromic 2
Sandal gap, Sensorineural hearing impairment, Bifid nasal tip, Pulmonic stenosis, Aortic valve st... OMIM:300166
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Kagami-Ogata Syndrome
Postnatal growth retardation, Kyphoscoliosis, Large placenta, Polyhydramnios, Bell-shaped thorax,... ORPHA:254519
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Lo... OMIM:617190
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Limited knee extension, Congenital f... OMIM:121050
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Corneal opacity, Kyphosis, Aortic valve stenosis, Joint stiff... OMIM:253010
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Oligohydramnios, Patent foramen ovale, Pulmonary arterial hypertension, Hearing ... ORPHA:163956
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Clinodactyly of the 5th finger, Keratoconus, Limited elbow ext... OMIM:244600
Cantú Syndrome
Deep plantar creases, Delayed skeletal maturation, Accelerated skeletal maturation, Umbilical her... ORPHA:1517
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Restrictive Dermopathy 1
Kyphoscoliosis, Rocker bottom foot, Narrow nasal ridge, Overtubulated long bones, Premature birth... OMIM:275210
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Craniosynostosis, Talipes equinovarus... ORPHA:356961
Spondyloepimetaphyseal Dysplasia, Irapa Type
Disproportionate short-limb short stature, Pectus carinatum, Short metacarpal, Hypoplastic pelvis... ORPHA:93351
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f... OMIM:156550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Macroglossia, Kyphosis, Ac... OMIM:607155
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Corneal opacity, Kyphosis, Delayed... ORPHA:582
Maternal Phenylketonuria
Hypoplastic helices, Deviated nasal septum, Anteverted nares, Coarctation of aorta, Abnormal hear... ORPHA:2209
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han... OMIM:618569
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent otitis media, Dextrocardia OMIM:618254
Achondrogenesis Type 1A
Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Anteverted nares, Short ... ORPHA:93299
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio... ORPHA:175
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w... ORPHA:1596
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Proximal symphalangism, ... OMIM:610017
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Prominent nose, Short stature, Growth delay, Patent ductus arteriosus, ... OMIM:614886
Microcephaly-Micromelia Syndrome
Convex nasal ridge, Absent radius, Craniosynostosis, Narrow chest, Wide nose, Oligodactyly, Low-s... OMIM:251230
Lethal Congenital Contracture Syndrome 10
Femoral bowing, Short long bone, Cardiomegaly, Adducted thumb, Intrauterine growth retardation, O... OMIM:617022
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Snail-like ilia, Short ribs, Flat acetabular roof, Sho... OMIM:269250
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Convex nasal ridge, Fused cervical vertebrae, Abnormal hip bone mor... ORPHA:2522
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, Interrupted aortic arch, Sensorineural hearing... ORPHA:391641
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Trisomy 13
Hydrops fetalis, Narrow chest, Abnormal antihelix morphology, Sensorineural hearing impairment, S... ORPHA:3378
Ververi-Brady Syndrome
Single umbilical artery, Transposition of the great arteries, Clinodactyly of the 5th finger, Wid... OMIM:617982
Gillespie Syndrome
Truncus arteriosus, Aniridia, Hypoplasia of the iris OMIM:206700
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Sacral dimple, Recurrent otitis media, Wide nose, Low insertion of columella, Scoliosi... OMIM:619995
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Alkaptonuria
Brown pigmentation of the conjunctiva, Limitation of knee mobility, Intervertebral disk degenerat... OMIM:203500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Multiple joint dislocation, Hyperlordosis, Internally rotated shoulders, De... OMIM:619503
Osteogenesis Imperfecta
Mixed hearing impairment, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip b... ORPHA:666
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Mi... ORPHA:313892
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the ... ORPHA:2916
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Gorlin Syndrome
Abnormal vertebral morphology, Iris coloboma, Vertebral wedging, Scoliosis, Hemivertebrae, Abnorm... ORPHA:377
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Sensorineural hearing impairment, Pectus excavatum, Umbilical hernia, Joint h... OMIM:612582
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Diamond-Blackfan Anemia 7
Osteopenia, Fetal distress, Polyhydramnios, Recurrent otitis media, Triphalangeal thumb, Scoliosi... OMIM:612562
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Senso... OMIM:118100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
3C Syndrome
Abnormal hip bone morphology, Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aort... ORPHA:7
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Cyclopia, Patent foramen ovale, Microtia, Low-set ears, Vertebral clefting, ... OMIM:301043
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Polyhydramnios, Bell-shaped thorax, Anteverted nares, Microtia, T... OMIM:608149
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Short finger... OMIM:300232
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Sensorineural hear... ORPHA:1458
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas... ORPHA:1727
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Broad t... ORPHA:373
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Thoraci... OMIM:613702
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
White Forelock With Malformations
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Finger s... ORPHA:2475
Primary Ciliary Dyskinesia
Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit... ORPHA:244
Noonan Syndrome 12
Polyhydramnios, Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum, Spinal canal ste... OMIM:618624
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Rhizomelic Chondrodysplasia Punctata, Type 2
Zonular cataract, Knee contracture, Short humerus, Rhizomelia, Anteverted nares, Scoliosis, Short... OMIM:222765
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Hadziselimovic Syndrome
Anteverted nares, Ventricular hypertrophy, Pulmonary artery atresia, Low-set ears, Short stature,... OMIM:612946
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit... OMIM:619636
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Bilateral sensorineural hearing impair... ORPHA:66634
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad 2nd toe, Pectus excavatum, Umbilical hernia, Clinodactyly, Long foot, Transposition of the ... OMIM:280000
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Talipes, Clinodactyly of the 5th f... ORPHA:1836
3Q29 Microdeletion Syndrome
Short nose, Clinodactyly of the 5th finger, Pectus carinatum, Low-set ears, Tapered finger, Catar... ORPHA:65286
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Pectus... OMIM:619910
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, J... ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Perimembranous ventricular septal defect, Long clavicles, Fused cer... ORPHA:83617
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Atrioventricular canal defect, Double inlet left ventr... OMIM:270100
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia,... OMIM:253200
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Heari... ORPHA:1724
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Pectus carinatum, Kyphosis, Split foot, Intrauterine growth reta... ORPHA:958
Congenital Syphilis
Myocarditis, Osteochondrosis, Large placenta, Hydrops fetalis, Tibial bowing, Cataract, Synovitis... ORPHA:499009
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Platyspondyly, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac w... OMIM:300863
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Pectus excav... ORPHA:2970
Microgastria-Limb Reduction Defect Syndrome
Abnormal metacarpal morphology, Congenital muscular torticollis, Abnormal finger morphology, Trun... ORPHA:2538
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short stature, Short middle phalanx... OMIM:309620
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Abnormal pinna morphology, Microtia, Short ribs, Short long bone, A... OMIM:617925
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Sensorineural hearing impairment, Pectus carinatum, Cardiomyopathy,... OMIM:253220
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Mi... OMIM:151200
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Facial palsy, Congenital sensorineural hearing impairment,... ORPHA:3456
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... OMIM:618469
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Pectus cari... OMIM:618150
Duane Retraction Syndrome
Aniridia, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna... ORPHA:233
Kapur-Toriello Syndrome
Joint contracture of the hand, Clinodactyly of the 5th toe, Low hanging columella, Scoliosis, Low... OMIM:244300
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol... OMIM:617137
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Astigmatism, Fused cervical vertebrae, Short 1st metacarpal, Patent for... OMIM:609053
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog... OMIM:194190
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Aortic regurgitation, Wide nose, Anteverted nares, Microtia, Low-... OMIM:222470
Waardenburg Syndrome, Type 2E
Vascular dilatation, Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hetero... OMIM:611584
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t... OMIM:166210
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Sensorineural hearing impairment, Scoliosis, Abnormal pinna morphology, Low-set ears, Pectus exca... ORPHA:52055
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic pelv... OMIM:616300
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent otitis media, Patent ductus arteriosus, ... OMIM:188400
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ... OMIM:184460
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Microtia, Lower limb asymmetry... ORPHA:1703
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Stenosis of the external auditory canal, Abnormal rib morphology, Sho... ORPHA:1513
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Abnormally ossified vertebrae, Short... ORPHA:1427
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short stature, Short middle phalanx of finger, Thoracic hemi... ORPHA:1436
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Breech presentation, Anencephaly, Syndactyly... OMIM:249000
Viss Syndrome
Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurr... OMIM:619472
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Narrow nasal bridge, Aplasia/Hypop... ORPHA:3082
Weill-Marchesani Syndrome 1
Broad metatarsal, Pulmonic stenosis, Aortic valve stenosis, Joint stiffness, Broad ribs, Scoliosi... OMIM:277600
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Short stat... OMIM:201170
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Hypertension, Tapered finger, Bulbous nose, Posteriorly rotated ears, Flexion contrac... OMIM:613870
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Intellectual Developmental Disorder, Autosomal Dominant 52
Astigmatism, Breech presentation, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairme... OMIM:617796
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Breech p... OMIM:143095
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function, Posterior embryotoxon, Tetralogy ... OMIM:617992
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemiverteb... ORPHA:2759
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... ORPHA:1780
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta, Abnormal vertebral morphology, Abnormal rib morpho... ORPHA:280195
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Anteverted nares, Thoracic kyphosis, ... OMIM:148050
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Pec... OMIM:613458
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Roun... ORPHA:3242
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Hemivertebrae, Lo... ORPHA:2180
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Abnormal form of... ORPHA:1486
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Low-set ears, Central Y-shaped metacarpal, Prominent metopic ri... OMIM:617926
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morpholog... ORPHA:583
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Disproportionate short-limb short stature, Short ribs, Short long bone, Cupped ribs, Metaphyseal ... OMIM:250420
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Coloboma, Patent foramen ovale, Low-set ears, Macrotia, Depr... OMIM:616789
Tibial Hemimelia
Absent tibia OMIM:275220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polys... OMIM:263520
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... ORPHA:2990
Giant Cell Arteritis
Recurrent pharyngitis, Vasculitis, Arthritis, Vertigo, Cerebral ischemia, Double outlet right ven... ORPHA:397
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Catel-Manzke Syndrome
Low insertion of columella, Pectus carinatum, Short metacarpal, Pectus excavatum, Ulnar deviation... OMIM:616145
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte... ORPHA:79094
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Platyspondyly, Spatulate ribs, Aortic regurgitation, Br... OMIM:619698
De Barsy Syndrome
Kyphoscoliosis, Corneal opacity, Pectus excavatum, Delayed skeletal maturation, Decreased fetal m... ORPHA:2962
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Delayed skeletal maturation, Supernume... OMIM:612447
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Talipes, Anencephaly, Encephalocele, Meningocele, Low-set, posteriorly ro... ORPHA:1908
Chops Syndrome
Short nose, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nares, Patent foramen ova... OMIM:616368
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Apert Syndrome
Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosy... OMIM:101200
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Mosaic Trisomy 9
Rocker bottom foot, Deep plantar creases, Corneal opacity, Intrauterine growth retardation, Oligo... ORPHA:99776
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, Short stature, Broad nasal tip, Syndactyly, Short tibia OMIM:300484
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Abnormal hip bone morphology, Disproportionate short-limb short stature, Sa... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Microtia, Short long bone, Broad femoral neck, Left ventricular hypertrophy, Intr... OMIM:611209
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Flat ace... OMIM:608728
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Low-set ears, Camptodactyly, Short stature, Growth delay, Intrau... OMIM:617333
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia... ORPHA:40366
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis... OMIM:147750
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Fla... OMIM:250220
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted inferior vena ... OMIM:206920
Hurler Syndrome
Hypertension, Cardiomyopathy, Corneal opacity, Abnormal epiphysis morphology, Abnormal clavicle m... ORPHA:93473
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Hyperlordosis, Femoral bowing, Short long bone, Kyphos... OMIM:618019
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Fibrochondrogenesis 2
Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh... OMIM:614524
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Pectus carinatum, Wormian bones, Scoliosis, Pectus exc... OMIM:259440
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec... OMIM:186500
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Congestive heart failure, Hydrops fetalis, Abnormal heart valve morp... OMIM:230500
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Microtia, Short foot, Camptodactyly... OMIM:227330
Isotretinoin-Like Syndrome
Postnatal growth retardation, Bicuspid aortic valve, Abnormal aortic arch morphology, Aplasia/Hyp... ORPHA:2306
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac... OMIM:182212
Recombinant 8 Syndrome
Chronic otitis media, Deep plantar creases, Clinodactyly of the 5th finger, Abnormal sternum morp... ORPHA:96167
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Platyspondyly, Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calc... ORPHA:163966
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Pes planus, Joint hyp... OMIM:618395
Leopard Syndrome 3
Abnormal aortic valve morphology, Cubitus valgus, Sensorineural hearing impairment, Low-set ears,... OMIM:613707
Vater/Vacterl Association
Occipital encephalocele, Abnormal sternum morphology, Syndactyly, Abnormal nasopharynx morphology... OMIM:192350
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Asymmetric septal hypertrophy, Joint stiffness, Hearing impairment, Ov... OMIM:252900
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Abnormal finger morphology, ... ORPHA:79500
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Premature birth, ... ORPHA:50945
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified... ORPHA:800
Grant Syndrome
Joint dislocation, Narrow chest, Wormian bones, Decreased skull ossification, Bowing of the long ... ORPHA:2097
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Trisomy 1Q
Congenital diaphragmatic hernia, Long foot, Hydrops fetalis, Polyhydramnios, Wide nose, Short tho... ORPHA:261344
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Kapur-Toriello Syndrome
Low-set ears, Retinal coloboma, Atresia of the external auditory canal, Tetralogy of Fallot, Post... ORPHA:2328
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Abnormal antihelix morphology, Finger syndactyly, Microtia, Split... ORPHA:2145
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Corneal opacity, Tibial bowing, Short long bone, Sh... OMIM:608940
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
German Syndrome
Hearing abnormality, Limitation of joint mobility, Short stature, Camptodactyly of finger, Microg... ORPHA:2077
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent foram... OMIM:620570
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Low-set ears, Abnormal rib morphology, Tetral... ORPHA:276422
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Three M Syndrome 2
Protruding ear, Slender long bone, Short thorax, Pectus carinatum, Short 5th finger, Hyperlordosi... OMIM:612921
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu... OMIM:602111
Mosaic Trisomy 8
Deep plantar creases, Abnormal pinna morphology, Corneal opacity, Anteverted nares, Scoliosis, Sh... ORPHA:96061
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Microtia, Tibial bowing, Delayed skeletal maturation, Short distal phalan... OMIM:210720
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation OMIM:611376
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Broad nasal tip, Hip dyspla... ORPHA:530983