Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dachsous cadherin related 1
Synonyms:
C130033F22Rik,  3110041P15Rik

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 Dchs1 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 Dchs1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dchs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Tarp Syndrome
Micrognathia, Glossoptosis, High palate, Atrial septal defect, Neonatal death, Microtia, Low-set ... OMIM:311900
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Tarp Syndrome
Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ear... ORPHA:2886
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... OMIM:184260
Mass Syndrome
Mitral valve prolapse OMIM:604308
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Scarf Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal... ORPHA:3134
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Short neck, Ectopic kidney, High, narrow palate, Micromelia, Microgn... OMIM:122470
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Posteriorly rotated ears, Short stature, Short neck, P... OMIM:257300
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Joint stiffness, Micrognathia, Renal hypoplasia/aplasia... ORPHA:1166
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:228410
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Anorectal anomaly, Abnormal form of the vertebral bodies, Renal cyst, V... ORPHA:1834
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Short stature, Renal agenesis, Stage 5 chr... OMIM:615993
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,... OMIM:312830
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... ORPHA:2970
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, Stage 5 chronic kidney disease... ORPHA:2752
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndact... OMIM:236500
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short st... ORPHA:1988
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... ORPHA:3404
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Op... OMIM:615583
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept... OMIM:614815
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... OMIM:258850
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Donnai-Barrow Syndrome
Ventricular septal defect, Proteinuria, Posteriorly rotated ears, Intestinal malrotation, Non-aci... OMIM:222448
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Epiphyseal stippling, Neonatal death, Renal cyst OMIM:614870
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... OMIM:269150
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Posteriorly rotated ears, Proximal placement of thumb, Short stature, ... OMIM:620113
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Pectus ... ORPHA:2911
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... OMIM:256050
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Central Core Disease
Mitral valve prolapse ORPHA:597
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... OMIM:613390
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... OMIM:617271
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Coffin-Siris Syndrome 1
Ectopic kidney, Prominent interphalangeal joints, High palate, Clinodactyly of the 5th finger, Pr... OMIM:135900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Abnormal lu... ORPHA:2631
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow great... OMIM:312870
Distal Triplication 15Q
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Short neck, Cardiomegaly, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ... ORPHA:2635
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99413
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:881
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... ORPHA:99226
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Short stature, Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, H... OMIM:617661
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Momo Syndrome
Underfolded helix, Short stature, Short neck, Femoral bowing, Short sternum, High palate, Abnorma... ORPHA:2563
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Micromelia, Micrognat... OMIM:617866
Rhyns Syndrome
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... ORPHA:140976
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic ki... ORPHA:887
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... OMIM:151210
Trisomy 13
High, narrow palate, Abnormal lung lobation, Narrow chest, Atrial septal defect, Intrauterine gro... ORPHA:3378
Turnpenny-Fry Syndrome
Prominent interphalangeal joints, Pectus carinatum, Long thorax, High palate, Gastroesophageal re... OMIM:618371
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft palate, Polydacty... OMIM:613885
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Czeizel-Losonci Syndrome
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... ORPHA:2437
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Unilateral renal agenes... OMIM:618845
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Short... ORPHA:1393
Thanatophoric Dysplasia
Atrial septal defect, Abnormality of the kidney, Hearing impairment, Joint stiffness, Micromelia,... ORPHA:2655
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... OMIM:276950
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal widening,... OMIM:263210
3C Syndrome
Hypoplasia of penis, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Abnormal tricu... ORPHA:7
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Holopr... OMIM:146510
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Momo Syndrome
High palate, Short sternum, Underfolded helix, Short neck OMIM:157980
Renal Tubular Dysgenesis
Renotubular dysgenesis, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmo... ORPHA:3033
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys... ORPHA:1318
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Micromelia, Renal cyst, High palate, Narrow chest, Thoracic dysplasia, Syndactyly, Hypospadias, S... OMIM:614091
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology ORPHA:1277
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation,... ORPHA:99776
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... ORPHA:2461
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... OMIM:619980
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Hypospadias, Abnormal pinna morphology, Postaxial polydac... OMIM:614175
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Pectus excavatum, Hearing abnormality, Protruding ear, Radioulnar s... ORPHA:3270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Conductive hearing im... ORPHA:261197
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... OMIM:248700
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive... OMIM:102500
Trisomy 17P
Hypoplasia of penis, Short neck, Micrognathia, Flexion contracture, High palate, Clinodactyly of ... ORPHA:261290
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral valve prolapse ORPHA:2848
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Short stature, Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral seg... ORPHA:2578
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the... OMIM:200980
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,... ORPHA:3301
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... OMIM:611560
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Short stature, Recurrent fractures, Short neck, Micrognathia, ... ORPHA:1486
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Small abnormally formed scapulae, Wide-... OMIM:187600
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Toe syndactyly, Short stature, Micromelia, Micrognathi... OMIM:241800
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Severe short stature, Short thumb, Hypoplasia of the radius, Abnorma... ORPHA:2319
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Protruding ear, Abnormal sho... ORPHA:2115
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... OMIM:113650
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Cleft palate, Transposition of ... OMIM:231060
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Von Willebrand Disease
Abnormal mitral valve morphology ORPHA:903
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Anis... ORPHA:1865
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Joint hyperflexibility,... ORPHA:3375
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Joint st... ORPHA:3027
Say Syndrome
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Micrognathia, Proximal renal tu... OMIM:181180
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Short neck, ... OMIM:200600
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Atrial septal defect, Pulmonary artery atresia, ... OMIM:618316
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Kyphosis, Postaxial hand polydactyly, Hy... ORPHA:2075
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... ORPHA:261318
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Isolated Polycystic Liver Disease
Back pain, Gastroesophageal reflux, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Mosaic Trisomy 1
Thoracic scoliosis, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micropenis, Absent... ORPHA:1692
Radio-Renal Syndrome
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Short neck, Micro... ORPHA:3015
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Three M Syndrome 1
Scapular winging, Hypospadias, Short stature, Short neck, Hyperlordosis, Increased vertebral heig... OMIM:273750
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... ORPHA:2311
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Postnata... OMIM:179613
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3032
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Pe... ORPHA:958
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Osteoporosi... OMIM:615398
Distal Deletion 10Q
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... ORPHA:96148
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal ref... OMIM:300373
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Death in chi... OMIM:613320
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Pectus carina... ORPHA:93315
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... OMIM:263520
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro... OMIM:617468
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Fryns Syndrome
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Atrial septal defect, ... OMIM:229850
Congenital Disorder Of Glycosylation, Type Il
Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal cardiac septum morphology, ... OMIM:608776
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A... ORPHA:1507
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect... ORPHA:2538
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, Atrial septal de... OMIM:612863
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re... OMIM:134780
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... OMIM:611209
Spondylocostal Dysostosis 4, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifida occulta, Vertebral fusion,... OMIM:613686
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia OMIM:614859
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Abnorm... OMIM:239800
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue mor... ORPHA:531151
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... OMIM:617063
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... ORPHA:73230
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Abnormal renal corticomedullary differentiatio... OMIM:616733
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Mosaic Trisomy 16
Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Abnormality of the cervic... ORPHA:1708
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Meier-Gorlin Syndrome 1
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Pect... OMIM:224690
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Postaxial polydactyly, Aplastic clavicle, Short neck, Hamartoma of tongue,... OMIM:616546
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Short stature, Proximal placement of thumb, Hearing impairment, Abnorm... ORPHA:94065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... OMIM:616817
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ventricular septal defect, Ectopic kidney, Neonatal death, C... OMIM:613730
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Focal Dermal Hypoplasia
Gastroesophageal reflux, Finger syndactyly, Multicystic kidney dysplasia, Spina bifida, Split han... ORPHA:2092
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... OMIM:312150
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... ORPHA:371428
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly pla... ORPHA:798
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Gastroesophageal reflux, Atrial septal defect, Hypoplastic cervical vertebrae,... ORPHA:79345
Joubert Syndrome 16
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst, Nephrocalcinos... ORPHA:369837
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absenc... OMIM:120330
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Renal agenesis, Short neck, Absent thumb, Esophageal... OMIM:300514
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... ORPHA:261344
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal age... ORPHA:1335
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Thickened helice... ORPHA:261494
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... OMIM:253290
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Decreased skull o... ORPHA:955
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,... ORPHA:2308
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia... ORPHA:77298
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Short stature, Micrognathia, Hypoplastic ilia, Pat... ORPHA:85201
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Severe short stature, Posteriorly rotated ears... OMIM:224410
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebral s... ORPHA:2990
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t... ORPHA:107
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... OMIM:619879
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse OMIM:121050
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of... ORPHA:464306
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia OMIM:617562
Fryns Syndrome
Short neck, Micrognathia, High palate, Gastroesophageal reflux, Narrow chest, Vesicoureteral refl... ORPHA:2059
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Short sta... ORPHA:912
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card... OMIM:614922
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Hi... ORPHA:536467
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Short stature, Hearing abnormali... ORPHA:2031
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular septal defect, ... OMIM:211750
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... OMIM:135150
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostosis, Micr... ORPHA:166035
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th... ORPHA:464311
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, High pa... OMIM:266920
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Fetal pyelectasis, Knee... OMIM:616531
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Short neck, Micromelia, Postaxial... OMIM:200995
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... ORPHA:93346
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Atrial septal defect, Short stature, Sensorineural hearing impairment, Sub... OMIM:617660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Neph... OMIM:617056
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Short stature,... ORPHA:1001
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... ORPHA:230851
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Raine Syndrome
Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Neonatal death, Long hallux, D... OMIM:259775
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, ... ORPHA:284
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial... ORPHA:2044
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Hematemesi... OMIM:263200
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Short stature, Postaxial polydactyly, Micrognathia, Sensorin... OMIM:618460
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Postnatal growth retardation, Hypoplasia ... ORPHA:251061
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... ORPHA:97360
2P15P16.1 Microdeletion Syndrome
Protruding ear, Enlarged thorax, High palate, Multicystic kidney dysplasia, Facial palsy, Tapered... ORPHA:261349
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... OMIM:220500
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatocellular carcinoma, Re... OMIM:619902
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardi... OMIM:615415
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial synostosis,... OMIM:251230
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... OMIM:270400
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia OMIM:615397
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc... OMIM:614424
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Micrognathia, Protruding ... OMIM:618829
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect, Stiff neck,... OMIM:617022
Lethal Congenital Contracture Syndrome 1
Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Neonatal death, Arthrogryposis mu... OMIM:253310
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg... OMIM:263750
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... ORPHA:73246
15q26 overgrowth syndrome
Short neck, Micrognathia, Abnormal finger morphology, High palate, Vesicoureteral reflux, Long to... DECIPHER:81
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostos... OMIM:250410
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Unilateral renal agenesis, Postaxial h... OMIM:216360
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:110
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal lung lobatio... ORPHA:818
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Posteriorly rotated ears, Short stature, Micrognathia, 2-3 toe cutaneo... OMIM:618454
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Preaxial hand polyda... ORPHA:96179
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Bone cyst, Renal cyst, Abnormal heart morphology, Membr... ORPHA:400
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Otospondylomegaepiphyseal Dysplasia
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmona... OMIM:617194
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Severe Congenital Nemaline Myopathy
Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contr... ORPHA:171430
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Death in infancy, Pericarditis, Villous atrophy, Proteinuria, Pericardial effusion, K... OMIM:212065
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Renal agenesis, Spina bifida, Micrognathia, Renal ... ORPHA:3412
Chromosome 17Q12 Deletion Syndrome
Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney d... OMIM:614527
Microphthalmia, Syndromic 9
Micrognathia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonatal death, Atrial sep... OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Neo... OMIM:619003
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... OMIM:615524
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, ... OMIM:610199
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... OMIM:192350
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing imp... ORPHA:959
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodacty... OMIM:616975
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse ORPHA:758
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... ORPHA:373
Seckel Syndrome 1
Abnormal finger flexion crease, Micrognathia, High palate, Clinodactyly of the 5th finger, Disloc... OMIM:210600
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Shor... ORPHA:991
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Pectus carinatum, Renal fibrosi... OMIM:618161
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Short neck, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ea... OMIM:609625
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Bifid ... OMIM:615777
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Joint stiffness, Oral-pharyngeal dysphagia, ... OMIM:619184
Trisomy 10P
Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked ... ORPHA:171929
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnat... OMIM:302960
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Distal Deletion 12Q
Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Aplasia/Hypoplasia of the middle p... ORPHA:96149
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... ORPHA:994
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... OMIM:611561
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse ORPHA:93932
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... ORPHA:93271
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Meckel Syndrome, Type 6
Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Hydrocephalus, Anencepha... OMIM:612284
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers... OMIM:608149
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Neonatal short-limb short stature, Distal shortening of limbs, Short ... ORPHA:50945
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Multiple renal cysts, Renal cyst OMIM:614883
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Craniosynostosis, Postnatal... OMIM:614732
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... ORPHA:536471
Tonne-Kalscheuer Syndrome
Hypospadias, Short stature, Micrognathia, Velopharyngeal insufficiency, Abnormal heart morphology... OMIM:300978
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Conductive hearing impairment, Micr... OMIM:219000
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... ORPHA:93473
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse ORPHA:251066
Alg3-Cdg
Osteopenia, Abnormality of the gastrointestinal tract, Abnormal pinna morphology, Metaphyseal cho... ORPHA:79321
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Metatarsus adductus, Optic nerve dysplasia, Cleft palate, Abnormal heart morphology... OMIM:214110
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hy... OMIM:617895
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, Clinodactyly... ORPHA:1199
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, ... OMIM:231680
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... ORPHA:2257
Stuve-Wiedemann Syndrome 1
Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue,... OMIM:601559
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Fing... ORPHA:1596
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Renal cyst, High palate, Atrial septal defect, Death in infancy, Hypospadias, Wide ... OMIM:614866
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Clinodac... ORPHA:1606
Cranioectodermal Dysplasia 2
Short neck, Micrognathia, Renal cyst, High palate, Narrow chest, Atrial septal defect, Patent for... OMIM:613610
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Atr... ORPHA:567
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Short stature, Pectus excavatum, 3-4 finger cutaneous synd... OMIM:612530
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Osteomalacia, Hypocitraturia, Sensorineural hearing impairment,... ORPHA:18
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Ves... OMIM:617219
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Absent frontal sinuses, Hemivertebrae, Gastroesophageal reflux, Micropenis, Hypospadias, Tapered ... OMIM:301040
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Abnormal pinna morphology, Hyperlordosis, Glutaric aciduria, Wide anterior font... ORPHA:26791
Restrictive Dermopathy 1
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal ... OMIM:275210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... ORPHA:96334
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomal... OMIM:617478
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Knee flexion contracture, High palate, Long toe, Death in inf... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... OMIM:614096
Meier-Gorlin Syndrome 3
Micrognathia, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux, Narrow chest, Micropenis, ... OMIM:613803
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral... OMIM:107480
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retardation... OMIM:616603
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, M... ORPHA:1724
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Megalopa... OMIM:615636
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Postnatal growth retardation, Rickets, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology ORPHA:85438
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Hypoplasia of penis, Intesti... ORPHA:2323
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... OMIM:615560
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Low-set ears, Clinodact... OMIM:601163
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing enteropathy... OMIM:602579
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... ORPHA:2847
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Conductive hearing impairment, Ve... OMIM:157800
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
3Mc Syndrome 1
Atrial septal defect, Sacral dimple, Ventricular septal defect, Single interphalangeal crease of ... OMIM:257920
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... ORPHA:139466
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Multicystic kidney dysplasia, Intestinal... ORPHA:1052
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho... ORPHA:500095
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst, Death in infancy OMIM:614862
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Tetrasomy 9P
Glue ear, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Pate... ORPHA:3310
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:602782
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, ... ORPHA:79328
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Anteriorly placed anus, High palate, Narrow chest, Distally placed thumb, Encephalo... OMIM:619148
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... ORPHA:794
3Mc Syndrome 2
Hypospadias, Hearing impairment, Limited elbow movement, Craniosynostosis, Postnatal growth retar... OMIM:265050
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Hypospadias, Ventricular septal defect, Optic nerve hypopl... OMIM:206900
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... OMIM:142900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Micrognathia, Large fleshy ears, High palate, Gastroesophageal reflux, Atri... OMIM:614080
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:607361
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Vesicoureteral... OMIM:606232
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, High palate, Na... OMIM:213980
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, Aminoaciduria, High palate, Death in childhood, Hypospadias, W... OMIM:214100
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolap... ORPHA:904
Kabuki Syndrome 1
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Atrial septal defect, Prom... OMIM:147920
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Proportionate short stature, Renal... ORPHA:488618
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... ORPHA:235
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoaciduria, Gastroesophage... ORPHA:534
Congenital Myopathy 1B, Autosomal Recessive
Joint laxity, Recurrent respiratory infections, Facial palsy, High palate, Pulmonary hypoplasia, ... OMIM:255320
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda... ORPHA:1454
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... OMIM:615709
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Fraser Syndrome
Hypoplasia of penis, Abnormal lung lobation, Urethral atresia, Vertebral segmentation defect, Hig... ORPHA:2052
Peters Plus Syndrome
Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu... ORPHA:709
Tetrasomy 5P
Recurrent respiratory infections, Overlapping toe, Posteriorly rotated ears, Short hallux, Short ... ORPHA:3309
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Scapular winging,... OMIM:620369
Alagille Syndrome 1
Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicoureteral reflux,... OMIM:118450
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Multiple bladder diverticula,... OMIM:613177
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Syndactyly, Postaxial foot p... OMIM:249000
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... OMIM:208540
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Epidermal Nevus Syndrome
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia ORPHA:35125
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... ORPHA:1880
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Leopard Syndrome 1
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... OMIM:151100
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... OMIM:606170
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept... OMIM:300855
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... ORPHA:95699
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Posteriorly rotated ears, Rectal ... ORPHA:49
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Short... ORPHA:1297
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... ORPHA:233
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Wide anteri... OMIM:619135
Agnathia-Otocephaly Complex
Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... OMIM:202650
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... ORPHA:93929
Renal Hypoplasia, Bilateral
Proteinuria, Short stature, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta ... ORPHA:97362
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Reduced bone miner... ORPHA:1556
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Growth delay, 3-... ORPHA:445038
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, High pala... ORPHA:199
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Pectus excavatum, Respirator... OMIM:618975
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Micrognathia, Hemivertebrae, Anotia, Conductive hearing ... OMIM:164210
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d... OMIM:268300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Postnatal growth retardation, Cont... ORPHA:83617
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome