Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dehydrogenase/reductase (SDR family) member 3
Synonyms:
Rsdr1,  retSDR1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dhrs3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dhrs3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Cleft upper lip, Scoliosis, Ventricular septal defec... OMIM:214300
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Short neck, Flexion contracture, Long philtrum, Eve... OMIM:616549
Catel-Manzke Syndrome
Joint stiffness, Atrial septal defect, Micrognathia, Highly arched eyebrow, Short stature, Scolio... ORPHA:1388
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin A, Elevated circulating alanine aminotransferase concentration, Elevated ga... OMIM:619481
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Sacral dimple, Patent ductus arteriosus, Double outlet right ventr... OMIM:618845
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Vertebral fusion, Vertebral segmentation defect, Cleft palate OMIM:221950
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of ... ORPHA:1354
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Scoliosis, Genu valgum, High palate, Partial fusion of ... OMIM:305620
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Intrauterine growth retardation, Atrial septal defect, Double ... OMIM:220210
Kbg Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Thin upper lip vermilion, Macrodontia, Thick eyebro... ORPHA:2332
Asymmetric Short Stature Syndrome
Asymmetric short stature, Micrognathia, Dental crowding, Hemihypotrophy of lower limb, Fused cerv... OMIM:108450
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Intrauterine growth retardation, Cleft upper lip, Joint dislocation, Increas... OMIM:312150
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Short palpebral fissure, Tetralogy of Fallot, Hypoplastic right heart, Micrognathia, Ventricular ... OMIM:601348
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Eng-Strom Syndrome
Intrauterine growth retardation, Short stature, Scoliosis, Ventricular septal defect, Camptodacty... ORPHA:1937
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Double outlet right ventricle, Right aortic arch, Ventricular sept... OMIM:231060
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of the dentition, Atrial septal defect... OMIM:179613
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Dextrocardia, Situs inversus totalis, Short stature, Vertebral fus... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... OMIM:277300
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Intrauterine growth retardation, Joint dislocation, Increased susceptibility... OMIM:253290
Mosaic Trisomy 20
Upslanted palpebral fissure, Kyphosis, Intrauterine growth retardation, Craniofacial asymmetry, A... ORPHA:1724
Verheij Syndrome
Short neck, Long philtrum, Short 5th finger, Growth delay, Short stature, Scoliosis, Vertebral fu... OMIM:615583
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Anal atresia, Short stature, Scoliosis, Short middle phalanx of finge... ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Micrognathia, Ptosis, Abnormality of dental morphology, Shor... ORPHA:2522
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Cleft palate OMIM:616570
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Thakker-Donnai Syndrome
Narrow mouth, Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, Upslanted palpebral fissure, ... ORPHA:1780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Sparse eyebrow, Micrognathia, Downslanted palpebral fissures, Short stature, Sp... OMIM:616901
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Sacral dimple, Atrial septal defect, Thick lower lip vermilion, Micrognathia, Wid... OMIM:608227
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the toes, Thoracolumbar scolios... OMIM:113000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Short stature, Growth delay OMIM:617744
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Anal atresia, Short stature, Scoliosis, Short middle phalanx of finger, ... OMIM:309620
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Phocomelia, Absent radius, Micrognathia, Patellar dislocation, S... ORPHA:3320
Kniest Dysplasia
Coronal cleft vertebrae, Disproportionate short-trunk short stature, Disproportionate short statu... ORPHA:485
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Drooling, Patent ductus arteriosus, Widely spaced teeth, Thick upper lip vermilion, I... OMIM:619717
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Microgna... ORPHA:1913
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate, Ptosis OMIM:120433
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Intrauterine growth retardation, Patent foramen ovale, Atrial septal de... OMIM:609053
Lamb-Shaffer Syndrome
Thoracic kyphosis, Mild postnatal growth retardation, Micrognathia, Scoliosis, Fused cervical ver... ORPHA:530983
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Sparse lateral eyebrow, Evert... ORPHA:261120
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Atrial septal defect, Osteoporosis, Ptosis, Highly arc... OMIM:617190
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Upslanted palpebral fissure, Short palpebral fissure, Joint stif... OMIM:151200
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Micrognathia, Ptosis, Scoliosis, Dysplastic patella, Arthrogryposis multiplex cong... OMIM:265000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Aarskog-Scott Syndrome
Long philtrum, Everted lower lip vermilion, Ptosis, Small hand, Epicanthus, Cleft palate, Short n... ORPHA:915
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Vertebral fusion, Spinal instability OMIM:251250
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Hypoplastic frontal sinuses, Increased bone mineral density, Short pa... ORPHA:90650
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Upslanted palpebral fissure, Short palpebral fissure, Short philtrum, Kyphosis, Atr... ORPHA:352490
Cardiospondylocarpofacial Syndrome
Upslanted palpebral fissure, Carpal synostosis, Long philtrum, Abnormality of the dentition, Join... OMIM:157800
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Ankyloblepharon ORPHA:1074
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Submucous clef... OMIM:619227
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Short 5th metacarpal, Short distal phal... ORPHA:370010
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Orbital cyst OMIM:251505
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Ptosis, Knee flexion ... OMIM:178110
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva, Low levels of vitamin A OMIM:277350
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Upslanted palpebral fissure, High palate, Microphthalmia, Epicanthus ORPHA:2528
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Generalized joint laxity, Micrognathia, Ventricular septal d... ORPHA:508498
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital knee dislocation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect... OMIM:601450
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Death in infancy, Glossoptosis, Ventricular septal defect OMIM:614876
Spinal Muscular Atrophy, Type I
Atrial septal defect, Tongue fasciculations, Ventricular septal defect, Death in childhood OMIM:253300
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate, Ankyloblepharon OMIM:106250
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, Thick ... OMIM:619189
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Joint laxity, Dislocated radial head, Intestinal malrotation... ORPHA:401935
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Micrognathia, Ptosis, Patellar dislocation, Ventricular septal def... OMIM:274000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Intrauterine growth retardation, Joint stiffness, Micrognathia, High, narrow palate, ... ORPHA:2516
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Tracheomalacia, Patent ductus arteriosus, Atri... OMIM:612561
Lateral Meningocele Syndrome
High palate, Wormian bones, Short neck, Kyphosis, Patent ductus arteriosus, Long philtrum, Sclero... OMIM:130720
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, U-Shaped upper lip vermilion, Thick lower... OMIM:612946
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Micrognathia, Scoliosis, Cleft palate, Limitation of mo... ORPHA:1826
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Everted lower lip vermilion, Microdontia, Ptosis, High, narrow palat... ORPHA:96169
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Trismus, Deep philtrum, Micrognathia, Ptosis, Short stature, Dysphagia, Ar... OMIM:158300
Frontometaphyseal Dysplasia 2
Bifid uvula, Thick eyebrow, Scoliosis, Ulcerative colitis, Cleft palate, Pierre-Robin sequence, H... OMIM:617137
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Microphthalmia, Widely-spaced maxillary central incisor... OMIM:601349
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Osteopenia, Abnormal form of the vertebral bodies, Atrial septal defect, Carpal osteol... ORPHA:371428
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Short 5th finger,... ORPHA:52056
Frontoocular Syndrome
Narrow mouth, Upslanted palpebral fissure, Short palpebral fissure, High palate, Narrow philtrum,... OMIM:605321
Mcdonough Syndrome
Upslanted palpebral fissure, Short philtrum, Atrial septal defect, Pulmonic stenosis, Micrognathi... OMIM:248950
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hypodontia, Elbow ... ORPHA:2916
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Short hallux, Widely sp... OMIM:135100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Joint stiffness, Tooth agenesis, Micrognathia, Short stature, Ventricular se... ORPHA:1166
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, 11 pairs of ribs, Microgna... OMIM:108720
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Unilateral ptosis, Patent ductus arteriosus, ... ORPHA:3304
Fetal Alcohol Syndrome
Joint stiffness, Intrauterine growth retardation, Thin upper lip vermilion, Non-midline cleft lip... ORPHA:1915
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology, Micrognathia, Short stature, Epicanthus, Thin upper li... ORPHA:2015
Apert Syndrome
Bifid uvula, Shallow orbits, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Ventricu... OMIM:101200
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Trismus, Growth delay, Micrognathia, Abnormal heart morphology, Sagittal craniosynostosis OMIM:218450
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Tarsal synostosis,... ORPHA:2064
German Syndrome
High palate, Tetralogy of Fallot, Short neck, Open mouth, Everted lower lip vermilion, Micrognath... ORPHA:2077
Chromosome 16P13.3 Duplication Syndrome
Upslanted palpebral fissure, Atrial septal defect, Ptosis, Malar flattening, Ventricular septal d... OMIM:613458
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Sacral dimple, Long philtrum, Patent ductus arteriosus, Long eyelashes, Atrial sept... OMIM:615502
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Blepharophimosis, Oral synechia, Cleft palate ORPHA:2016
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Everted lower lip vermilion, Widely spaced teeth, Ptosis, Scoliosis,... OMIM:610443
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Sonoda Syndrome
Narrow mouth, Short stature, Ventricular septal defect OMIM:270460
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Upslanted palpebral fissure, Cleft upper lip, Atrial septal defect, Short 5th f... OMIM:600987
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Intrauterine growth retardation, Micrognathia, Type I transferrin isoform pr... OMIM:608540
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal heart morphology, Short stature, Scoliosis, Small hand, Thorac... ORPHA:1445
Burn-Mckeown Syndrome
Narrow mouth, Short palpebral fissure, Short philtrum, Bifid uvula, Cleft upper lip, Atrial septa... OMIM:608572
Keratoconus Posticus Circumscriptus
Cleft upper lip, Short neck, Growth delay, Limited elbow extension and supination, Abnormal verte... OMIM:244600
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Hi... OMIM:616898
Cornelia De Lange Syndrome 2
High palate, Short neck, Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Hypertro... OMIM:300590
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Highly arched eye... ORPHA:228399
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Long philtrum, Atrial septal defect, Joint laxity, Double... ORPHA:477817
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... ORPHA:3426
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Short toe OMIM:615297
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Atrial septal defect, Micrognathia, Short stature, Malar flattening, Death in infan... ORPHA:93946
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the ulna, Absent radius, Anal stenosis, Atrial septal defect, Short t... OMIM:607323
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Craniosynostosis, Atrial septal defect, Coarctation of aorta, Ventricular se... ORPHA:261243
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Short neck, Blepharophimosis, Knee flexion contracture, W... OMIM:619110
Kbg Syndrome
Thoracic kyphosis, Long philtrum, Macrodontia, Thick eyebrow, Oligodontia, Widely-spaced maxillar... OMIM:148050
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, S... OMIM:249670
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Oral cleft OMIM:611638
Nanophthalmos 4
Microphthalmia OMIM:615972
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Disproportionate short stature, S... OMIM:618363
Whistling Face Syndrome, Recessive Form
Narrow mouth, Short palpebral fissure, High palate, Short neck, Elbow flexion contracture, Trismu... OMIM:277720
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Micromelia, Scoliosis, Ventricular septal defect, Genu va... OMIM:618870
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Low levels of vitamin D OMIM:619256
Coffin-Siris Syndrome 6
Short philtrum, Wormian bones, Atrial septal defect, Deep philtrum, Micrognathia, High, narrow pa... OMIM:617808
Catel-Manzke Syndrome
Overriding aorta, High palate, Short neck, Intrauterine growth retardation, Cleft upper lip, Join... OMIM:616145
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Maternal Phenylketonuria
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Long philtrum, Double outlet r... ORPHA:2209
Frank-Ter Haar Syndrome
Osteoporosis, Double outlet right ventricle, Micrognathia, Ventricular septal defect, Anterior co... OMIM:249420
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Craniosynostosis, Intrauterine growth retardation, Megarectum, Hypodontia, D... OMIM:301056
Gorlin Syndrome
Vertebral wedging, Carious teeth, Scoliosis, Vertebral fusion, Mandibular prognathia, Epicanthus,... ORPHA:377
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Enamel hypoplasia, Macrodontia, Hypodontia, Epicanthus... OMIM:263540
Diaphanospondylodysostosis
Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segme... ORPHA:66637
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Atrial septal defect, Radioulnar synostosis, Short stature, Malar fla... ORPHA:921
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Scoliosis, Cleft palate, Synostosis of carpal bones... ORPHA:90652
Feingold Syndrome 2
Short thumb, Short middle phalanx of the 2nd finger, Short stature, Ventricular septal defect, In... OMIM:614326
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Colitis, Keratoconjunctivitis sicca, Low levels of vitamin D, Edema, Low... ORPHA:309031
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Aplasia/Hypoplasia o... ORPHA:1919
3C Syndrome
Missing ribs, Abnormal mitral valve morphology, Micrognathia, High, narrow palate, Hypoplastic le... ORPHA:7
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Mental Retardation, Buenos Aires Type
High palate, Long eyelashes, Atrial septal defect, Carious teeth, Ptosis, Curly eyelashes, Downsl... OMIM:249630
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Severe short stature, Disproportionate short-trunk short stature, Scoli... OMIM:122600
Congenital Disorder Of Glycosylation, Type Iig
Upslanted palpebral fissure, Micrognathia, Scoliosis, Small hand, Thin upper lip vermilion, Left ... OMIM:611209
Desbuquois Syndrome
Accelerated skeletal maturation, Short neck, Camptodactyly of finger, Severe short stature, Abnor... ORPHA:1425
Rhizomelic Limb Shortening With Dysmorphic Features
Short neck, Patent foramen ovale, Long philtrum, Rhizomelia, Short 5th finger, Short thumb, Micro... OMIM:618821
Potocki-Lupski Syndrome
High palate, Patent foramen ovale, Atrial septal defect, Oral-pharyngeal dysphagia, Micrognathia,... OMIM:610883
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Aplasia/Hypoplasia of the distal phalanges of the toes, Microdonti... ORPHA:1248
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Radioulnar dislocation, Dislocated radial head, Joint laxity, Beaking of vertebral b... ORPHA:93359
Al Kaissi Syndrome
Sacral dimple, Intrauterine growth retardation, Long philtrum, Thin upper lip vermilion, Atrial s... OMIM:617694
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Long philtrum, Epicanthus, T... OMIM:239711
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventric... OMIM:618223
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Upslanted palpebral fissure, High palate, Intrauterine growth retardation, Patent ductus arterios... OMIM:618142
Gombo Syndrome
Microphthalmia OMIM:233270
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Denta... ORPHA:313892
Myhre Syndrome
Thick eyebrow, Vertebral fusion, Ventricular septal defect, Mandibular prognathia, Short toe, Nar... OMIM:139210
Coffin-Siris Syndrome 5
Short philtrum, Intrauterine growth retardation, Long eyelashes, Atrial septal defect, Thick eyeb... OMIM:616938
Mmep Syndrome
Microphthalmia, Median cleft lip, Oral cleft ORPHA:3434
Roifman Syndrome
Prominent eyelashes, Intrauterine growth retardation, Long philtrum, Short metacarpal, Biconvex v... OMIM:616651
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Long philtrum, Fibular hypoplasia, Thick eyebrow, Micrognathia, Ptosis, Highly ar... ORPHA:444077
2Q24 Microdeletion Syndrome
Short philtrum, Microphthalmia, Downslanted palpebral fissures, Abnormal oral frenulum morphology... ORPHA:1617
Shwachman-Diamond Syndrome
Sinusitis, Low levels of vitamin A, Fat malabsorption, Osteopenia, Vertebral compression fracture... ORPHA:811
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Upslanted palpebral fissure, Short palpebral fissure, Short philtrum, Atrial septal... OMIM:617360
Emanuel Syndrome
Upslanted palpebral fissure, High palate, Kyphosis, Intrauterine growth retardation, Patent ductu... OMIM:609029
Oculoauriculofrontonasal Syndrome
Narrow mouth, Micrognathia, Cleft lip, Scoliosis, Limbal dermoid, Ventricular septal defect, Broa... ORPHA:398156
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Alazami Syndrome
Short palpebral fissure, Short philtrum, Atrial septal defect, Sparse eyebrow, Widely spaced teet... ORPHA:319671
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the toes, Highly arch... ORPHA:94066
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Atrial septal defect, Growt... OMIM:614886
Pycnodysostosis
Narrow palate, Wormian bones, Increased bone mineral density, Spondylolysis, Osteolytic defects o... OMIM:265800
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Metopic suture patent to nasal root, Multiple suture craniosynostosis, Epicanthus, B... ORPHA:3369
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Pentasomy X
Upslanted palpebral fissure, Patent ductus arteriosus, Micrognathia, Radioulnar synostosis, Short... ORPHA:11
Holoprosencephaly 13, X-Linked
Vertebral clefting, Solitary median maxillary central incisor, Patent foramen ovale, Patent ductu... OMIM:301043
3P25.3 Microdeletion Syndrome
Acromesomelia, Micrognathia, Coronary artery atherosclerosis, High, narrow palate, Scoliosis, Ven... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Short neck, Intrauterine growth retardation, Flexion contracture, Sacral dimple, Atr... OMIM:617452
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Wormian bones, Delayed eruption of teeth, Patent ductus arter... ORPHA:2863
Anencephaly 2
Short palpebral fissure, Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, M... OMIM:619452
Emanuel Syndrome
Upslanted palpebral fissure, Bifid uvula, Hooded eyelid, Long philtrum, Micrognathia, Ptosis, Sco... ORPHA:96170
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Ptosis, Highly arched eyebrow, Microphthalmia, Long palp... OMIM:614583
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Osteopenia, Intrauterine growth retardation, Patent ductus arteriosus, Osteo... OMIM:612562
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Atrial septal defect, Micromelia, Downslanted palpebral fissures, Short stature, Joi... ORPHA:1035
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, Lambdoidal craniosynostosis, High palate, Short stature, Ventricular septa... OMIM:314320
Hartsfield Syndrome
Non-midline cleft lip, Ptosis, Microphthalmia, Downslanted palpebral fissures, Telecanthus, Cleft... ORPHA:2117
Scimitar Syndrome
Abnormality of the vertebral column, Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia... ORPHA:185
Kabuki Syndrome 2
Micrognathia, Highly arched eyebrow, Atrioventricular canal defect, Epicanthus, Cleft palate, Hip... OMIM:300867
Zechi-Ceide Syndrome
Short palpebral fissure, Short philtrum, Atrial septal defect, Oligodontia, Cleft lip, Abnormal h... ORPHA:217017
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, High, narrow palate, Short stature, Vent... ORPHA:2515
Ritscher-Schinzel Syndrome 2
Upslanted palpebral fissure, Short philtrum, Protruding tongue, Patent ductus arteriosus, Atrial ... OMIM:300963
Feingold Syndrome Type 2
Short thumb, Jejunal atresia, Short stature, Short middle phalanx of finger, Ventricular septal d... ORPHA:391646
Aase-Smith Syndrome I
Flexion contracture, Open mouth, Ptosis, Ventricular septal defect, Death in infancy, Cleft palate OMIM:147800
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, Upslanted palpebral fissure, High palate, Intrauterine growth retardation, Patent f... OMIM:270450
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Disproportionate short-trunk short ... ORPHA:93315
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Growth delay, Micrognathia, Ptosis, Downslanted palpebral fissures, Hypoplas... ORPHA:1727
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Upslanted palpebral fissure, Tetralogy of Fallot, Hypoplasia of the ulna, Intrauterine growth ret... OMIM:600123
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Cervical C... ORPHA:87
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Cardiofaciocutaneous Syndrome 3
Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, ... OMIM:615279
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Cleft vertebral arch, Intrauterine growth retardation, Coronal craniosynostosis, Co... ORPHA:83617
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Polyvalvular Heart Disease Syndrome
High palate, Short philtrum, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve pro... ORPHA:228410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Macroglossia, Scoliosis, Vertebral fusion OMIM:606612
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Solitary median maxillary central incisor, Patent ductus arteriosus, Thoracic aortic... OMIM:619657
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Scoliosis, Patellar dislocation, Ventricular septal defect, ... OMIM:121050
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Intrauterine growth retardation, Contracture of the proximal interphalangeal joint o... ORPHA:2872
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Joint stiffness, Intrauterine growth retardation, Patent foramen ovale, En... OMIM:619184
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Hypoplasia of the maxilla, Downslanted palpebr... ORPHA:261295
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Upslanted palpebral fissure, Long philtrum, Thick eyebrow, Micrognathia, Ptosis, Scoliosis, Dysph... OMIM:617061
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Joint stiffness, Tracheomalacia, Atrial septal defect, Thick eyebrow,... ORPHA:896
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Thin upper lip vermilion... OMIM:617877
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Kyphosis, Hyperlordosis, Macroglossia, Scoli... OMIM:607155
Coffin-Siris Syndrome 10
Epicanthus, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Ptosis, Pulmonic stenosis, Downslanted palpebr... OMIM:618499
Li-Ghorbani-Weisz-Hubshman Syndrome
Upslanted palpebral fissure, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d... OMIM:618974
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal dea... OMIM:228940
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusio... OMIM:118100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormality of vitamin A metabolism, Hepatitis, Abnormality of vitamin E metabolism ORPHA:209902
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Long philtrum, Atrial septal defect, Highly arched eyebrow, Short stature, V... OMIM:300887
Faciothoracogenital Syndrome
Microphthalmia, Thin upper lip vermilion, Long philtrum, Smooth philtrum OMIM:227320
Robinow Syndrome
Acromesomelia, Missing ribs, Long philtrum, Tricuspid atresia, Micrognathia, Mesomelic arm shorte... ORPHA:97360
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Lujan-Fryns Syndrome
High palate, Short philtrum, Abnormality of the dentition, Atrial septal defect, Micrognathia, Hy... ORPHA:776
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Frontonasal Dysplasia 3
Absent eyebrow, Microphthalmia, Sparse eyelashes, Upper eyelid coloboma, Cleft palate OMIM:613456
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Osteopenia, Pulmonary artery hypoplasia, Osteoporosis, Growth delay, Doub... ORPHA:2326
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia, Downslanted palpebral fissures, Abnormal heart morphology, Short stature DECIPHER:42
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Short philtrum, Intrauterine growth retardation, Dislocated ... OMIM:610758
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Robinow Syndrome, Autosomal Recessive 1
Missing ribs, Long philtrum, Micrognathia, Macroglossia, Scoliosis, Vertebral fusion, Retrognathi... OMIM:268310
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Short neck, Intrauterine growth retardation, Sacral dimple, Long eyelashes, Atrial s... ORPHA:505237
Suleiman-El-Hattab Syndrome
High palate, Patent foramen ovale, Long philtrum, Drooling, Atrial septal defect, Thick eyebrow, ... OMIM:618950
Hypomandibular Faciocranial Dysostosis
Aglossia, Coronal craniosynostosis, Patent ductus arteriosus, Atrial septal defect, Micrognathia,... OMIM:241310
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Joubert Syndrome 18
Intrauterine growth retardation, Joint laxity, Ventricular septal defect, Kyphoscoliosis, Camptod... OMIM:614815
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Short stature, V... OMIM:608406
Chromosome 6Q24-Q25 Deletion Syndrome
Upslanted palpebral fissure, Hooded eyelid, Long philtrum, Dysplastic tricuspid valve, High, narr... OMIM:612863
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Micromeli... ORPHA:2772
Carpenter Syndrome 1
Genu varum, Micrognathia, Scoliosis, Ventricular septal defect, Lateral displacement of patellae,... OMIM:201000
Even-Plus Syndrome
Coronal cleft vertebrae, High palate, Vertebral clefting, Short neck, Patent foramen ovale, Sever... OMIM:616854
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Mitral valve calcificati... OMIM:203500
Thomas Syndrome
Downslanted palpebral fissures, Oligohydramnios, Cleft upper lip, Cleft palate ORPHA:3316
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Long eyelashes, Atrial septal defect, Highly arch... ORPHA:329224
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Long philtrum, Coronal craniosynostosis, Aortic root aneurysm, Atria... OMIM:145420
Formiminoglutamic Aciduria
Abnormal enzyme/coenzyme activity, Increased blood folate concentration, Abnormality of folate me... ORPHA:51208
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Long philtrum, Thick eyebrow, Microdontia, Micrognathia, Ptosis, Nasolacrimal duct... OMIM:610759
Codas Syndrome
Coronal cleft vertebrae, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Short ... ORPHA:1458
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Patent ductus arteriosus, Atrial septal defect, Lacrimal duct stenosis, Intesti... ORPHA:457193
Phaver Syndrome
Pterygium, Intrauterine growth retardation, Joint stiffness, Abnormal form of the vertebral bodie... ORPHA:2876
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... ORPHA:79302
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Lessel-Kreienkamp Syndrome
Upslanted palpebral fissure, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect... OMIM:619149
Pierpont Syndrome
Unilateral narrow palpebral fissure, Blepharophimosis, Everted lower lip vermilion, Widely spaced... OMIM:602342
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Long philtrum, Pulmonic stenosis, Highly arched eyebrow, Ventricular septal ... ORPHA:251076
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... OMIM:184460
Short Stature And Facioauriculothoracic Malformations
High palate, Short neck, Cleft upper lip, Ptosis, Ventricular septal defect, Abnormality of the o... OMIM:609654
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, Short palpebral fissure, High palate, Patent foramen ovale, Patent ductus arteriosu... OMIM:613457
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Coronal cleft vertebrae, Calcaneal epiphy... ORPHA:79345
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Microphthalmia, Polyhydramnios, Synophrys, Cleft palate ORPHA:261272
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Short neck, Atrial septal defect, Hypertrophic cardiomyo... OMIM:613706
White Forelock With Malformations
Abnormal palate morphology, Atrial septal defect, Deep philtrum, Epicanthus, Spina bifida occulta... ORPHA:2475
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, High palate, Flexion contracture, Blepharophimosis, Telecanthus, Ptosis,... OMIM:255995
Microphthalmia, Syndromic 13
Microphthalmia, Diastema, Ptosis OMIM:300915
Pierpont Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Widely spaced teeth, Microphthalmia, Broad... ORPHA:487825
Dysosteosclerosis
Recurrent fractures, Hypoplastic vertebral bodies, Increased bone mineral density, Craniofacial h... ORPHA:1782
Oculocerebrocutaneous Syndrome
Orbital cyst, Anophthalmia, Eyelid coloboma, Microphthalmia, Cleft palate OMIM:164180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Short neck, Rhizomelia, Decreased skull ossification, Platyspondyly, Micrognathia... ORPHA:93267
Omodysplasia 1
Long philtrum, Fibular hypoplasia, Micrognathia, Limited knee flexion/extension, Ventricular sept... OMIM:258315
Thanatophoric Dysplasia
Joint stiffness, Intrauterine growth retardation, Patent ductus arteriosus, Kyphosis, Atrial sept... ORPHA:2655
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dental malocclusion, Patent ductus arteriosus, Velopharyngeal insufficiency, Atrial septal defect... ORPHA:363444
19P13.3 Microduplication Syndrome
Narrow mouth, Upslanted palpebral fissure, Short philtrum, Intrauterine growth retardation, Telec... ORPHA:447980
Tyshchenko Syndrome
High palate, Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Ptosis, Hi... OMIM:615102
King-Denborough Syndrome
High palate, Thoracic kyphosis, Short neck, Deep philtrum, Ptosis, Joint hypermobility, Downslant... OMIM:619542
3Mc Syndrome 1
Ptosis, Highly arched eyebrow, Ventricular septal defect, Epicanthus inversus, Cleft palate, Clef... OMIM:257920
Filippi Syndrome
Short philtrum, Intrauterine growth retardation, Hypodontia, Microdontia, Abnormality of dental m... OMIM:272440
Chromosome 9P Deletion Syndrome
Narrow mouth, Upslanted palpebral fissure, High palate, Short neck, Long philtrum, Patent ductus ... OMIM:158170
Primary Sclerosing Cholangitis
Low levels of vitamin A, Elevated alkaline phosphatase of hepatic origin, Adenocarcinoma of the l... ORPHA:171
15Q14 Microdeletion Syndrome
Short philtrum, Kyphosis, Long philtrum, Atrial septal defect, Short stature, Scoliosis, Ventricu... ORPHA:261190
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Distal Monosomy 15Q
Upslanted palpebral fissure, Generalized joint laxity, Micrognathia, Hypoplastic left heart, Mitr... ORPHA:1596
17Q23.1Q23.2 Microdeletion Syndrome
Narrow mouth, Blepharitis, Sacral dimple, Intrauterine growth retardation, Patent ductus arterios... ORPHA:261279
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Ptosis, Downslanted palpebral fissures, Prominent metopic ridge, Thin vermi... OMIM:618109
Holt-Oram Syndrome
Absent thumb, Joint stiffness, Kyphosis, Patent ductus arteriosus, Phocomelia, Atrial septal defe... ORPHA:392
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Sto... OMIM:612852
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, High palate, Patent foramen ovale... OMIM:619343
Myopathy, Centronuclear, 5
Narrow mouth, Dilated cardiomyopathy, High palate, Micrognathia, Hip contracture, Retrognathia OMIM:615959
Basal Cell Nevus Syndrome
Orbital cyst, Cardiac fibroma, Odontogenic keratocysts of the jaw, Irregular ossification of hand... OMIM:109400
Osteoporosis, Juvenile
Low serum calcitriol, Osteoporosis OMIM:259750
Van Esch-O'Driscoll Syndrome
Upslanted palpebral fissure, Bifid uvula, Intrauterine growth retardation, Atrial septal defect, ... OMIM:301030
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Intrauterine growth retardation, Multiple prenatal fractures, Flexion ... OMIM:616897
Rhizomelic Syndrome, Urbach Type
High palate, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Rhizomelia, Abnormality... ORPHA:3098
Autosomal Recessive Robinow Syndrome
Upslanted palpebral fissure, Long philtrum, Open bite, Tented upper lip vermilion, Exaggerated cu... ORPHA:1507
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Noonan Syndrome 5
Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Sparse eyebrow, Pulmonic stenosis,... OMIM:611553
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Short stature, Ventricular septal defect OMIM:614947
Multiple Epiphyseal Dysplasia, Lowry Type
Upslanted palpebral fissure, Fibular hypoplasia, Rhizomelia, Dislocated radial head, Micrognathia... ORPHA:166016
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Upslanted palpebral fissure, Bifid uvula, Kyphosis, Long philtrum, Thin upper lip vermilion, Inte... ORPHA:404440
Mesomelia-Synostoses Syndrome
Long philtrum, Micrognathia, Ptosis, Micromelia, High, narrow palate, Telecanthus, Genu valgum, S... ORPHA:2496
Larsen Syndrome
Cervical kyphosis, Shallow orbits, Tracheomalacia, Scoliosis, Ventricular septal defect, Cleft pa... OMIM:150250
Noonan Syndrome 13
Long philtrum, Widely spaced teeth, Microdontia, Micrognathia, Ptosis, Highly arched eyebrow, Sco... OMIM:619087
Abetalipoproteinemia
Low levels of vitamin A, Cardiomegaly, Fat malabsorption, Osteopenia, Ptosis, Keratoconjunctiviti... ORPHA:14
Sifrim-Hitz-Weiss Syndrome
Upslanted palpebral fissure, Tetralogy of Fallot, Wormian bones, Short palpebral fissure, Short f... OMIM:617159
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, High palate, Short philtrum, Drooling, Atrial septal defect, Joint laxit... OMIM:300986
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Anal atresia, Narrow mouth ORPHA:3469
Loeys-Dietz Syndrome 5
Bifid uvula, Tented upper lip vermilion, Ptosis, Ventricular septal defect, Retrognathia, Cleft p... OMIM:615582
Craniofaciofrontodigital Syndrome
Long philtrum, Osteoporosis, Macroglossia, Scoliosis, Ventricular septal defect, Epicanthus, Card... ORPHA:363705
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, Long philtrum, 11 pairs of ribs, Thick eyebrow, B... OMIM:245600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Hypoplastic sacrum, Atrial septal defect, Laryngotracheomalacia, Hypoplastic left he... OMIM:617660
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Short palpebral fissure, Craniosynostosis, Intrauterine growth retardation, Rhizome... OMIM:614114
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Osteoporosis, Disproportionate short-trunk short st... ORPHA:85194
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Popliteal pterygium, Antecubital pterygium, Microphthalmia, Bilateral cl... OMIM:619339
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Flexion contracture, Trismus, Growth delay, Micrognathia, Ptosis, Downslan... OMIM:254940
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Blepharophimosis, Scoliosis, Narrow palpebral fissure OMIM:615879
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Upslanted palpebral fissure, Atrial septal defect, Micrognathia, Hypopla... ORPHA:79113
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Ptosis, Hypoplasia of the maxilla, Short distal phala... OMIM:614261
Oculofaciocardiodental Syndrome
Long philtrum, Short thumb, Ptosis, Highly arched eyebrow, Flexion contracture of the 2nd toe, Sc... ORPHA:2712
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Lower eyelid coloboma, Microphthalmia, Telecan... OMIM:167730
Noonan Syndrome 4
Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Sparse eyebrow, Pulmonic stenosis,... OMIM:610733
Noonan Syndrome 2
High palate, Downslanted palpebral fissures, Short neck, Patent ductus arteriosus, Atrial septal ... OMIM:605275
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Sparse eyebrow, Widely spaced teeth, Micrognathia, Downslanted palpebral fi... ORPHA:459061
Char Syndrome
Thick vermilion border, Short philtrum, Patent ductus arteriosus, Everted lower lip vermilion, Pt... ORPHA:46627
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cleft upper lip, Intrauterine growth retardation, Long eyelashes, Atrial sep... ORPHA:2008
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Fanconi Anemia, Complementation Group S
Upslanted palpebral fissure, Long eyelashes, Macrodontia, Thick upper lip vermilion, Microphthalm... OMIM:617883
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Upslanted palpebral fissure, High palate, Short neck, Patent foramen ovale, Arthrogryposis-like h... ORPHA:369891
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Microphthalmia, Syndromic 2
Bifid uvula, Long philtrum, Thick eyebrow, Radiculomegaly, Dextrocardia, Double outlet right vent... OMIM:300166
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Scoliosis, Ventricular septal defect ORPHA:357225
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Short thumb, Abnormal aortic valve morphology, Co... ORPHA:1120
Kagami-Ogata Syndrome
Short palpebral fissure, Flexion contracture, Long philtrum, Patent ductus arteriosus, Atrial sep... OMIM:608149
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Upslanted palpebral fissure, Narrow mouth, Craniosynostosis, Bi... ORPHA:1790
8P23.1 Microdeletion Syndrome
Upslanted palpebral fissure, Tetralogy of Fallot, High palate, Short neck, Intrauterine growth re... ORPHA:251071
Radio-Tartaglia Syndrome
Upslanted palpebral fissure, Long philtrum, Thick eyebrow, Micrognathia, Highly arched eyebrow, H... OMIM:619312
Noonan Syndrome 8
Short neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic... OMIM:615355
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Microgn... OMIM:256050
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Short philtrum, Drooling, Growth delay, Joint hypermobility, Do... ORPHA:3306
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Short palpebral fissure, Tetralogy of Fallot, High palate, Short neck, Patent foram... OMIM:612582
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Unilateral ptosis, Intrauterine growth retardation, Abnormal tricuspid v... ORPHA:485405
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:617044
Wolf-Hirschhorn Syndrome
Short thumb, Micrognathia, Ptosis, Highly arched eyebrow, Scoliosis, Vertebral fusion, Ventricula... OMIM:194190
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Ptosis, Microphthalmia, Lymphedema, Epicanthus, Downtu... ORPHA:1598
Bohring-Opitz Syndrome
Upslanted palpebral fissure, Micrognathia, Ventricular septal defect, Retrognathia, Short toe, Cl... OMIM:605039
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Everted lower lip vermilion, Ventricular septal defect, Retrognathia, Diastema, Ab... OMIM:212066
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Intrauterine growth retardation, L... OMIM:617022
Chromosome 18Q Deletion Syndrome
Bifid uvula, Scoliosis, Ventricular septal defect, Mandibular prognathia, Dysplastic pulmonary va... OMIM:601808
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia o... ORPHA:1908
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Bilateral microphthalmos OMIM:608763
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Ptosis, Knee flexion contracture, Vascular ri... OMIM:603387
Lambert Syndrome
Intrauterine growth retardation, Malar flattening, Ventricular septal defect, Branchial anomaly, ... ORPHA:1296
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Long eyelashes, Ptosis, Highly arched eyebrow, Do... OMIM:615009
Ogden Syndrome
High palate, Long eyelashes, Atrial septal defect, Abnormality of the dentition, Sparse eyebrow, ... OMIM:300855
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Thin upper lip vermili... OMIM:619135
Hajdu-Cheney Syndrome
Long philtrum, Thick eyebrow, Osteoporosis, Micrognathia, Epicanthus, Telecanthus, Genu valgum, H... OMIM:102500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin A, High palate, Osteopenia, Intrauterine growth retardation, Joint laxity, ... OMIM:613658
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Upslanted palpebral fissure, Thick eyebrow, Micrognathia, Ptosis, Highly arched eyebrow, Scoliosi... OMIM:213980
Bone Dysplasia, Lethal Holmgren Type
Short neck, Patent ductus arteriosus, Rhizomelia, Atrial septal defect, Short ribs, Hypertrophic ... ORPHA:1842
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Tented upper lip vermilion, Microphthalmia, Downslanted palpebral fis... OMIM:614105
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Micromelia, Abnormal heart morphology, Microglossia, Median cleft lip, ... OMIM:241800
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Intrauterine growth retardation, Total anomalous pulmonary venous return,... OMIM:270100
Sandestig-Stefanova Syndrome
High palate, Short neck, Intrauterine growth retardation, Prominent metopic ridge, Muscular ventr... OMIM:618804
Lambotte Syndrome
Narrow mouth, Intrauterine growth retardation, Ventricular septal defect, Retrognathia, Telecanthus OMIM:245552
Frontofacionasal Dysplasia
Absent inner eyelashes, Non-midline cleft lip, Blepharophimosis, Aplasia/Hypoplasia of the eyebro... ORPHA:1791
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Scoliosis, Vertebral fusion, Ventricular septal defect, Mandib... ORPHA:373
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short stature, Short 4th metacarpal, Short metatarsal OMIM:113301
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Accelerated skeletal maturation, High palate, Intrauterine growth retardation, Rhizomelia, Microg... OMIM:617164
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Tetralogy of Fallot, Hypoplasia of the ulna, Short distal phalanx of the... ORPHA:959
Alagille Syndrome
Short philtrum, Hypoplasia of the ulna, Intrauterine growth retardation, Abnormal form of the ver... ORPHA:52
Mandibulofacial Dysostosis, Guion-Almeida Type
Upslanted palpebral fissure, Atrial septal defect, Deep philtrum, Micrognathia, Esophageal atresi... OMIM:610536
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Death in childhood, Microphthalmia, Blepharophimosis, Thin vermilion border OMIM:214150
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Patent ductus arteriosus, Enamel hypoplasia, Atrial septal defec... OMIM:614576
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Cleft upper lip, Cleft palate OMIM:613885
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Esophageal atresia, Micrognathia, Downslanted palpebral ... OMIM:614526
Viss Syndrome
Bifid uvula, Carotid artery tortuosity, Generalized joint laxity, Double outlet right ventricle, ... OMIM:619472
Lateral Meningocele Syndrome
High palate, Wormian bones, Kyphosis, Abnormal form of the vertebral bodies, Short neck, Craniofa... ORPHA:2789
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Thyroid lymphangiectasia, Scoliosis, Ventricular se... OMIM:235510
Trisomy 13
Kyphosis, Intrauterine growth retardation, Patent ductus arteriosus, Long philtrum, Atrial septal... ORPHA:3378
Robinow Syndrome, Autosomal Dominant 3
Upslanted palpebral fissure, Long philtrum, Hypoplastic right heart, Micrognathia, Scoliosis, Ven... OMIM:616894
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Thoracic scoliosis, High palate, Short neck, Thin eyebrow, Osteoporosis, Os... OMIM:618000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Methylmalonic acidemia, Growth delay, Coarctation of aorta, Micrognathia, D... OMIM:614857
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Short philtrum, Flexion contracture, Atrial septal defect, Joint laxity, Open mouth,... OMIM:309520
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Intrauterine growth retardation, Atrial septal defect, Intestinal malrotation, Cario... OMIM:617602
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, High palate, Bifid uvula, Osteopenia, Camptodactyly of finger, Prominen... OMIM:612350
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Scoliosis, Long philtrum, Reduced bone mineral density ORPHA:466926
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Reduced dihydropyrimidine dehydrogenase level OMIM:274270
Primary Ciliary Dyskinesia
Intestinal malrotation, Chronic sinusitis, Situs inversus totalis, Double outlet right ventricle,... ORPHA:244
Arthrogryposis, Distal, Type 3
High palate, Distal arthrogryposis, Short neck, Decreased hip abduction, Camptodactyly of finger,... OMIM:114300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Acromesomelia, Patent foramen ovale, Patent ductus arteriosus, Joint laxity, Open mouth, Short 5t... ORPHA:500159
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Increased bone mineral density, Delayed eruption of teeth, Severe short stature, Hyp... ORPHA:2780
2Q31.1 Microdeletion Syndrome
Long philtrum, Everted lower lip vermilion, Micrognathia, Ptosis, Scoliosis, Ventricular septal d... ORPHA:251014
Nanophthalmos
Microphthalmia ORPHA:35612
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Downslanted palpebral fissures, Ventricular septal defect, Smooth philtrum, Epicanthus OMIM:602501
Microphthalmia, Syndromic 12
Retrognathia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium OMIM:615524
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Upslanted palpebral fissure, High palate, Thick vermilion border, Sh... ORPHA:363528
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Upslanted palpebral fissure, Cleft upper lip, Cleft palate OMIM:612530
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Osteomalacia, Spinal c... ORPHA:289176
Grange Syndrome
Short palm, Patent ductus arteriosus, Increased susceptibility to fractures, Ventricular septal d... ORPHA:79094
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Narrow mouth, Intrauterine growth retardation, Contracture of the proximal interphalangeal joint ... OMIM:300998
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Hypoplastic left heart, Ventricular septal defect, Cleft pal... ORPHA:2476
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate, Ptosis ORPHA:1473
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Elevated circulating alkaline phosphatase concentration, Decreased circulat... OMIM:619073
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Thick eyebrow, Micrognathia, High, narrow palate, Scoliosis, Ve... ORPHA:193
Restrictive Dermopathy 1
Narrow mouth, Congenital pseudoarthrosis of the clavicle, Decreased calvarial ossification, Short... OMIM:275210
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anal stenosis, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Ante... OMIM:248450
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Intrauterine growth retardation, Kyphosis, Short palm, Atrial septa... ORPHA:254346
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Atrial septal defect, Downslanted palpebral fissures, Scolio... OMIM:611961
Recombinant 8 Syndrome
Tetralogy of Fallot, Cleft upper lip, Gingival overgrowth, Patent ductus arteriosus, Abnormality ... ORPHA:96167
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Patent foramen ovale, Long philtrum, Downslanted palpebral fissures, D... OMIM:615539
X-Linked Intellectual Disability, Nascimento Type
Upslanted palpebral fissure, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus,... ORPHA:163956
Ververi-Brady Syndrome
Upslanted palpebral fissure, High palate, Intrauterine growth retardation, Everted lower lip verm... OMIM:617982
Maternal Uniparental Disomy Of Chromosome 4
Low levels of vitamin A, Fat malabsorption, Short stature, Postnatal growth retardation, Low leve... ORPHA:96180
Transaldolase Deficiency
Short philtrum, Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Patent for... OMIM:606003
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Tooth agenesis, Cleft palate ORPHA:1135
Mosaic Trisomy 9
Upslanted palpebral fissure, High palate, Abnormal heart valve morphology, Intrauterine growth re... ORPHA:99776
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Shallow orbits, Ptosis, Macroglossia, Scoliosis, Ventricular septal defect, Atrioven... ORPHA:453499
Diabetic Embryopathy
Abnormal sacrum morphology, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transpo... ORPHA:1926
Robinow Syndrome, Autosomal Dominant 2
Upslanted palpebral fissure, Sacral dimple, Long philtrum, Thin upper lip vermilion, Abnormality ... OMIM:616331
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Short femoral neck, Severe short stature, Irregular acetabul... ORPHA:93316
Distal Tetrasomy 15Q
High palate, Craniosynostosis, Flexion contracture, Intrauterine growth retardation, Patent ductu... ORPHA:314588
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of frontal sinus, Atrial septal defect, Thoracolumbar scoliosis, Short thumb, Periphe... ORPHA:436003
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Chromosome 10Q26 Deletion Syndrome
Upslanted palpebral fissure, Craniosynostosis, Short neck, Long philtrum, Patent ductus arteriosu... OMIM:609625
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Upslanted palpebral fissure, Patent ductus arteriosus, Thin upper lip vermilion... OMIM:601927
Kapur-Toriello Syndrome
Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Cleft upper lip, Atrial se... OMIM:244300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Micrognathia, Ventricular septal defect, Arthrogryposis multiplex congenita... OMIM:208085
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short palpebral fissure, Short philtrum, Bifid uvula, Short neck, Intrauterine growth retardation... OMIM:618622
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Widely spaced teeth, Microdontia, Microphtha... OMIM:619694
Acrofacial Dysostosis 1, Nager Type
Trismus, Micrognathia, Sparse lower eyelashes, Scoliosis, Ventricular septal defect, Retrognathia... OMIM:154400
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Frontonasal Dysplasia 1
Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palate, Ptosis, Hypoplasia of the ... OMIM:136760
C Syndrome
Accessory oral frenulum, Upslanted palpebral fissure, High palate, Patent ductus arteriosus, Thic... OMIM:211750
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Atrial septal defect, Open mouth, Microdontia, Short distal phalanx of toe, Microgn... OMIM:619356
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Dysphagia, Fused cervical vertebrae, Stiff neck, Ante... ORPHA:268882
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Upslanted palpebral fissure, Tetralogy of Fallot, Vertebral clefting, Long philtrum, Short femora... OMIM:614701
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Short neck, Enamel hypoplasia,... OMIM:272460
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Microretrognathia, D... ORPHA:89844
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Hypertrophic ... OMIM:612938
Distal Trisomy 5Q
Absent thumb, Narrow mouth, Craniosynostosis, Hypoplasia of the ulna, Long philtrum, Carious teet... ORPHA:96097
Trisomy 17P
Micrognathia, Ptosis, Macroglossia, Hypoplastic left heart, Scoliosis, Cleft palate, Narrow mouth... ORPHA:261290
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Atrial septal defect, Widely spaced teeth, Microdontia, Ptosis, ... ORPHA:2728
10Q22.3Q23.3 Microduplication Syndrome
Upslanted palpebral fissure, Tetralogy of Fallot, Abnormality of the philtrum, Microretrognathia,... ORPHA:276422
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Long philtrum, 11 pairs of ribs, Micrognathia, Scoliosis, Ventric... OMIM:117650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Long philtrum, Thick lower lip vermilion, Deep philtrum, Microphthal... OMIM:152950
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Telecanthus, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Atrial septal defect, Almond-shaped palpebral fissure, Thin uppe... ORPHA:521308
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Noonan Syndrome 10
High palate, Short neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopa... OMIM:616564
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Epicanthus, Micrognathia, Ptosis, Broad eyebrow, Abnormal heart ... ORPHA:494344
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Short neck, Patent ductus arteriosus, Downslanted palpebral fissures, Short stature,... ORPHA:52055
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Drooling, Atrial septal defect, Joint laxity, Open mouth, Tented upper lip vermilion, Highly arch... ORPHA:500533
Sotos Syndrome
Accelerated skeletal maturation, High palate, Narrow palate, Patent ductus arteriosus, Atrial sep... OMIM:117550
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Long philtrum, Atrial septal defect... ORPHA:75389
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Missing ribs, Patent ductus arteriosus, Esophageal atresia, Short stature, ... OMIM:206900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Thin eyebrow, Everted lower lip ... OMIM:608670
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Kyphosis, Subvalvular aortic stenosis, Microdontia, Micro... ORPHA:3191
Opitz Gbbb Syndrome
Tracheomalacia, Long philtrum, Micrognathia, Ptosis, Ventricular septal defect, Dysphagia, Teleca... ORPHA:2745
1Q44 Microdeletion Syndrome
Upslanted palpebral fissure, High palate, Intestinal malrotation, Growth delay, Micrognathia, Exa... ORPHA:238769
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Microdontia, Generalized joint laxity, Micrognathia, Dacryocystitis, Ventricular s... ORPHA:251028
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimitar anomaly, Dextrocard... OMIM:608978
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Marden-Walker Syndrome
Narrow mouth, High palate, Short neck, Intrauterine growth retardation, Kyphosis, Joint contractu... OMIM:248700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Coronal cleft vertebrae, Shoulder dislocation, Long philtrum, Widely spaced teeth, Narrow vertebr... OMIM:143095
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Apla... ORPHA:1794
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Thick eyebrow, Deep philtru... ORPHA:404443
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Short palpebral fissure, High palate, Long philtrum, Patent ductus arteriosus, Atrial septal defe... ORPHA:397709
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Craniofacial osteosclerosis, Fibular hypoplasia, Micrognathia, Scoli... OMIM:300373
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Dental malocclusion, Trismus, Hyperextensible hand joints, Deep philtrum, Downslante... OMIM:227330
Hajdu-Cheney Syndrome
Long philtrum, Open bite, Thick eyebrow, Osteoporosis, Decreased skull ossification, Micrognathia... ORPHA:955
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Microphthalmia With Limb Anomalies
Short palpebral fissure, High palate, Anophthalmia, Cleft upper lip, Deep philtrum, Microphthalmi... OMIM:206920
Temtamy Syndrome
Microphthalmia, Telecanthus, Abnormal palate morphology, Thick lower lip vermilion ORPHA:1777
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Conotruncal defect, Aplasia/hypoplasia involving bones of the l... ORPHA:40366
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Spinal canal stenosis, Ventricular septal defect, Anterior... OMIM:618624
Tetraamelia Syndrome 2
Bilateral cleft lip, Micrognathia, Microretrognathia, Glossoptosis, Ventricular septal defect, Hy... OMIM:618021
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency